Παιδιατρική | Τόμος 71 • Τεύχος 3 • Μάιος - Ιούνιος 2008

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177 Gene therapy for the kidney using viral vectors T. Akbulut, F. Park

231 ¡ÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË ÛÙ· ·È‰È¿ M. B. ∞ÓıÚ·ÎfiÔ˘ÏÔ˜, K. N. ¶Ú›ÊÙ˘

186 Left ventricular mass index in hypertensive children and adolescents S. Stabouli, V. Kotsis 192 ªÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›· °. ¡ÈˆÙ¿Î˘, °. µÏ·¯¿ÎË, ∂. ∫fiÎÎÔÚË 201 ¢ÈÂÚ‡ÓËÛË ·È‰ÈÔ‡ Ì ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ ª. ∆˙Ô‡ÊË, ¶. ™È¯ÏÈÌ›ÚË, ∞. ™È·ÌÔÔ‡ÏÔ˘-ª·˘Ú›‰Ô˘

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210 Behavioural and emotional problems in children with idiopathic generalized epilepsy and well-controlled seizures A. Prassouli, A. Attilakos, E. Katsarou, J. Sarafidou, S. Mastroyianni, K. Voudris, A. Skardoutsou, I. Antoniadou

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Pediatri May-Jun 08

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Bimonthly Publication of the Greek Paediatric Society

Paediatriki

President A. Constantopoulos Editorial Board Editor-in-Chief C. Stefanidis Members S. Andronikou P. Augoustides-Savvopoulou A. Vazeou-Gerasimidi G. Varlamis ∂. Galanakis L. Thomaidou M. Kanariou ∂. Katsarou-Pectasides A. Kattamis S. Kitsiou-Tzeli ∞. Papadopoulou N. Papadopoulos A. Siamopoulou-Mavridou M. Tsolia Manuscript submission e-mail: hps@ath.forthnet.gr Instructions to authors: http://www.e-child.gr/paediatriki/ iae.pdf Manuscript Editing Greek Editing M. Natsoulidou

Volume 71 ñ Number 3 ñ May-June 2008

Contents REVIEW ARTICLES

PRACTICAL ISSUES

177 Gene therapy for the kidney using viral vectors T. Akbulut, F. Park

231 Nebulised adrenaline in children M.B. Anthracopoulos, K.N. Priftis

186 Left ventricular mass index in hypertensive children and adolescents S. Stabouli, V. Kotsis 192 Methaemoglobinaemia G. Niotakis, G. Vlahaki, H. Kokkori 201 Evaluating a first non febrile seizure in a child M. Tzoufi, P. Sichlimiri, A. Siamopoulou-Mavridou 210 Behavioural and emotional problems in children with idiopathic generalized epilepsy and well-controlled seizures A. Prassouli, A. Attilakos, E. Katsarou, J. Sarafidou, S. Mastroyianni, K. Voudris, A. Skardoutsou, I. Antoniadou

English Editing S. Nakou

ORIGINAL ARTICLES

Publisher

215 Prevention of cardiovascular disease from childhood A. Hitoglou, K. Makedou, M. Antonitsi, A. Kourtis, S. Varlamis, G. Varlamis

K. Griveas Publishing Coordinator SCIENTIFIC PUBLICATIONS Ltd 1∞ Pierias St. GR - 144 51, Metamorfossi Tel.: +30 210 87 78 810 Fax: +30 210 87 78 822 Owner Greek Paediatric Society© 92 Michalakopoulou St. GR - 115 28, Athens Tel.: +30 210 7771 140 +30 210 7771 663 Fax: +30 210 7758 354 e-mail: hps@ath.forthnet.gr Annual Subscription All foreign countries: US $ 50

219 Schoolchildren’s awareness and teachers’ views about active and passive smoking V. Aivazis, G. Zardava, D. Aivazi, E. Bourli, A. Vasiliadis, T. Thomaidis, E. Fountzila, E. Gialama, P. Argyropoulou-Pataka 224 Study of children with Bardet-Biedl syndrome in the Greek population S. Psoni, G. Leventopoulos, S. Kitsiou-Tzeli, E. Kanavakis, H. Fryssira

235 Turner syndrome: What the parents want to know S. ∫itsiou-∆zeli CASE REPORTS 238 Hypoplastic left heart syndrome in a neonate. Case report and literature review E. Korakaki, J. Germanakis, A. Savvidou, A. Manoura, E. Chatzidaki, E. Saitakis, K-M. Margari, C. Giannakopoulou 243 Kikuchi-Fujimoto disease or histiocytic necrotizing lymphadenitis.

Case report and literature review E. I. Christianakis, C. Papantzimas, G. Tapaki, N. Myriokefalitakis CLINICAL QUIZ 247 A 13-year old girl with pyrexia, weight loss and behaviour changes C. Koutsaftiki, G. Ntioudis, E. Mantziou, G. Papadopoulou-Tapaki, N. Myriokefalitakis PAEDIATRIC NEWS IN BRIEF 248 Greek paediatric research in international journals, 2007-2008 E. Galanakis NEWS FROM THE INTERNET 251 Web application of the Child Health Record - http://www.childhealthrecord.com M. Theodosiou, M. Diomidous, D. Zikos

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EDITORIAL BOARD

¢È¢ı˘ÓÙ‹˜ ™‡ÓÙ·Í˘

Editor-in-Chief

∫ˆÓÛÙ·ÓÙ›ÓÔ˜ ™ÙÂÊ·Ó›‰Ë˜, ∞ı‹Ó·

Constantinos Stefanidis, Athens

∂ȉÈÎÔ› ™˘ÓÙ¿ÎÙ˜

Section Editors

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Stella Andronikou, Neonatology, Ioannina

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Persefoni Avgoustides-Savvopoulou, Metabolic Disorders, Thessaloniki

∞Ó‰ÚÈ·Ó‹ µ·˙·›Ô˘-°ÂÚ·ÛÈÌ›‰Ë, ∂Ó‰ÔÎÚÈÓÔÏÔÁ›·, ∞ı‹Ó·

Andriani Vazaiou-Gerasimidi, Endocrinology, Athens

°ÂÒÚÁÈÔ˜ µ·ÚÏ¿Ì˘, ∫·Ú‰ÈÔÏÔÁ›·, £ÂÛÛ·ÏÔÓ›ÎË

George Varlamis, Cardiology, Thessaloniki

∂ÌÌ·ÓÔ˘‹Ï °·Ï·Ó¿Î˘, ∏ıÈ΋ Î·È ¢ÂÔÓÙÔÏÔÁ›·, ∏Ú¿ÎÏÂÈÔ

Emmanouil Galanakis, Ethics and Deontology, Heraklion

§ˆÚ¤ÙÙ· £ˆÌ·˚‰Ô˘, ∞Ó·Ù˘ÍȷΤ˜ ‰È·Ù·Ú·¯¤˜, ∞ı‹Ó·

Loretta Thomaidou, Developmental Pediatrics, Athens

ª·Ú›· ∫·Ó¿ÚÈÔ˘, ∞ÓÔÛÔÏÔÁ›·, ∞ı‹Ó·

Maria Kanariou, Immunology, Athens

∂˘ÛÙ·ı›· ∫·ÙÛ·ÚÔ‡-¶ÂÎÙ·Û›‰Ë, ¡Â˘ÚÔÏÔÁ›·, ∞ı‹Ó·

Eustathia Katsarou-Pektasides, Neurology, Athens

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Antonis Kattamis, Haematology - √ncology, Athens

™ÔÊ›· ∫›ÙÛÈÔ˘-∆˙¤ÏË, °ÂÓÂÙÈ΋, ∞ı‹Ó·

Sophia Kitsiou-Tzeli, Genetics, Athens

∞ÏÂÍ¿Ó‰Ú· ¶··‰ÔÔ‡ÏÔ˘, °·ÛÙÚÂÓÙÂÚÔÏÔÁ›· - ¢È·ÙÚÔÊ‹, ∞ı‹Ó·

Alexandra Papadopoulou, Gastroenterology - Nutrition, Athens

¡ÈÎfiÏ·Ô˜ ¶··‰fiÔ˘ÏÔ˜, ∞ÏÏÂÚÁÈÔÏÔÁ›· - ¶Ó¢ÌÔÓÔÏÔÁ›·, ∞ı‹Ó·

Nicos Papadopoulos, Allergology - Pneumonology, Athens

∞ÓÙÈÁfiÓË ™È·ÌÔÔ‡ÏÔ˘-ª·˘Ú›‰Ô˘, ƒÂ˘Ì·ÙÔÏÔÁ›·, πˆ¿ÓÓÈÓ·

Antigoni Siamopoulou-Mavridou, Rheumatology, Ioannina

ª·Ú›˙· ∆ÛÔÏÈ¿, §ÔÈ̈ÍÈÔÏÔÁ›·, ∞ı‹Ó·

Marisa Tsolia, Infectious Diseases, Athens

ª¤ÏË Ù˘ ¢ÈÂıÓÔ‡˜ ™˘ÓÙ·ÎÙÈ΋˜ ∂ÈÙÚÔ‹˜ ñ Members of the International Editorial Board Alexis Arzimanoglou, Paris, France

Peter Hoyer, Essen, Germany

Ellis D. Avner, Milwaukee, USA

Jan Janda, Prague, Czech Republic

Swati Bhave, New Delhi, India

Jan Kimpen, Ultrecht, Netherlands

Alberto Bissot, Panama, Panama

Craig B. Langman, Chicago, USA

David Branski, Jerusalem, Israel

John Manis, Boston, USA

Francesco Chiarelli, Chieti, Italy

Manuel Moya, Alicante, Spain

Chok-Wan Chan, Hong Kong, China

Hugh O'Brodovich, Toronto, Canada

Denis Daneman, Toronto, Canada

Ross Petty, Vancouver, Canada

Jochen Ehrich, Hannover, Germany

Willem Proesmans, Leuven, Belgium

Demetrius Ellis, Pittsburgh, USA

Jose Ramet, Antwerp, Belgium

Yoshikatsu Eto, Tokyo, Japan

Nikolai Shabalov, St. Petersburg, Russia

Richard N. Fine, Stony Brook, USA

Alan Sinaiko, Minneapolis, USA

Margaret C. Fisher, Philadelphia, USA

Nick J. Spencer, Coventry, UK

Raif Geha, Boston, USA

Alfred Tenore, Udine, Italy

Adenike Grange, Lagos, Nigeria

Alkis Togias, Bethesda, USA

Judith G. Hall, Vancouver, Canada

Eva Tsalikian, Iowa City, USA

Patricia Hamilton, London, UK

Catherine Weil-Olivier, Paris, France

Enver Hasanoglu, Ankara, Turkey

Max Zach, Graz, Austria

Christer Holmberg, Helsinki, Finland

Zheng-Yan Zhao, Hangzhou, China

Lewis B. Holmes, Boston, USA

Johannes Zschocke, Heidelberg, Germany

v

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REVIEW ARTICLE

∞¡∞™∫√¶∏™∏

177

Abstract: Many paediatric diseases have reached a therapeutic plateau using currently available surgical

1 Department of Physiology, Medical College of Wisconsin, Milwaukee, WI 2 Department of Medicine, Kidney Disease Center, Medical College of Wisconsin

Gene therapy for the kidney using viral vectors T. Akbulut1, F. Park1,2 and pharmacological approaches. Gene therapy has emerged as an exciting new technology for manipulating cells in the mammalian system, and in some cases, this method has achieved impressive therapeutic benefits. Compared with other organs, such as the brain, liver and lung, methods for genetically modifying renal cells have received relatively little attention. This review discusses the challenges and important developments regarding gene therapy for the kidney, and relates the recent successes and failures to the future potential of gene therapy as a treatment modality in the context of paediatric renal disease.

Key words: Gene therapy, paediatrics, genetic disease, viral vectors.

Introduction The developing kidney is known to be subject to numerous inherited and/or acquired diseases, of which many are developmentally debilitating and in some cases, lethal (1,2). Conventional surgical and pharmacological methods capable of ameliorating or even providing a cure for many of these diseases have yet to be developed, because of a lack of information regarding their aetiology. For this reason, the treatment of various paediatric renal diseases has reached a plateau, and alternate strategies are required, including the development of gene therapy vectors derived from viruses.

Gene therapy vectors based on viruses have been studied over the past 30 years, but at present, their use of viral vectors in modifying renal cells has been limited, especially in the study of paediatric diseases. The biology of developing cells can vary greatly in comparison to that of terminally differentiated, adult cells, and so the requirements in the design and development of viral vectors in the treatment of paediatric diseases present a different challenge. For those genetic and environmental diseases that require long-term gene expression to ameliorate their aberrant phenotypes, viral vectors will need to be capable of maintaining their presence within the cell, since most of the normal and pathological cells in paediatric patients will be in a continual and random state of mitotic flux. Other proliferative diseases, such as renal cell carcinoma or nephroblastoma (Wilms’ tumour), may not require long-term persistence by the vector as long as the duration of the therapeutic effect is sufficient to eliminate the oncogenic cells prior to the loss of the vectors from the targeted cells.

It is important to note that a further compli-

Correspondence: Frank Park fpark@mcw.edu Department of Medicine Kidney Disease Center Medical College of Wisconsin 8701 Watertown Plank Rd., HRC 4100 Milwaukee, WI 53226

cating issue in developing a treatment regimen for the kidney using viral vectors is the complex anatomical structure of this organ. The kidney is comprised of various types of distinct vascular, interstitial and tubular cells, and the access to some of these cells can be limited due to their location within the kidney and lack of adequate blood flow. The route of delivery into the kidney will prove to be an important factor regardless of the vector being considered for use as a gene therapy vehicle.

In this review, the pros and cons of the well known viral vector systems will be discussed in the context of the kidney, along with other gene therapy applications that may provide therapeutic potential in the future.

Adenoviral vectors. Adenoviral (Ad) vectors have been one of the most well characterized and extensively studied gene therapy systems over the past 20 years. Characteristically, Ad vectors are predominantly non-integrating episomal, non-enveloped, and double-stranded DNA viruses that have demonstrated broad tropism to numerous cell types in vivo, including the kidney (3,4,6). Early-generation Ad vectors had moderate cloning capacities (~8 kb), but more recently developed helper-dependent (also known as “gutted”) Ad vectors have extremely large cloning capacities (~37 kb) (5). The moderateto-large cloning capacities constitute a clear advantage for these vectors for inserting large promoter and/or transgene fragments for gene expression studies. A generic schematic of viral vector production is shown in Figure 1.

Through Ad vectorology, this virus has been modified to generate both replication-defective and replication-competent systems for treating various types of genetic- and environmentally¶·È‰È·ÙÚÈ΋ 2008;71:177-185

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178

T. Akbulut, F. Park

based pathologies in many different organs (4), including the kidney. However, the majority of the studies to date have focused on the replication-defective vectors for gene therapy applications in the kidney (6). In general, most of the pre-clinical experiments using Ad vectors have investigated the transduction efficiency in the kidneys of small and large adult animal models, but their efficiency has been relatively poor. One reason for this is related to the complexity of the renal vascular and tubular architecture, which has been found to make the route of administration into the kidney (as shown in Figure 2) an important factor for transduction of distinct cell types (7-21). Numerous studies over the years have shown a fairly poor transduction into various renal tubular, vascular, glomerular and interstitial cells, regardless of whether the Ad vector was administered anterograde through the renal artery (7,8), retrograde into the ureter (7), or directly into the renal interstitial parenchyma (9). Even prolonged infusion of the Ad vector in vivo and ex vivo into pig (10,11), rat (21) or isolated human kidneys (12) has not markedly increased the transduction efficiency regardless of the species. In general, most of the intravenous and intrarenal infusion studies have shown a propensity for the Ad vector to be more effective in transducing renal epithelial cells than other cell types in the kidney.

Another reason for the lack of efficient transduction may be attributed to the low vector titer that reaches the target cells. It has been found that the liver and spleen remove a large percentage of the vector from circulation following a single pass (22,23). By blocking the portal circulation, Ye et al. (24,25) achieved ~85±10% glomerular transduction efficiency by intravenous administration of Ad vector. Prolonged infusion of hightiter Ad vector (>7.5 x 1011) into young Sprague Dawley rats resulted in predominant expression of lacZ transgene in glomeruli (30-70%) (15,25), whereas lower vector titers were unable to transduce the glomerular cells efficiently. Similar high levels of glomerular transduction were also observed in pigs (10,11). There may be differences between the species and cell-type localization of the receptors needed to promote Ad vector internalization resulting in varying degrees of transduction efficiency (26).

In order to optimize transduction of renal cells in vivo, a molecular strategy to re-target the Ad vector is needed. Ad vector binding to target cells and its subsequent internalization require particular receptors and co-receptors (27,28). Until recently, the tropism of the Ad5 vector has been attributed largely to the fibre region on the capsid (29). Manipulation of the fibre region by pseudotyping the Ad5 capsid with eiPaediatriki 2008;71:177-185

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Ad LENTI

AAV

Figure 1. General strategy for viral vector production. Wild type viral genome is composed of mostly non-overlapping cis- and trans-acting elements which could be genetically engineered and spliced into two or more components to create viral vectors.

Production of viral vectors generally involves two or more plasmids.

The first plasmid, known as the transfer plasmid, contains minimal yet vital parts of the virus genome (cis-acting elements) and the viral genes are replaced with an expression cassette (i.e., promoter and full-length cDNA or short hairpin RNA sequences). Cis-acting elements include non-coding viral DNA required for vector packaging (PD) and end-terminal regions needed for vector stability (ETR). The other plasmid(s) known as helper plasmid(s) contain trans-acting elements (TAE) that encode for essential viral genes required for virus replication and structural integrity. In some cases, TAE can be inserted into the packaging cell lines to simplify vector production. These viral genes can be cloned into a single plasmid or fragmented into multiple plasmids to increase the biosafety of the vector system. Each of the vector plasmids are subsequently transfected into the packaging cell line, which are generally 293-based cells, and after a period of time, the cells and/or supernatant are collected with the functioning vector particles.

Abbreviations: ETR: End-terminal regions, PD: Packaging Domain, TAE: trans-acting elements, EC: Expression cassette, P: Promoter, Ad: Adenoviral vector, LENTI: Lentiviral vector, AAV: Adenoassociated viral vector; Other: Other viral vector systems.

ther wild-type Ad-19p fibre (30) or Ad-19p fibre modified to include various kidney specific peptides (31) resulted in a striking lack of hepatic tropism. Instead, successful transduction into renal glomeruli and/or tubular structures was achieved, even with systemic administration and did not require direct renal infusion. Recent studies have demonstrated that coagulation factor X (FX) can be vital to Ad vector targeting to the liver (32,33), and that blockade of the Ad-FX interaction results in the re-targeting of the vector to extra-hepatic organs. Waddington et al.

(34) in seminal work demonstrated that the binding

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3. Intraparenchymal 1. Vascular artery Renal ein al v Ren

2. Ureteral

Figure 2. Routes of vector administration in the kidney. Three major routes of viral vector administration to the kidney are depicted in the figure as follows: 1. vascular administration via the renal artery; 2. retrograde infusion via the ureter; and 3. direct intra-parenchymal injection in either a single or multiple sites throughout the kidney. Details regarding each of these methods are described in the text.

of the Ad vector to FX is not attributed to the fibre, but rather to the hexon protein found in the capsid.

This revelation has opened the door to a whole new area of Ad vectorology, which may produce a new method for re-targeting these vectors to the kidney more efficiently.

While the high tropism and the large cloning capacity are the two major advantages of this vector system, the hallmark complication associated with Ad vectors is its transient gene expression (generally <3 weeks) (3,4) due to the episomal nature of the viral genome following infection and the robust immune response against the Ad vector-transduced cells (35).

Lipshutz et al. (36) showed that the transgene expression following Ad vector administration in utero was barely detectable 2 weeks after birth due to loss of the Ad vector in the rapidly growing foetus. Investigators have attempted to overcome the episomal loss of the Ad vector by developing hybrid Ad vectors in which components from retroviruses (37), retrotransposons (38), transposons (39) and AAV (40) have been incorporated in the Ad genome. These newer hybrid vectors have not been tested for renal-based gene therapy approaches in vivo, but they should be able to maintain long-term transgene expression similar to the results obtained in other organs.

The development of innate and adaptive immune responses, as well as activation of other inflammatory

pathways promoting adverse effects due to Ad vector administration (41,42), remain difficult challenges that gene therapy researchers are working hard to overcome. One solution may be the application of hybrid Ad vectors during embryogenesis, at which stage the immune system may not have had time to mature (43). For children with more mature immune systems, investigators may be able to use helper-dependent Ad vectors, which are devoid of the viral genes associated with activating the immune system, and have been shown to persist over long periods of time even in immune-competent animals (5). However, even for these “gutted” Ad vectors, modifications to the capsid structure will be necessary in order to minimize the acute toxic effects that are associated with the delivery of high-titer Ad vector (41,42).

The transient persistence of the non-hybrid Ad vectors may limit their use for gene therapy applications requiring chronic gene expression in vivo, but this is not likely to be an issue in the treatment of the prevalent renal cancers in paediatrics, such as nephroblastoma (Wilms’ tumour) or renal cell carcinoma (RCC) (44). Replication-defective Ad vectors have been shown to reduce RCC tumour size following expression of suicide genes, such as herpes simplex virus thymidine kinase (HSV-tk) gene (44).

However, there is a lack of the Coxsackie and Adenovirus Receptor (CAR) on many types of renal cancer cells (45), so the possibility of manipulating oncogenic cells may be limited. To circumvent this problem, an alternative approach could be to use replicating-competent or oncolytic Ad vectors, which aim to kill the tumour cells as a result of Ad vector replication, even though only a few cells may initially continually being be infected. Re-targeting strategies are continually being developed for the Ad vector using tumour specific antigens (46), CAR-independent uptake mechanisms (45), or capsid modifications (45,47). These vectorological changes have led to increased specificity and transduction efficiency in various cancer cells isolated from animal models and human kidney patients (47).

Compilation of the currently available studies has revealed significant promise in the application of Ad vectors for renal gene therapy as shown by the successful expression of numerous gene products, including FasL (18), Bcl-2 (19), CTLA4Ig (20) and heme oxygenase (13). By combining the findings of earlier studies with the latest technology related to the re-targeting of the Ad vectors, these vectors may still prove to have an important role in gene therapy applications in paediatric kidneys. At the present time, however, there are clear barriers as to which cell types ¶·È‰È·ÙÚÈ΋ 2008;71:177-185

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can be transduced within distinct regions of the kidney, and the transduction efficiency appears to be dependent on the route of administration. It may be concluded that the slow perfusion of a high-titer Ad vector at a dose greater than 1 x 109 I.U. via the renal artery or ureter, which allows for the maximization of the contact time between the vector and target cell, provides the best possible method to modify renal cells in vivo.

Adeno-associated viral (AAV) vectors. AAV was originally discovered as a “contaminant” of the adenovirus, and has become a popular virus for study in the development of gene therapy application for a number of reasons: Firstly, AAV has been found to be nonpathogenic in humans (48). Secondly, AAV genomes can persist following infection in host cells, either as multimeric concatemers or as an integrant into the host genome. However, the latter event is extremely rare for AAV vectors (49), and the lack of integration minimizes the chance for insertional mutagenesis unlike retroviral vectors (see following section on Integrating viral vectors). It is interesting that wild-type AAV can integrate into a specific region of chromosome 19, but the replication-defective AAV vectors that are used for gene therapy applications have been found to integrate randomly into the genome (49).

One of the main limitations to the use of AAV vectors for gene therapy is its relatively small packaging capacity (~4.5 kb), and so extremely large cDNAs cannot be cloned into the vector and packaged efficiently (50). In a similar way to that of Ad vectors, an innate and/or humoral response against the vector has been shown to be developed (48), although alterations in the viral vector could help weaken the anti-vector immune response by removing the antigenic proteins in the AAV capsids. The replacement of the capsid proteins from alternative serotypes, such as AAV7 and AAV8, would minimize the humoral response in most patients (51,52). A generic schematic of viral vector production is shown in Figure 1.

Although many gene therapy applications have been performed over the past decade in different organ systems, the number of studies targeted at the kidney with various serotypes of AAV has been limited. Similar to the findings of experiments performed with adenoviral vectors, the efficiency of transduction was dependent on the route of administration (see Figure 2). Retrograde infusion of AAV serotype 2 (AAV2) by Ito et al. (53) resulted in moderate expression exclusively in the tubular cells in the renal medulla. Renal arterial infusion into rat kidneys showed restricted transduction into the S3 segment of the proximal tubules and intercalated cells of the renal Paediatriki 2008;71:177-185

medulla with no expression detected in the glomeruli (54). To circumvent the complex architecture of the kidney, Lipkowitz et al. (55) attempted to genetically modify renal cells by direct intraparenchymal injection of AAV2 into mouse kidneys, but this resulted in only low expression of tubular structures near the needle track with no expression in the glomeruli or vasculature. This indicated that the AAV vector did not spread efficiently following direct infusion into the kidney. In a comparative study using serotypes of AAV1 to AAV5, it was found that AAV2 was the best transducing system in the kidney among the various serotypes (56).

Recent experiments by numerous researchers have isolated novel serotypes with the potential of enhancing the transduction efficiency into various organs in vivo, including the kidney. Nakai and associates have shown that AAV8 and AAV9 could infect mouse kidneys as determined by the relatively high AAV genome copy numbers using Southern blot analysis (57,58). Transgene expression in the kidney as a result of AAV infection was not determined in these studies.

More recently, Bostick et al. (59) demonstrated that AAV9 transduction into the kidney was age-dependent, and that only adult kidneys, but not newborn kidneys were capable of being infected by this particular serotype when administered intravenously. This relates to early studies by Lipshutz et al. (60,61), which demonstrated decreasing expression of transgene during the first month of life, followed by AAV2mediated in utero administration. Even though longterm expression was maintained throughout the life of the animal at detectable levels, the initial loss in transgene expression poses as a potential problem for the use of this vector to treat chronic, debilitating diseases in the developing kidney. Considerable work is needed to elucidate the relative importance of the alternative serotypes of AAV, and their potential role for therapeutic applications for the kidney.

Integrating viral vectors: Retroviral and lentiviral vectors. Biologically, simple and complex retroviruses contain single-stranded RNA genomes that are converted into double stranded DNA through a reverse transcription phase prior to integrating into the host genome. For this reason, these viral vectors have been widely studied as gene therapy tools for a number of different diseases. More detailed vectorology of the retroviral and lentiviral vectors can be read elsewhere (3) and a generic schematic of vector production is shown in Figure 1. Because active proliferation occurs during embryonic and adolescent development, retroviruses would be ideal genetic modifiers for treating paediatric diseases, since copies of

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the integrated provirus would be capable of propagation in progeny cells, unlike the non-integrating vector systems. i. Oncoretroviral vectors. The first clinical gene therapy trial in SCID-ADA children was performed using ex vivo genetically manipulated cells using a simple retrovirus derived from the Moloney leukaemia virus (MLV) (62). Subsequent studies attempted to investigate the efficiency of retroviral vector transduction into the kidney, but the absolute number of genetically modified cells was extremely low. One of the reasons that in vivo gene therapy using retroviruses has been limited is the necessity of nuclear membrane breakdown to render the vector capable of genomic DNA integration (63,64). However, retroviral vector transduction remained extremely low even if it was administered in actively proliferating renal cells in vitro using metanephric tissue (66) or in vivo using chemically injured mouse kidneys (65).

In addition to the poor transduction, serious adverse effects in children with X-linked SCID (67-70) following treatment with MLV-transduced haematopoietic stem cells ex vivo has led to renewed efforts to develop alternative complex retroviruses (also known as lentiviruses) isolated from either humans (71) or other species (72-74). ii. Lentiviral vectors. A few studies have documented the efficiency of lentiviral vectors pseudotyped with vesicular stomatitis virus G protein (VSV-G) into the kidneys in vivo (75,76). Compared to retroviral vectors, lentiviral vectors have been shown to be more efficient in transducing terminally differentiated cells, yet actively cycling cells administered with lentiviral vectors can further increase their efficiency (77,78).

Details regarding the vector design have been published elsewhere (3,79). In adult mouse kidneys, Gusella et al. (75,76) found that renal artery perfusion resulted in tubular cell transduction in the outer medullary region of the kidney, whereas retrograde infusion into the ureter led to exclusive collecting duct transduction in the medullary region. The laboratory of the authors has infused higher titers of VSVG pseudotyped lentiviral vectors (>109 T.U./kidney) into rodent renal arteries and found results similar to those of Gusella et al. (75,76) except for random glomeruli expressing the EGFP marker gene (unpublished observations). Due to the relatively moderate transduction in low mitotic renal cells, it is likely that increased efficiency would be obtained if the lentiviral vector were applied in younger, actively proliferating kidneys, as previously found in mouse livers and other organs (9,80), or even in early embryogenesis (73,81).

With increased genetic screening for kidney-based diseases (82), such as autosomal dominant or recessive polycystic kidney disease, there may come a time when genetic modification of early progenitor cells may become a viable method to circumvent the need to abort the foetus, or give birth to a child with a lethal or severely debilitating disorder. Recent studies have manipulated fertilized zygotes using lentiviral vectors to produce transgenic animals with global transgene expression in the kidneys (81). To minimize the offtarget effects of expressing transferred genes, vectors would need to be designed with organ- or even celltype specific promoters to produce exclusive expression in the kidney. Another possibility may be to manipulate renal cells during foetal development as shown by Waddington et al. (73), although in that instance only a few renal cells were found to express the marker gene.

One of the limitations of lentiviral vector transduction into the kidney is probably due to the currently used envelopes for coating the vector system. In general, the VSV-G protein that was isolated from the rhabdovirus has been widely used to study lentiviral vector transduction. However, the native virus is neurotropic and so swapping with renal-tropic envelope proteins (also known as pseudotyping) may provide significant enhancement for renal cell transduction.

Another benefit of pseudotyping is that alternative envelopes may circumvent the activation of the immune system whereby the VSV-G envelope has been shown to stimulate humoral responses against the vector (83). Advances in lentiviral vectorology will inevitably demonstrate the viability of this vector system for renal-based diseases.

To date, human clinical trials have been conducted using lentiviral vectors in which haematopoietic stem cells were transduced to conditionally express antisense RNA sequences against HIV genes (84,85).

The first human trial using lentiviral vectors documented several biosafety features of this system to help promote its future use for other gene therapy applications (85). Although there are no current trials including children using lentiviral vectors, the findings from the adult trials may provide an important treatment for paediatric AIDS, and this should open the door to many new trials for other lentiviral vector applications to the kidney.

Non-viral vector systems and other potential approaches. Alternative methods consisting of naked DNA transfection with liposomes (86,87) or inactivated Sendai virus (the haemagglutinating virus of Japan, HJV) (88-90) have been examined as potential vehicles for transfection of the kidney in vivo, but in general, the ¶·È‰È·ÙÚÈ΋ 2008;71:177-185

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transgene expression and transfection efficiency remain poor and transient. In many cases, they still lag far behind the currently discussed viral vector. However, the HVJ-liposome vector approach remains one of the few methods to target the glomeruli (88,89), and even with the relatively low transfection efficiencies, it has shown to mediate biological changes. Moreover, retrograde infusion of a modified HJV-liposome complex using an artificial viral envelope (AVE) has also been found to transfect interstitial cells (90), which may be important as a potential tool for studying therapies for interstitial fibrosis.

It is likely that alternative viruses will be studied and developed as gene therapy vectors for the treatment of renal diseases, since a viral vector that can be effectively used for renal gene therapy has yet to be found. Candidate viruses that may become important players could be human foamy virus vectors (91) or other viruses not yet developed from the polyoma family, such as BK (92,93), or the bunyavirus family, such as hantavirus (94). The latter two viruses are both known to have renal cell tropism. It will be interesting to observe what new vector systems will become available for use in renal gene therapy as the field of vectorology continues to evolve. However, in the near future, it may be necessary to use genetically modify extra-renal sites that secrete proteins into the circulation for targeting the kidney to mediate its therapeutic effect, until more efficient vector systems are designed and developed for direct renal gene therapy (74).

Perspective on renal gene therapy.

Although the effectiveness of viral vectors in manipulating renal cells has not been extremely successful, unlike other organ systems, there is a definite need to continue the investigation of vectors for effectively modifying this important organ. There are many diseases that originate in the kidney, particularly in newborns and young infants, for the treatment of which evolution of viral vector technology must culminate in successful vectors. The field of viral vectorology is still in its infancy with respect to the kidney, so there is great optimism for success especially with the expanding information regarding genomics and gene therapy trials. Continued research into viral vectorology will ultimately produce a vector system, possibly derived in some form from those discussed in this review, to treat paediatric renal diseases in the future.

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REVIEW ARTICLE

∞¡∞™∫√¶∏™∏

Left ventricular mass index in hypertensive children and adolescents 1 Paediatric Intensive Care Unit, Hippokration Hospital, Thessaloniki, Greece 2 Hypertension Center, 3rd Department of Medicine, Papageorgiou Hospital, Aristotle University of Thessaloniki, Greece Correspondence: Stella Stabouli sstaboul@med.uoa.gr Pediatric Intensive Care Unit, Hippokration Hospital, Thessaloniki, Greece

S. Stabouli1, V. Kotsis2 Abstract: The increasing trend of high blood pressure in children and adolescents has raised interest in blood pressure measurement in the paediatric setting. Evidence of target organ damage, predominantly an increased left ventricular mass index (LVMI), even in children and adolescents with mild hypertension, has indicated the risk of adverse cardiovascular outcome in early adulthood. Left ventricular hypertrophy is a readily assessed hypertensive target organ damage because of the wide availability of echocardiography. The necessity to assess subtle alterations in cardiac structure in children has led to the use of percentile distributions for LVMI. The relationship between LVMI and blood pressure values in children and adolescents has been the focus of several studies. Although most studies have demonstrated associations between systolic blood pressure and LVMI across a wide range of blood pressure levels in children and adolescents, data correlating blood pressure values with target organ damage and cardiovascular morbidity and mortality are not yet available. However the presence of increased LVMI is generally accepted as an indication for antihypertensive therapy. Published guidelines and new techniques aim to facilitate the early diagnosis of hypertension in paediatric patients and introduce new elements into treatment strategies. Using blood pressure values obtained both in and outside of the clinic setting along with evidence of cardiac structural alterations could lead to successful reduction of cardiovascular risk.

Key words: Blood pressure, essential hypertension, left ventricular mass index.

Abbreviations BP LV LVMI LVH ABP

Blood pressure Left ventricular Left ventricular mass index Left ventricular hypertrophy Ambulatory blood pressure

Introduction Hypertension is a well-established risk factor for cardiovascular morbidity and mortality in adults. Sustained elevation of blood pressure (BP) impacts the vascular wall, the heart, the kidney and the central nervous system (CNS), producing hypertension induced target organ damage (1,2). Left ventricular hypertrophy (LVH) is a target organ damage of hypertension, which is independently associated with increased risk for myocardial infraction, congestive heart failure and sudden death (3). De Simone et al., showed that left ventricular mass index (LVMI) greater than 51 g/m2.7 is associated with a fourfold increase in risk of adverse cardiovascular events in adults with hypertension (4). In the Framingham study, LVMI and age were strong and consistent predictors of all cause mortality, cardiac death and coronary heart disease (5).

During the last few years, the recognition of Paediatriki 2008;71:186-191

increasing trends of essential hypertension in children and adolescents has posed concerns for the long-term health risks in this age group (6).

Due to the relatively short period of hypertension, the presence of clinical manifestations such as congestive heart failure, renal insufficiency or acute encephalopathy in children and adolescents is rare and consequence of very high BP values (7,8). Epidemiological studies have shown that the levels of elevated BP in children and adolescents are usually mild with a predominance of isolated systolic hypertension (9,10). As morbid cardiovascular events are rare in pediatric patients except in severely hypertensive children and adolescents, investigation has relied on surrogate markers of hypertensive target organ damage such as LVH in order to identify hypertensive children and adolescents at risk for complications later in life (10-13).

Increased LVMI has also been associated with other conditions independent of hypertension such as obesity and chronic kidney disease (14,15). LVH remains the best documented target organ damage of hypertension in young populations. However, the level and duration of BP elevation that results in hypertensive target organ damage in children and adolescents remains

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poorly defined. In the Fourth report on the diagnosis, evaluation and treatment of high BP in children and adolescents, it is recommended that pediatric patients with established hypertension should have echocardiographic assessment of left ventricular mass at diagnosis and periodically thereafter. In addition the presence of increased LVMI is an indication to initiate or intensify antihypertensive therapy (10).

IVS

LVID

Pathogenesis of left ventricular hypertrophy in human hypertension Abnormal increases in left ventricular (LV) mass occur in response to pathological changes in the haemodynamic load (16). Increased wall stress and strain, invoked by increased BP, result in molecular changes, cellular hyperplasia and increased thickness of LV myocardium (17). These changes aim to protect the myocardium from excessive wall tension by minimizing oxygen consumption and provide sufficient strength to maintain adequate cardiac output. Two factors in the pathogenesis of hypertension itself, obesity and increased dietary sodium intake can result in volume overload and possible activation of renin angiotensin system. However, the pathogenesis of LVH in hypertension seems to be mediated by the contribution of non-haemodymamic factors that also stimulate cardiac muscle growth. Extremely high LVMI inappropriate for body size and hemodynamic load have been associated with an adverse cardiovascular phenotype independently of BP values. The genetic background in terms of ethnicity and genotype has been demonstrated to play a significant role in predicting hypertrophic process (18). Biological mediators such as insulin growth factor 1 and neurohormones (angiotensin II, aldosterone, endothelin) may also involve in the pathogenesis of LVH in human hypertension (17).

Echocardiographic measurements of left ventricular mass LV mass is determined from echocardiographic measurements of the left ventricle by standard techniques. 2-dimensional guided M-mode echocardiographic measurements of the left ventricle internal dimension, interventricular septal thickness, and posterior wall thickness are made during diastole according to methods established by American Society of Echocardiography (Figure 1) (19). Devereux et al., equation is used to calculate LV mass: LV mass= 0,8 [1,04 (LVIDd + IVSTd + PWTd )3 LVIDd3] + 0,6 LVIDd is left ventricular internal diameter in di-

PW

Figure 1. Measurements of LV mass by M-mode echocardiography.

LVID: left ventricle internal dimension, IVS: interventricular septum, PW: posterior wall.

astole, IVSTd is intraventricular septal thickness in diastole, and PWTd is posterior wall thickness in diastole (20). Cross-sectional studies have shown that body size and gender are important determinants of left ventricular growth. LVMI was determined as the most appropriate method to remove the effect of normal variation of body size from the clinical evaluation of LV mass. LVMI is calculated by dividing LV mass by height in meters raised to the power of 2.7.

LVMI in paediatric patients is then compared with standards and percentiles based on measurements on normal children and adolescents (21,22). LVH is defined as LVMI ≥95th percentile for normal children and adolescents. The cutpoint of 51 g/m2.7 for LVMI which has been determined as indicative of fourfold greater risk for cardiovascular disease in adults is above the 99th percentile for LVMI in normal children and adolescents.

Abnormalities in LV mass can be defined both by a standard measure above which mass is considered excessive for body size and by geometric patterns associated with increased morbidity. Classification of hypertensive paediatric patients by their ventricular geometry pattern (concentric, eccentric hypertrophy, or concentric remodeling) may improve ability to predict cardiovascular risk (23-25).

Blood pressure measurements and definition of hypertension in children and adolescents Diagnosis of hypertension is critically dependent on accurate BP measurement (26-29). Accurate BP measurement is important in children and adolescents because misdiagnosis and undertreament can result in life-long adverse impact on cardiovascular ¶·È‰È·ÙÚÈ΋ 2008;71:186-191

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Table 1. Classification of hypertension in children and adolescents Category

Systolic and/or Diastolic BP percentile for gender, age, and height

Normotension Prehypertension

<90th percentile ≥90th and <95th percentile or BP≥120/80 mm Hg 95th-99th percentile +5 mm Hg >99th percentile + 5 mm Hg

Stage 1 hypertension Stage 2 hypertension

health. Diagnosis of hypertension in children and adolescents also requires knowledge of the normal values of BP in this age group (10,11). BP should be preferably measured with a standard mercury sphygmomanometer because BP reference tables are based on auscultatory measurements. However, there is an increase in the use of automated devices for measuring BP in children as these devices are easier to use and are alternative instruments for BP measurement when use of mercury sphygmomanometers is not permitted for ecological reasons (10,13).

Diagnostic criteria for elevated BP in children and adolescents are based on the concept that BP increases with age and body size. According to the Fourth report on the diagnosis, evaluation and treatment of high BP in children and adolescents, hypertension is defined as average systolic BP and/or diastolic BP ≥95th percentile for gender, age, and height on 3 or more occasions (10). Stage 1 hypertension is defined as systolic BP and/or diastolic BP ≥95th to 99th percentile for gender, age, and height + 5 mm Hg and stage 2 hypertension as systolic BP and/or diastolic BP ≥99th percentile for gender, age, and height + 5 mm Hg. Furthermore, children and adolescents with an average systolic and/or diastolic BP ≥90th but <95th percentile for gender, age, and height are characterized as prehypertensive (Table 1).

Accumulating evidence suggests that ambulatory blood pressure (ABP) monitoring is a more accurate method for diagnosis of hypertension than clinic BP measurement, and it is better associated with target organ damage (29-36). ABP monitoring is a noninvasive, fully automated technique in which BP is recorded over an extended period of time, typically 24 hours with minimal intrusion into the daily activities of the patient. Therefore it better represents minute-tominute BP alterations in response to various environmental stimuli throughout the day. The use of ABP in clinical practice has also increased the awareness of BP patterns that are not easily apparent using traditional techniques of BP measurement. ABP monitoring is especially helpful in identifying individuals with nocturnal hypertension, white-coat hypertension (elPaediatriki 2008;71:186-191

Left ventricural mass/height2.7 (g/m2.7)

S. Stabouli, V. Kotsis

60 Linear Regression 50 40 30

Male gender Female gender

20 24-hours systolic BP (mm Hg)

Figure 2. Linear relationship of LVMI and 24-hours systolic BP in normotensive and hypertensive children and adolescents (Stabouli et al. unpublished data).

evated BP in the clinical setting but normal ABP), and masked hypertension. The latter is a condition that applies to patients whose clinic BP is normal, but ABP is elevated and has been associated with increased LVMI in both adults and children (36). The Fourth report on the diagnosis, evaluation and treatment of high BP in children and adolescents acknowledges the use of ABP monitoring in the diagnosis and management of hypertension in children, but it outlines that it has to be used by experts in its use and interpretation. Reference values for ABP measurement in children and adolescents based on the statistical parameters of BP distribution, indexed by gender and height, establish the 50th, 90th, and 95th percentiles for 24hours and daytime BP, separately (37-40).

Relations between BP and LVMI in children and adolescents Many studies have investigated the relationship between BP and LV mass in children and adolescents (Table 2). In hypertensive children and adolescents the reported prevalence of LVH ranges from 10% to 46% depending on the method correcting for body size (adjusted for height, body surface area, weight and height raised to various powers) and the characteristics of the study population. In the Bogalusa study, Burke et al., reported in 654 healthy subjects, aged 7-22 years, that after adjustment for body size, LV wall thickness was associated with the level of systolic BP (41). In the Muscantine study, in 904 normotensive subjects, aged 6-17 years, a strong positive association was found between LV mass and both systolic and diastolic BP (42). The same relation between BP and LV mass was demonstrated in hypertensive children and adolescents. Daniels et al., showed that

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Table 2. Studies on LVH in children and adolescents with essential hypertension Author (ref)

Country

Year

No of Subjects

Prevalence of LVH

Setting

Daniels et al. (43) Belsha et al. (45) Sorof et al. (44) Hanevold et al. (46) Sorof et al. (52) Litwin et al. (47) McNiece et al. (48) Stabouli et al. (49) Seeman et al. (55) Asadi (56)

USA USA USA USA USA Poland USA Greece Czech Republic USA

1998 1998 2002 2004 2004 2005 2007 2007 2007 2002

130 62 37 129 54 175 160 67 21 64

46% 34% 27% 41.1% 28% 41.6% 16.8% 10% 42% 36%

Hypertension Clinic Hypertension Clinic Hypertension Clinic Hypertension Clinic General population Hypertension Clinic Hypertension Clinic Hypertension Clinic Hypertension Clinic Hypertension Clinic

increased LVMI is relatively prevalent in pediatric patients with hypertension (43). They reported in a study of 130 hypertensive children and adolescents that 46% of the patients had LVMI greater than the 95th percentile and 8% had LVMI above the adult cut point of 51 g/m2.7. Among the patients with LVH, 64% had eccentric hypertrophy and 36% had concentric hypertrophy. They also reported that male sex, increased body mass index, and low heart rate during exercise were significant predictors of severe LVH. Sorof et al., found a 27% prevalence of LVMI above the adult cut point of 51 g/m2.7 in 37 untreated severely hypertensive children (44). Belsha et al., performed ABP monitoring and echocardiography in untreated adolescents with mild essential hypertension and reported a 34% prevalence of LVH (45). Clinic systolic and diastolic BP, daytime systolic BP but not diastolic BP were correlated with LVMI. Nighttime systolic BP demonstrated the closest correlation with LVMI. Other investigators underlined the effect of ethnicity in the prevalence of LVH in paediatric hypertension (46). LVH is more prevalent in Hispanic and African American children compared to white children. In a European study Litwin et al., included children with newly diagnosed essential hypertension and reported a 41.6% prevalence of LVH. 13.2% of the children had LVMI greater than the adult cutpoint (47). They also found that LVMI was correlated with 24-hours systolic BP and 24-hours heart rate.

Two studies investigated the relationship between BP and LVMI according to the severity of hypertension. McNiece et al., performed a retrorespective analysis of data from 2 cross-sectional studies using the Fourth report on the diagnosis, evaluation and treatment of high BP in children and adolescents staging criteria for hypertension (48). A total of 163 adolescents were analyzed. LVH prevalence significantly differed between the normotensive, stage 1 and stage 2 hypertension groups with the greater risk for LVH seen among those with stage 2 hypertension. Stabouli

et al., studied 67 children and adolescents, age range 5-20 years, referred for evaluation of essential hypertension (49). They demonstrated that LVMI was increasing from the normotensive to the prehypertensive and the hypertensive group. Statistically significant differences were found between the normotensive and the hypertensive group and between the normotensive and the prehypertensive group. In the same study BP group and male sex were independently associated with LVMI. In the two aforementioned studies LVMI was greater in groups with higher ABP. This finding encompasses the known relationship between LVMI and systolic BP, which becomes more evident when BP is measured using ABP monitoring (Figure 2) (50,51).

In all previous studies in hypertensive children and adolescents, subjects were referral population from hypertension clinics. Therefore, they may overestimate the frequency of LVH in hypertensive children and adolescents as patients referred for evaluation may have more severe hypertension than patients recruited from population based studies. Sorof et al., compared the LVMI between hypertensive children referred for evaluation by primary care providers and hypertensive children identified through communitybased screening and found greater LVMI and higher prevalence of LVH in referral subjects (49% vs. 28%) (52). The overall prevalence of LVH was 37%. After correcting for body mass index z score, which was significantly higher in the referral group, the differences between the 2 groups did not persist.

BP reduction results in LVH regression in many clinical trials in adult populations. Brilla et al., in a study that included myocardial biopsies before and during antihypertensive treatment, found reduction in interstitial fibrosis and myocyte diameter by angiotensin converting enzyme inhibitor and diuretic treatment, respectively (53). In the TOMHS study, lifestyle changes that led to BP control achieved LVMI reduction (54). Recent studies have also provided ¶·È‰È·ÙÚÈ΋ 2008;71:186-191

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evidence that LVMI decreases in hypertensive pediatric patients with BP lowering therapy. Seeman et al., demonstrated that angiotensin converting enzyme inhibitor monotherapy in paediatric patients reduced not only BP but also LVMI levels (55). In another study, BP lowering by angiotensin converting enzyme inhibitor treatment was associated with a significant decrease in LVMI in hypertensive children and adolescents (56). There was more positive therapeutic response with regard to LVH among the patients with stage 2 compared to those with stage 1 hypertension.

In multivariate regression analysis, the percentage changes in microalbuminuria, body mass index, and systolic BP were the only significant predictors of the decrease in LVMI.

Conclusions Increased LVMI can be seen in children and adolescents with BP elevation and it is an easily assessed target organ damage of hypertension. It appears that male, obese hypertensive children and adolescents are more prone to severe LVH. The recognition of early cardiac structure alterations and initiation of pharmacological treatment could help to reduce hypertension-induced consequences later in life. Moreover, monitoring changes in LVMI during antihypertensive treatment can offer valuable information about the success of the treatment itself. Better BP assessment, using ABP monitoring when indicated, may contribute to a more successful approach to reduce cardiovascular risk.

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43. Daniels SR, Loggie JM, Khoury P, Kimball TR. Left ventricular geometry and severe left ventricular hypertrophy in children and adolescents with essential hypertension.

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44. Sorof JM, Cardwell G, Franco K, Portman RJ. Ambulatory blood pressure and left ventricular mass index in hypertensive children. Hypertension 2002;39:903-908.

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48. McNiece KL, Gupta-Malhotra M, Samuels J, Bell C, Garcia K, Poffenbarger T, et al; Left ventricular hypertrophy in hypertensive adolescents: analysis of risk by 2004 National High Blood Pressure Education Program Working Group staging criteria. Hypertension. 2007;50:392-395.

49. Stabouli S, Kotsis V, Karagianni C, Toumanidis S, Zakopoulos N, Constantopoulos A. Left ventricular mass index in hypertensive children and adolescents [Abstract].

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51. Kotsis V, Stabouli S, Pitiriga V, Toumanidis S, Papamichael C, Zakopoulos N. Ambulatory blood pressure monitoring and target organ damage: effects of age and sex. Blood Press Monit 2006;11:9-15.

52. Sorof JM, Turner J, Martin DS, Garcia K, Garami Z, Alexandrov AV, et al. Cardiovascular risk factors and sequelae in hypertensive children identified by referral versus school-based screening. Hypertension 2004;43:214-218.

53. Brilla CG. Regression of myocardial fibrosis in hypertensive heart disease: diverse effects of various antihypertensive drugs. Cardiovasc Res 2000;46:324-331.

54. Liebson PR, Grandits GA, Dianzumba S, Prineas RJ, Grimm RH Jr, Neaton JD, et al. Comparison of five antihypertensive monotherapies and placebo for change in left ventricular mass in patients receiving nutritional-hygienic therapy in the Treatment of Mild Hypertension Study (TOMHS). Circulation 1995;91:698-706.

55. Seeman T, Gil›k J, Vondraãk K, Simkovaã E, Flögelovaã H, Hlad›kovaã M, et al. Regression of left-ventricular hypertrophy in children and adolescents with hypertension during ramipril monotherapy. Am J Hypertens 2007;20:990-996.

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¶·È‰È·ÙÚÈ΋ 2008;71:186-191

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∞¡∞™∫√¶∏™∏

REVIEW ARTICLE

ªÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›· ∞’ ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋, µÂÓÈ˙¤ÏÂÈÔ-¶·Ó¿ÓÂÈÔ °ÂÓÈÎfi ¡ÔÛÔÎÔÌÂ›Ô ∏Ú·ÎÏ›Ԣ AÏÏËÏÔÁÚ·Ê›·: °ÂÒÚÁÈÔ˜ ¡ÈˆÙ¿Î˘ niotakisg@yahoo.gr ∞’ ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋, µÂÓÈ˙¤ÏÂÈÔ – ¶·Ó¿ÓÂÈÔ °ÂÓÈÎfi ¡ÔÛÔÎÔÌÂ›Ô ∏Ú·ÎÏ›Ԣ

°. ¡ÈˆÙ¿Î˘, °. µÏ·¯¿ÎË, ∂. ∫fiÎÎÔÚË ¶ÂÚ›ÏË„Ë: ∏ ÌÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›· ·Ó·Ê¤ÚÂÙ·È ÛÙËÓ ˘¤ÚÌÂÙÚË ÔÍ›‰ˆÛË ÙÔ˘ ‰ÈÛıÂÓÔ‡˜ Ûȉ‹ÚÔ˘ Û ÙÚÈÛıÂÓ‹ ̤۷ ÛÙÔ ÌfiÚÈÔ Ù˘ ·ÈÌÔÛÊ·ÈÚ›Ó˘, Ë ÔÔ›· Ì ·˘Ùfi ÙÔÓ ÙÚfiÔ ¯¿ÓÂÈ ÙËÓ ÈηÓfiÙËÙ· ÌÂÙ·ÊÔÚ¿˜ ÙÔ˘ Ô͢ÁfiÓÔ˘ ÛÙÔ˘˜ ÈÛÙÔ‡˜. ∫ÏÈÓÈο ÂΉËÏÒÓÂÙ·È Ì ΢¿ÓˆÛË. ∏ Û‡ÓıÂÛË Ù˘ ÌÂı·ÈÌÔÛÊ·ÈÚ›Ó˘ ·˘Í¿ÓÂÈ Û ÛËÌ·ÓÙÈÎfi ‚·ıÌfi Û˘¯ÓfiÙÂÚ· ÛÂ Û˘Óı‹Î˜ ¤ÓÙÔÓÔ˘ ÔÍÂȉˆÙÈÎÔ‡ stress, ·ÚÔ˘Û›· ÙÔÍÈÎÒÓ, Ê·Ú̷΢ÙÈÎÒÓ, ¯ËÌÈÎÒÓ ‹ ‰È·ÙÚÔÊÈÎÒÓ ·Ú·ÁfiÓÙˆÓ ‹ Û·ÓÈfiÙÂÚ· ÛÂ Û˘ÁÁÂÓ‹ ·ÓÂ¿ÚÎÂÈ· ÙÔ˘ ·Ó·ÁˆÁÈÎÔ‡ ÂÓ˙˘ÌÈÎÔ‡ Û˘ÛÙ‹Ì·ÙÔ˜ Ù˘ ΢Ùfi¯ÚˆÌ·-b5-·Ó·ÁˆÁ¿Û˘ ‹ Û ·ÚÔ˘Û›· ÎÏËÚÔÓÔÌÈ΋˜, ÌÂÙ·ÏÏ·Á̤Ó˘, ·ÓıÂÎÙÈ΋˜ ÛÙËÓ ÔÍ›‰ˆÛË, ·ÈÌÔÛÊ·ÈÚ›Ó˘. √È ÂÚÈÙÒÛÂȘ Ì ˘„ËÏ¿ Â›‰· ÌÂı·ÈÌÔÛÊ·ÈÚ›Ó˘ ¯ÚÂÈ¿˙ÔÓÙ·È ¿ÌÂÛË ıÂÚ·›·, ÁÈ·Ù› ÌÔÚ› Ó· ·Ô‚Ô‡Ó ı·Ó·ÙËÊfiÚ˜. ªÂÁ¿ÏË ÚÔÛÔ¯‹ ¯ÚÂÈ¿˙ÂÙ·È ÛÙË ‰È·ÁÓˆÛÙÈ΋ ÚÔÛ¤ÁÁÈÛË ÙˆÓ ·ÛıÂÓÒÓ ·˘ÙÒÓ, ÏfiÁˆ Ù˘ ΢·ÓˆÙÈ΋˜ ÂÌÊ¿ÓÈÛ˘ Î·È ÙˆÓ ÌË ÂȉÈÎÒÓ ÂÚÁ·ÛÙËÚÈ·ÎÒÓ ÂÍÂÙ¿ÛˆÓ, Ô˘ ÌÔÚ› Ó· Ô‰ËÁ‹ÛÔ˘Ó Û ÂÛÊ·Ï̤Ó˜ ‰È·ÁÓÒÛÂȘ. ¡¤· ‰È·ÁÓˆÛÙÈο ̤۷, ‚·ÛÈṲ̂ӷ ÛÙȘ Ê·ÛÌ·ÙÔÌÂÙÚÈΤ˜ ȉÈfiÙËÙ˜ Ù˘ ÌÂı·ÈÌÔÛÊ·ÈÚ›Ó˘, ˘fiÛ¯ÔÓÙ·È ·ÛÊ·Ï‹ ‰È¿ÁÓˆÛË. ™‡Á¯ÚÔÓ˜ ̤ıÔ‰ÔÈ ÌÔÚȷ΋˜ ÁÂÓÂÙÈ΋˜ ·Ó¿Ï˘Û˘ Û˘Ì‚¿ÏÏÔ˘Ó ·ÔÙÂÏÂÛÌ·ÙÈο ÛÙËÓ Î·Ù·ÓfiËÛË ÙˆÓ Û˘ÁÁÂÓÒÓ ÌÔÚÊÒÓ Î·È ÛÙËÓ ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË. ∆Ô ·ÓÙ›‰ÔÙÔ ÚÒÙ˘ ÁÚ·ÌÌ‹˜ Â›Ó·È ÙÔ ÌÏ ÙÔ˘ ÌÂı˘ÏÂÓ›Ô˘, ÙÔ ÔÔ›Ô fï˜ ·ÓÙÂӉ›ÎÓ˘Ù·È Û ÂÚÈÙÒÛÂȘ ·ÓÂ¿ÚÎÂÈ·˜ Ù˘ ÁÏ˘Îfi˙Ë-6-ʈÛÊÔÚÈ΋˜-‰Â¸‰ÚÔÁÔÓ¿Û˘. §¤ÍÂȘ ÎÏÂȉȿ: ªÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›·, ·ÈÌÔÛÊ·ÈÚ›ÓË, ΢Ùfi¯ÚˆÌ·-b5-·Ó·ÁˆÁ¿ÛË, ÌÏ ÙÔ˘ ÌÂı˘ÏÂÓ›Ô˘, NADP·Ó·ÁˆÁ¿ÛË.

Methaemoglobinaemia 1st Department of Paediatrics, VenizeleioPananeio General Hospital of Heraklion Correspondence: Georgios Niotakis niotakisg@yahoo.gr 1st Department of Paediatrics, VenizeleioPananeio General Hospital of Heraklion

G. Niotakis, G. Vlahaki, H. Kokkori Abstract: Methaemoglobinaemia refers to the excessive oxidation of ferrous iron to the ferric state within the haemoglobin molecule. This reaction impairs the capacity of haemoglobin for oxygen transportation to the peripheral tissues. Cyanosis is its major clinical sign. Methaemoglobin formation increases most commonly due to the oxidative stress produced by certain toxic drugs, other chemicals or dietary products, or, infrequently due to congenital deficiency of the reduction enzymic system of cytochrome-b5-reductase or hereditary types of reduction resisting haemoglobin (haemoglobin M). High levels of methaemoglobin may be life threatening, and require immediate intervention. The cyanotic presentation and the non-specific diagnostic tests may easily confuse the diagnosis. New diagnostic devices based on the spectrophotometric characteristics of methaemoglobin are available for direct and accurate diagnosis. Molecular genetic analysis provides functional insight into the congenital/hereditary types. Prenatal diagnosis offers important information in families affected with the severe types of the disease. Methylene blue is the antidote of choice, although it is contraindicated in G6PD deficiency. New alternative antidotes are still under investigation.

Key words: Methaemoglobinaemia, haemoglobin, cytochrome-b5-reductase, methylene blue, NADPH-reductase.

™˘ÓÙÔÌÔÁڷʛ˜ MetHb ª∞∞ Hb cytb5r Hb M Fe++ Fe+++ ∂∞ G6PD SHb NAD FAD NADP

Paediatriki 2008;71:192-200

ªÂı·ÈÌÔÛÊ·ÈÚ›ÓË ªÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›· ∞ÈÌÔÛÊ·ÈÚ›ÓË ∫˘Ùfi¯ÚˆÌ·-b5-·Ó·ÁˆÁ¿ÛË ªÂÙ·ÏÏ·Á̤ÓË ÌÔÚÊ‹ ·ÈÌÔÛÊ·ÈÚ›Ó˘ ¢ÈÛıÂÓ‹˜ Û›‰ËÚÔ˜ ∆ÚÈÛıÂÓ‹˜ Û›‰ËÚÔ˜ ∂Ú˘ıÚfi ·ÈÌÔÛÊ·›ÚÈÔ °Ï˘Îfi˙Ë-6-ʈÛÊÔÚÈ΋ ‰Â¸‰ÚÔÁÔÓ¿ÛË £ÂÈÔ·ÈÌÔÛÊ·Ú›ÓË ¡ÈÎÔÙÈÓ¿ÌÈÓÔ-·‰¤ÓÈÓÔ ‰ÈÓÔ˘ÎÏÂÔÙ›‰ÈÔ ºÏ¿‚ÈÓÔ-·‰¤ÓÈÓÔ ‰ÈÓÔ˘ÎÏÂÔÙ›‰ÈÔ ºˆÛÊÔÚÈÎfi ÓÈÎÔÙÈÓ¿ÌÈÓÔ-·‰¤ÓÈÓÔ ‰ÈÓÔ˘ÎÏÂÔÙ›‰ÈÔ

ªª HbF ∞ºª

ªÏ ÙÔ˘ ÌÂı˘ÏÂÓ›Ô˘ ∂Ì‚Ú˘˚΋ ·ÈÌÔÛÊ·ÈÚ›ÓË ∞Ê·ÈÌ·ÍÔÌÂÙ¿ÁÁÈÛË

∂ÈÛ·ÁˆÁ‹ ∏ ·ÈÌÔÛÊ·ÈÚ›ÓË (Hb) ¤¯ÂÈ ˙ˆÙÈ΋ ÛËÌ·Û›·, ÏfiÁˆ Ù˘ ÌÔÓ·‰È΋˜ ÈηÓfiÙËÙ·˜ ÌÂÙ·ÊÔÚ¿˜ Ô͢ÁfiÓÔ˘. ∆Ô ÌfiÚÈÔ Ù˘ Hb ÂÌÂÚȤ¯ÂÈ ‰ÈÛıÂÓ‹ Û›‰ËÚÔ (Fe++) ÛÙÔ ÌfiÚÈÔ Ù˘ ·›Ì˘. ªÂ ÙËÓ ÔÍ›‰ˆÛË ÙÔ˘ Fe++ Û Fe+++ Û˘ÓÙ›ıÂÙ·È Ë ÌÂı·ÈÌÔÛÊ·ÈÚ›ÓË (MetHb). √ Fe+++ ‰ÂÓ Û˘Ó‰¤ÂÙ·È Ì ÙÔ Ô͢ÁfiÓÔ, ÁÈ’ ·˘Ùfi Ë MetHb ‰ÂÓ ÌÂٷʤÚÂÈ Ô͢ÁfiÓÔ. ∆· Ê˘ÛÈÔÏÔÁÈο Â›‰·

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Ù˘ MetHb ÛÙÔ ·›Ì· Â›Ó·È 0% ¤ˆ˜ 2% Ù˘ ÔÏÈ΋˜ Hb (1,2). ∆· ÂÚ˘ıÚ¿ ·ÈÌÔÛÊ·›ÚÈ· (∂∞) ÌÂٷʤÚÔ˘Ó Ô͢ÁfiÓÔ Û ˘„ËϤ˜ Û˘ÁÎÂÓÙÚÒÛÂȘ Î·È ÁÈ’ ·˘Ùfi Â›Ó·È ˘fi Û˘Ó¯‹ ¤ÎıÂÛË Û ÂχıÂÚ˜ Ú›˙˜ Ô͢ÁfiÓÔ˘. ∂ÈϤÔÓ, ÙÔ ·›Ì· ¯ÚËÛÈ̇ÂÈ ˆ˜ ÌÂÙ·ÊÔÚÈÎfi ̤ÛÔ ÔÍÂȉˆÙÈÎÒÓ ·Ú·ÁfiÓÙˆÓ ÌÂÙ¿ ÙËÓ ·ÔÚÚfiÊËÛ‹ ÙÔ˘˜ ·fi ÙÔ ¤ÓÙÂÚÔ, ÂÎı¤ÙÔÓÙ·˜ Ù· ∂∞ Û ÂÚ·ÈÙ¤Úˆ ÂӉ¯fiÌÂÓË ÔÍ›‰ˆÛË. ™Â Û˘Óı‹Î˜ ÔÍÂȉˆÙÈÎÔ‡ stress ·Ú·ÙËÚÂ›Ù·È ÔÍ›‰ˆÛË ÌÂÌÔÓˆÌ¤ÓˆÓ ˘ÔÔÌ¿‰ˆÓ Ù˘ Hb (˘¿Ú¯Ô˘Ó 4 ˘ÔÔÌ¿‰Â˜ ÛÙËÓ Hb: 2· Î·È 2‚ ‹ 2Á ‹ 2‰). ∆· ·Ú·Ì¤ÓÔÓÙ· ÌË ÔÍÂȉˆÌ¤Ó· ÙÌ‹Ì·Ù· ·˘ÙÒÓ ÙˆÓ Ó¤ˆÓ ÌÔÚ›ˆÓ ¤¯Ô˘Ó ˘„ËÏ‹ Û˘ÁÁ¤ÓÂÈ· Ì ÙÔ Ô͢ÁfiÓÔ, Ì ÙÔ ÔÔ›Ô Û˘Ó‰¤ÔÓÙ·È ÈÛ¯˘Ú¿ Î·È ÙÔ ·Ô‰›‰Ô˘Ó Û ÌÈÎÚfiÙÂÚÔ ‚·ıÌfi ÛÙÔ˘˜ ÈÛÙÔ‡˜ (ÌÂÙ·ÙfiÈÛË Ù˘ ηÌ‡Ï˘ ·Ô‰¤ÛÌ¢Û˘ Ô͢ÁfiÓÔ˘ ÚÔ˜ Ù· ·ÚÈÛÙÂÚ¿) (3,4). °È· ÙËÓ ÚÔÛÙ·Û›· ÙˆÓ ∂∞ ·fi ÔÍÂȉˆÙÈΤ˜ ·ÓÙȉڿÛÂȘ ˘¿Ú¯ÂÈ ÌÈ· ¢Ú›· ÔÈÎÈÏ›· ÂÓ‰ÔÁÂÓÒÓ ·Ó·ÁˆÁÈÎÒÓ ÂÓ˙˘ÌÈÎÒÓ Û˘ÛÙËÌ¿ÙˆÓ. ¶ÚÒÙÔ˜ Ô Dittrich ·Ú·Ù‹ÚËÛ fiÙÈ Ë ÌÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›· (ª∞∞) ‹Ù·Ó Ì›· ·Ó·ÛÙÚ¤„ÈÌË Î·Ù¿ÛÙ·ÛË. √ Gibson Î·È Ô Barcroft ‰È·›ÛÙˆÛ·Ó ÌÂȈ̤ÓË ·Ó·ÁˆÁÈ΋ ÈηÓfiÙËÙ· ÙˆÓ ∂∞ Û ·ÛıÂÓ›˜ Ì ÔÈÎÔÁÂÓ‹ ª∞∞. √È Scott Î·È Griffith ÂÚȤÁÚ·„·Ó ¤Ó· NAD-Û˘Ó¤Ó˙˘ÌÔ ˆ˜ ·Ó·ÁˆÁÈÎfi ·Ú¿ÁÔÓÙ·, ÂÓÒ ÔÈ Hultquist Î·È Passon ÚÔÛ‰ÈfiÚÈÛ·Ó ÙËÓ Î˘Ùfi¯ÚˆÌ·-b5-·Ó·ÁˆÁ¿ÛË ˆ˜ ··Ú·›ÙËÙË ÁÈ· ÙËÓ ·Ó·ÁˆÁ‹ Ù˘ MetHb (5). ™‹ÌÂÚ·, Ë ÁÂÓÂÙÈ΋ ·Ó¿Ï˘ÛË ÚÔÛʤÚÂÈ ÔÏϤ˜ ÏËÚÔÊÔڛ˜ ÁÈ· ÙË ÏÂÈÙÔ˘ÚÁ›· ÙÔ˘ ÂÓ˙‡ÌÔ˘ ·˘ÙÔ‡.

∞ÈÙÈÔÏÔÁ›· ªÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›· Û˘Ì‚·›ÓÂÈ fiÙ·Ó: 1. Ô Ú˘ıÌfi˜ ÔÍ›‰ˆÛ˘ Ù˘ Hb ·˘Í¿ÓÂÙ·È ÛËÌ·ÓÙÈο ÒÛÙ ӷ ˘ÂÚÎÂÚ¿ÛÂÈ ÙËÓ ›‰È· ÚÔÛٷ٢ÙÈ΋ ·Ó·ÁˆÁÈ΋ ÈηÓfiÙËÙ· ÙˆÓ EA, 2. Ô Ú˘ıÌfi˜ ·Ó·ÁˆÁ‹˜ Ù˘ Hb ˘ÔÏ›ÂÙ·È, ·fi ·ÓÂ¿ÚÎÂÈ· ÙˆÓ ÂÓ‰ÔÁÂÓÒÓ ·Ó·ÁˆÁÈÎÒÓ Û˘ÛÙËÌ¿ÙˆÓ ‹ 3. Ë ‰ÔÌ‹ Ù˘ Hb ·ÏÏÔÈÒÓÂÙ·È Î·È Á›ÓÂÙ·È ·ÓıÂÎÙÈ΋ ÛÙËÓ ·Ó·ÁˆÁ‹ (6). ∞Ó¿ÏÔÁ·, ηıÔÚ›˙ÔÓÙ·È Î·È ÔÈ Ù‡ÔÈ Ù˘ ª∞∞ Û Â›ÎÙËÙË ª∞∞ Î·È Û˘ÁÁÂÓ‹/ÎÏËÚÔÓÔÌÈ΋ ª∞∞ ·fi ·ÓÂ¿ÚÎÂÈ· Ù˘ ·Ó·ÁˆÁ¿Û˘ ÙÔ˘ ΢ÙÔ¯ÚÒÌ·ÙÔ˜ b5 ‹ ÙÔ˘ ΢ÙÔ¯ÚÒÌ·ÙÔ˜ b5 ‹ ·fi ÌÂÙ·ÏÏ·Á̤ÓË ·ÈÌÔÛÊ·ÈÚ›ÓË ª (7). ∂›ÎÙËÙË ª∞∞ ∏ ÈÔ Û˘¯Ó‹ ·ÈÙÈÔÏÔÁ›· Ù˘ ª∞∞ Â›Ó·È Ë Â›ÎÙËÙË ·fi ÙË ‚ÚÒÛË ‹ ÙËÓ ¤ÎıÂÛË ÙÔ˘ ‰¤ÚÌ·ÙÔ˜ ‹ ÙˆÓ ‚ÏÂÓÓÔÁfiÓˆÓ Û οÔÈÔÓ ÔÍÂȉˆÙÈÎfi ·Ú¿ÁÔÓÙ·. √ Ú˘ıÌfi˜ Û¯ËÌ·ÙÈÛÌÔ‡ MetHb ÌÔÚ› Ó· ·˘ÍËı› ̤-

¶›Ó·Î·˜ 1. º·Ú̷΢ÙÈΤ˜ Î·È ¯ËÌÈΤ˜ Ô˘Û›Â˜ Ô˘ ÌÔÚ› Ó· ÚÔηϤÛÔ˘Ó MAA ∞ÎÂÙ·ÌÈÓÔÊ·›ÓË ∞ÓÈÏ›ÓË µ·ÏÚÔ˚Îfi ¡¿ÙÚÈÔ µÂÓ˙Ôη˝ÓË µÂÓ˙fiÏ˘ ·Ú¿ÁˆÁ· ¢·„fiÓË πÊÔÛÊ·Ì›‰Ë ∫·Ófi˜ ÂÈÛÓÂfiÌÂÓÔ˜ ∫˘ÎÏÔʈÛÊ·Ì›‰Ë §È‰Ôη˝ÓË ªÂı·ÓfiÏË ªÂÙÔÎÏÔÚ·Ì›‰Ë ªÏ ÙÔ˘ ªÂı˘ÏÂÓ›Ô˘ ¡·Êı·Ï›ÓË ¡ÈÙÚÈο ¡ÈÙÚÈÎfi˜ ÕÚÁ˘ÚÔ˜ ¡ÈÙÚÔÁÏ˘ÎÂÚ›ÓË ¡ÈÙÚÔÚˆÛÛÈÎfi ¡¿ÙÚÈÔ ¡ÈÙÚÔÊÔ˘Ú¿ÓÈÔ ¡ÈÙÚÒ‰Ë

¶·Ú·ÎÔ˘¿Ù ¶ÚÈÏÔη˝ÓË ¶ÚÈ̷ΛÓË ƒÈÏÔ˘˙fiÏË ƒÈÊ·ÌÈΛÓË ™ÂÏÂÎÔÍ›ÌË ™Ô˘ÏÊ·Û·Ï·˙›ÓË ™Ô˘ÏÊÔÓ·Ì›‰Â˜ À‰ÚÔÍ˘Ï·Ì›ÓË ∆ÚÈÌÂıÔÚ›Ì˙ԢÏÊ·ÌÂıÔÍ·˙fiÏË º·ÈÓ·˙Ô˘Úȉ›ÓË º·ÈÓ·ÎÂÙ›ÓË º·ÈÓ˘ÙÔ˝ÓË º·ÈÓfiÏË Ã·ÏÎfi˜ ¢ÈÛıÂÓ‹˜ ÃψÚÈο ¿Ï·Ù· ÃψÚÔΛÓË ÃÚˆÌÈο ¿Ï·Ù·

¯ÚÈ Î·È 1.000 ÊÔÚ¤˜, ÍÂÂÚÓÒÓÙ·˜ ÙËÓ ÈηÓfiÙËÙ· ÙˆÓ ÚÔÛٷ٢ÙÈÎÒÓ ·Ó·ÁˆÁÈÎÒÓ Û˘ÛÙËÌ¿ÙˆÓ (1). √È ÔÍÂȉˆÙÈÎÔ› ·Ú¿ÁÔÓÙ˜ ‰È·ÎÚ›ÓÔÓÙ·È Û ·˘ÙÔ‡˜ Ô˘ ÔÍÂȉÒÓÔ˘Ó ¿ÌÂÛ· ÙËÓ Hb Î·È Û¯ËÌ·Ù›˙ÂÙ·È Ë MetHb Î·È Û ·˘ÙÔ‡˜ Ô˘ ÙËÓ ÔÍÂȉÒÓÔ˘Ó ¤ÌÌÂÛ·, ·Ó¿ÁÔÓÙ·˜ ÙÔ Ô͢ÁfiÓÔ ‹ ÙÔ ÓÂÚfi Û ÂχıÂÚË Ú›˙· √2- ‹ ∏2√2, ·ÓÙ›ÛÙÔȯ·, Ù· ÔÔ›· Ì ÙË ÛÂÈÚ¿ ÙÔ˘˜ ·Ó¿ÁÔ˘Ó ÙËÓ Hb Û MetHb (7). ¢È¿ÊÔÚ· Ê¿Ú̷η ÌÔÚ› Ó· ÚÔηϤÛÔ˘Ó ª∞∞, Û˘¯ÓfiÙÂÚ· ·fi Ù· ÔÔ›· Â›Ó·È Ë ‰·„fiÓË, ÔÈ ÛÔ˘ÏÊÔÓ·Ì›‰Â˜, Ù· ·Ó·ÈÛıËÙÈο, Ë Ê·ÈÓ·ÎÂÙ›ÓË Î·È Ù· ·ÓıÂÏÔÓÔÛȷο (¶›Ó·Î·˜ 1) (2,5). ∏ ‰·„fiÓË, ¯ÔÚËÁÔ‡ÌÂÓË ÛÙ· Ï¿ÈÛÈ· ¯ËÌÂÈÔÚÔʇϷ͢ ·fi pneumocystis carinii Û ·ÓÔÛÔηÙÂÛÙ·Ï̤ÓÔ˘˜ ·ÛıÂÓ›˜, ¤¯ÂÈ Û˘Ó‰Âı› Ì ÂÚÈÙÒÛÂȘ ª∞∞ (8). ª∞∞ ÂÚÈÁÚ¿ÊÂÙ·È, Â›Û˘, Û ¯Ú‹ÛÙ˜ ÎÔη˝Ó˘, ÌÂÙ¿ ÙË ÓfiıÂ˘Û‹ Ù˘ Ì ‚ÂÓ˙Ôη˝ÓË (5). ∆· ·Ó·ÈÛıËÙÈο, fiˆ˜ Ë ÚÈÏÔη˝ÓË Î·È Ë ‚ÂÓ˙Ôη˝ÓË, Ô˘ ¯ÚËÛÈÌÔÔÈÔ‡ÓÙ·È ÛÙËÓ Ô‰ÔÓÙÈ·ÙÚÈ΋ (2), ÙȘ ÂÓ‰ÔÛÎÔ‹ÛÂȘ (9), ÙËÓ ÂÚÈÊÂÚÈ΋, ÂÚÈÔ¯È΋ ·Ó·ÈÛıËÛ›· (10), ·ÎfiÌ· Î·È Ì ÌÔÚÊ‹ ÙÔÈÎÒÓ ˆÙÈÎÒÓ ÛÙ·ÁfiÓˆÓ (11), ¤¯Ô˘Ó ÂÓÔ¯ÔÔÈËı› ·ÎfiÌ· Î·È ÁÈ· ı·Ó·ÙËÊfiÚ· ª∞∞. ∆· ‚È‚ÏÈÔÁÚ·ÊÈο ‰Â‰Ô̤ӷ ÁÈ· ÙË Û˘Û¯¤ÙÈÛË Ù˘ ª∞∞ Ì ÙËÓ ÙÔÈ΋ ÂÊ·ÚÌÔÁ‹ Îڤ̷˜ ÏȉÔη˝Ó˘-ÚÈÏÔη˝Ó˘ (EMLA) Û ÓÂÔÁÓ¿ Î·È ÌÈÎÚ¿ ‚Ú¤ÊË ÚÈÓ ·fi ÌÈÎÚÔÂÂÌ‚·ÙÈÎÔ‡˜ ¯ÂÈÚÈÛÌÔ‡˜ Â›Ó·È ·ÓÙÈÎÚÔ˘fiÌÂÓ· (12). ∏ ‰Â‡ÙÂÚË ÛÂ Û˘¯ÓfiÙËÙ· ·ÈÙ›· Â›ÎÙËÙ˘ MetHb Â›Ó·È È‰ÈÔ·ı‹˜ Î·È Û˘Û¯ÂÙ›˙ÂÙ·È Ì ÌÂÙ·‚ÔÏÈ΋ ÔͤˆÛË. À¿Ú¯Ô˘Ó ÛÙÔȯ›· Ô˘ ‰Â›¯ÓÔ˘Ó fiÙÈ Ë ÂÓ‰ÔÁÂÓ‹˜ ·Ó·ÁˆÁ‹ Ù˘ MetHb ·Ó·ÛÙ¤ÏÏÂÙ·È ·fi fiÍÈÓÔ pH Î·È ÂÓÈÛ¯‡ÂÙ·È ·fi ·ÏηÏÈÎfi (3). ∂˘ÎÔÏfiÙÂÚ· ÚÔÛ‚¿ÏÏÔÓÙ·È Ù· ÌÈÎÚfiÙÂÚ· ÙˆÓ ¤ÍÈ ÌËÓÒÓ ‚Ú¤ÊË, ÛÙ· ¶·È‰È·ÙÚÈ΋ 2008;71:192-200

Pediatri May-Jun 08

23-05-08

15:57

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°. ¡ÈˆÙ¿Î˘ Î·È Û˘Ó.

Ï·›ÛÈ· ‰È·ÚÚÔ˚ÎÒÓ Û˘Ó‰ÚfïÓ. ¶·Ú¿ÁÔÓÙ˜ Ô˘ Úԉȷı¤ÙÔ˘Ó ÙËÓ ÂÌÊ¿ÓÈÛË ª∞∞ ÛÙ· ÌÈÎÚ¿ ‚Ú¤ÊË Â›Ó·È Ù· ¯·ÌËÏ¿ Â›‰· Ù˘ ΢Ùfi¯ÚˆÌ·-b5-·Ó·ÁˆÁ¿Û˘ ÙˆÓ ∂∞ (50-60% ÙˆÓ ÂÓËϛΈÓ), Ë Â˘ÎÔÏfiÙÂÚË ÔÍ›‰ˆÛË Ù˘ ÂÌ‚Ú˘˚΋˜ Hb (HbF) Î·È Ë ·˘ÍË̤ÓË ÌÂÙ·ÙÚÔ‹ ÙˆÓ ÓÈÙÚÈÎÒÓ Ù˘ ÙÚÔÊ‹˜ Û ÓÈÙÚÒ‰Ë, Ô˘ ‰È¢ÎÔχÓÂÙ·È ·fi ÙËÓ ·Ó¿Ù˘ÍË Ù˘ gram (-) ‚·ÎÙËÚȷ΋˜ ¯ÏˆÚ›‰·˜ ÛÙÔ ˘„ËÏfi Á·ÛÙÚÈÎfi pH (2). ª∞∞ ÂÚÈÁÚ¿ÊÂÙ·È Â›Û˘ Û ‚Ú¤ÊË ¿Û¯ÔÓÙ· ›Ù ·fi ‰È¿ÚÚÔÈ·, ÏfiÁˆ ·ÏÏÂÚÁ›·˜ ÛÙÔ Á¿Ï· ·ÁÂÏ¿‰·˜ (13), ›Ù ·fi ÓÂÊÚÈ΋ ÛˆÏËÓ·Úȷ΋ ÔͤˆÛË (14). ∆· ÓÈÙÚÈο ¿Ï·Ù· Û˘Û¯ÂÙ›˙ÔÓÙ·È Â˘Ú¤ˆ˜ Ì ÙË ª∞∞. ∏ Û˘Û¯¤ÙÈÛ‹ ÙÔ˘˜ Ì ÙËÓ ÂÌÊ¿ÓÈÛË ª∞∞ Û ‚Ú¤ÊË Â›Ó·È ÁÓˆÛÙ‹ ˆ˜ “blue baby syndrome” (15). ∞Ó¢ڛÛÎÔÓÙ·È ÛÙÔ fiÛÈÌÔ ÓÂÚfi ·ÁÚÔÙÈÎÒÓ ÂÚÈÔ¯ÒÓ, ÏfiÁˆ ÙˆÓ ÏÈ·ÛÌ¿ÙˆÓ, (16), Û ÙÚÔʤ˜ ˆ˜ Û˘ÓÙËÚËÙÈο (17) ‹ ˆ˜ Û˘ÛÙ·ÙÈο ·ÓÙȉfiÙˆÓ Û Â›ÁÔ˘Û˜ È·ÙÚÈΤ˜ ηٷÛÙ¿ÛÂȘ, fiˆ˜ ÛÙË ‰ËÏËÙËÚ›·ÛË ·fi ΢·ÓÈÔ‡¯· (18). ∂ÓÙÔ‡ÙÔȘ, ˘¿Ú¯Ô˘Ó ·ÓÙÈÎÚÔ˘fiÌÂÓ˜ ·Ó·ÊÔÚ¤˜ Û¯ÂÙÈο Ì ÙËÓ ·ÈÙÈÔÏÔÁÈ΋ Û‡Ó‰ÂÛË ÙˆÓ ÓÈÙÚÈÎÒÓ Ì ÙË ª∞∞ (19), ÂÓÒ ÂÓÔ¯ÔÔÈÂ›Ù·È ˆ˜ ÂÎÏ˘ÙÈÎfi ·›ÙÈÔ Ë ˘ÔΛÌÂÓË Á·ÛÙÚÂÓÙÂÚÈ΋ ÊÏÂÁÌÔÓ‹, Ô˘ Úԉȷı¤ÙÂÈ ÙË ÌÂÙ·ÙÚÔ‹ ÙˆÓ ÓÈÙÚÈÎÒÓ Ù˘ ÙÚÔÊ‹˜ Û ÓÈÙÚÒ‰Ë (20). ™Â ÌÂÁ·Ï‡ÙÂÚ· ·È‰È¿, Ë Èı·ÓfiÙÂÚË ·ÈÙ›· Â›Ó·È Ë ‰ËÏËÙËÚ›·ÛË ·fi Ï‹„Ë Î¿ÔÈ·˜ ÔÍÂȉˆÙÈ΋˜ Ô˘Û›·˜, fiˆ˜ Ù· ÓÈÙÚÔ·ÏοÓÈ·, Ô˘ ÂÌÂÚȤ¯ÔÓÙ·È Û ‰È·Ï˘ÙÈο ‚·ÊÒÓ, ÂÓÒ Û ÂÊ‹‚Ô˘˜ Î·È ÂÓ‹ÏÈΘ Ë ÂÈÛÓÔ‹ ÙËÙÈÎÒÓ ÓÈÙÚÈÎÒÓ Â˘ı‡ÓÂÙ·È Â›Û˘ ÁÈ· ª∞∞ (1). ∆Ô ÔÍ›‰ÈÔ ÙÔ˘ ·˙ÒÙÔ˘, Ô˘ ·ÂÏ¢ıÂÚÒÓÂÙ·È Û ÛËÙÈÎÔ‡˜ ·ÛıÂÓ›˜, ÌÂÙ·ÙÚ¤ÂÙ·È Û ÓÈÙÚÈο Î·È MetHb (2). ∏ ª∞∞ ·Ó·Ê¤ÚÂÙ·È, Â›Û˘, ˆ˜ ·ÚÂÓ¤ÚÁÂÈ· ÙÔ˘ ¯ÔÚËÁÔ‡ÌÂÓÔ˘ ÔÍÂȉ›Ô˘ ÙÔ˘ ·˙ÒÙÔ˘ Û ÂÚÈÙÒÛÂȘ ·Ú·Ì¤ÓÔ˘Û·˜ Ó¢ÌÔÓÈ΋˜ ˘¤ÚÙ·Û˘ ÙˆÓ ÓÂÔÁÓÒÓ (21). ™˘ÁÁÂÓ‹˜ ‹ ÎÏËÚÔÓÔÌÈ΋ ª∞∞ √È Û˘ÁÁÂÓ›˜ ‹ ÎÏËÚÔÓÔÌÈΤ˜ ÌÔÚʤ˜ ª∞∞ ÌÔÚ› Ó· ‰È·ÎÚÈıÔ‡Ó Û ‰‡Ô ηÙËÁÔڛ˜, ÙËÓ ÂÓ˙˘ÌÈ΋ ·ÓÂ¿ÚÎÂÈ· Ù˘ ΢Ùfi¯ÚˆÌ·-b5-·Ó·ÁˆÁ¿Û˘ Î·È ÙȘ ÌÂÙ·ÏÏ·Á̤Ó˜ (mutant) ÌÔÚʤ˜ Ù˘ Hb (HbM), ÂÓÒ ÚfiÎÂÈÙ·È ÁÈ· Û¿ÓȘ ÌÔÚʤ˜. √È ·ÛıÂÓ›˜ ·˘ÙÔ› ÂÌÊ·Ó›˙Ô˘Ó Î˘¿ÓˆÛË Î·Ù¿ ÙË Á¤ÓÓËÛË ‹ Ï›ÁÔ ·ÚÁfiÙÂÚ·. ∆Ô ÂÓ˙˘ÌÈÎfi Û‡ÛÙËÌ· Ù˘ ΢Ùfi¯ÚˆÌ·-b5-·Ó·ÁˆÁ¿Û˘ (cytb5r) ¢ı‡ÓÂÙ·È ÁÈ· ÙÔ 99% Ù˘ ËÌÂÚ‹ÛÈ·˜ ·Ó·ÁˆÁ‹˜ Ù˘ MetHb. ∆Ô ¤Ó˙˘ÌÔ Î·Ù·Ï‡ÂÈ ÙË ÌÂÙ·ÊÔÚ¿ ËÏÂÎÙÚÔÓ›ˆÓ ·fi ÙÔ ÓÈÎÔÙÈÓ¿ÌÈÓÔ-·‰¤ÓÈÓÔ ‰ÈÓÔ˘ÎÏÂÔÙ›‰ÈÔ (NADH) ÛÙÔ Î˘Ùfi¯ÚˆÌ· b5 Î·È ÌÂÙ¿ ÛÙË MetHb, fiˆ˜ Ê·›ÓÂÙ·È ·Ú·Î¿Ùˆ: NADH + (Ox) cyto b5 (Fe+++) → NAD + (R ) cyto b5 (Fe++) Paediatriki 2008;71:192-200

(R) cyto b5 (Fe++) + ªetHb (Fe+++) → (Ox) cyto b5 (Fe+++) + Hb (Fe++). ∏ cytb5r ·ÔÙÂÏÂ›Ù·È ·fi ‰‡Ô ÏÂÈÙÔ˘ÚÁÈΤ˜ ˘ÔÌÔÓ¿‰Â˜, Ì›· FAD-Û˘Ó‰Â‰Â̤ÓË Î·È Ì›· NADH-Û˘Ó‰Â‰Â̤ÓË, Ô˘ ÂÓÒÓÔÓÙ·È ÌÂٷ͇ ÙÔ˘˜ ̤ۈ ÂÓfi˜ ¿ÍÔÓ· (“hinge” ‹ “linker”). ∆Ô ¤Ó˙˘ÌÔ ·˘Ùfi ˘¿Ú¯ÂÈ Û ‰‡Ô ÌÔÚʤ˜, ÙË ‰È·Ï˘Ù‹, Ô˘ ‚Ú›ÛÎÂÙ·È Û¯Â‰fiÓ ·ÔÎÏÂÈÛÙÈο ÛÙ· ∂∞ Î·È Î·Ù·Ï‡ÂÈ ÙËÓ ·Ó·ÁˆÁ‹ Ù˘ ªetHb, Î·È ÙË ÌË ‰È·Ï˘Ù‹ ‹ Û˘Ó‰Â‰Â̤ÓË Ì ÙÔ ÂÓ‰ÔÏ·ÛÌ·ÙÈÎfi ‰›ÎÙ˘Ô, Ô˘ ·ÓȯÓ‡ÂÙ·È Û¯Â‰fiÓ Û fiÏÔ˘˜ ÙÔ˘˜ ÈÛÙÔ‡˜ Î·È Û˘ÌÌÂÙ¤¯ÂÈ Û ÌÈ· ÛÂÈÚ¿ Ê˘ÛÈÔÏÔÁÈÎÒÓ ÌÂÙ·‚ÔÏÈÎÒÓ ‰ÈÂÚÁ·ÛÈÒÓ, fiˆ˜ ÙËÓ ÂÈÌ‹Î˘ÓÛË ÙˆÓ ·Ï‡ÛˆÓ ÙˆÓ ÏÈ·ÚÒÓ ÔͤˆÓ, ÙË Û‡ÓıÂÛË ¯ÔÏËÛÙÂÚfiÏ˘ Î·È ÙÔ ÌÂÙ·‚ÔÏÈÛÌfi Ê·ÚÌ¿ÎˆÓ (7). ∆· Â›‰¿ Ù˘ ÛÙËÓ ÚÒÙË ‚ÚÂÊÈ΋ ËÏÈΛ· ·ÓÙÈÛÙÔÈ¯Ô‡Ó ÛÙÔ 50% ÙˆÓ ÂÓËϛΈÓ. ∏ ‰Ú·ÛÙÈÎfiÙËÙ¿ Ù˘ Êı›ÓÂÈ ÛÙ·‰È·Î¿ ηıÒ˜ “ÁÂÚÓ¿ÂÈ” ÙÔ ∂∞ (5). ∏ Û‡ÓıÂÛ‹ Ù˘ Έ‰ÈÎÔÔÈÂ›Ù·È ·fi ÙÔ ÁÔÓ›‰ÈÔ DIA1, Ô˘ ‰ڿ˙ÂÙ·È ÛÙÔ 22q13qter ¯ÚˆÌfiۈ̷. Œˆ˜ Û‹ÌÂÚ· ¤¯Ô˘Ó ÚÔÛ‰ÈÔÚÈÛÙ› 42 ÌÂÙ·ÏÏ¿ÍÂȘ ÛÙÔ ÁÔÓȉ›ˆÌ· (22), Ô˘ ·ÊÔÚÔ‡Ó Â›Ù ÙË FAD- ›Ù ÙË ¡AD∏-˘ÔÌÔÓ¿‰· ›Ù ÙÔ Û˘Ó‰ÂÙÈÎfi ¿ÍÔÓ¿ ÙÔ˘˜ (23). À¿Ú¯Ô˘Ó Ù¤ÛÛÂÚȘ Ù‡ÔÈ ÎÏËÚÔÓÔÌÈ΋˜ MetHb, Û¯ÂÙÈÎÔ› Ì ÙËÓ ·ÓÂ¿ÚÎÂÈ· Ù˘ cytb5r. ∫ÏËÚÔÓÔÌÔ‡ÓÙ·È fiÏÔÈ Ì ÙÔÓ ·˘ÙÔۈ̷ÙÈÎfi ˘ÔÏÂÈfiÌÂÓÔ ¯·Ú·ÎÙ‹Ú·. √È ÂÙÂÚÔ˙˘ÁÒÙ˜ ÌÔÚ› Ó· ¤¯Ô˘Ó ̤¯ÚÈ 50% Ù˘ ÂÓ˙˘ÌÈ΋˜ ‰Ú·ÛÙÈÎfiÙËÙ·˜ Î·È ÛÂ Ê˘ÛÈÔÏÔÁÈΤ˜ Û˘Óı‹Î˜ Â›Ó·È ·Û˘Ìو̷ÙÈÎÔ›, Ì ªetHb ÏÈÁfiÙÂÚË ·fi ÙÔ 1,5% Ù˘ ÔÏÈ΋˜ Hb. ¶·ÚÔ˘ÛÈ¿˙Ô˘Ó fï˜ ·˘ÍË̤ÓË ÚԉȿıÂÛË ÛÙËÓ ·Ó¿Ù˘ÍË ª∞∞ ·fi Â›‰Ú·ÛË ÔÍÂȉˆÙÈÎÒÓ ·Ú·ÁfiÓÙˆÓ Û ۯ¤ÛË Ì ÙÔÓ ˘fiÏÔÈÔ ÏËı˘ÛÌfi (7). ∏ ÓfiÛÔ˜ ‰Â ÌÔÚ› Ó· ÂΉËψı› Î·È ˆ˜ Û˘Ó‰˘·Ṳ̂ÓË ÂÙÂÚÔ˙˘ÁˆÙ›·, Ó· ·ÓȯÓ‡ÂÙ·È ‰ËÏ·‰‹ Ì›· ‰È·ÊÔÚÂÙÈ΋ ÌÂÙ¿ÏÏ·ÍË Û οı ·ÏÏ‹ÏÈÔ, ·ÓÙ› Ù˘ ›‰È·˜ Î·È ÛÙ· ‰‡Ô, fiˆ˜ Ô Û˘Ó‰˘·ÛÌfi˜ Arg160Ter Ì Asp240Gly, Ô˘ ÚÔηÏ› Ê·ÈÓfiÙ˘Ô Ù‡Ô˘ π, ‹ Ô Û˘Ó‰˘·ÛÌfi˜ Arg160Ter Ì Gln77Ter, Ô˘ ÚÔηÏ› Ê·ÈÓfiÙ˘Ô Ù‡Ô˘ πI (24). √ Ù‡Ô˜ π Â›Ó·È Ô ÈÔ Û˘¯Ófi˜. ∂˘ı‡ÓÂÙ·È ÁÈ· ÂÚÈÛÛfiÙÂÚÔ ·fi ÙÔ 80% ÙˆÓ ÂÚÈÙÒÛÂˆÓ Û˘ÁÁÂÓÔ‡˜ ª∞∞, Û¯ÂÙ›˙ÂÙ·È Ì ‚Ï¿‚Ë Ù˘ ‰È·Ï˘Ù‹˜ ÌÔÚÊ‹˜ ÙÔ˘ ÂÓ˙‡ÌÔ˘ cytb5r ÌfiÓÔ ÛÙ· ∂∞ Î·È ÔÈ ¿Û¯ÔÓÙ˜ ÂÌÊ·Ó›˙Ô˘Ó Î˘¿ÓˆÛË. ™Â ·˘Ùfi ÙÔÓ Ù‡Ô, ÙÔ ¤Ó˙˘ÌÔ ¯¿ÓÂÈ ÙË ÛÙÂÚÔ¯ËÌÈ΋ ÛÙ·ıÂÚfiÙËÙ¿ ÙÔ˘, ÂËÚ¿˙ÂÙ·È Ë Û‡Ó‰ÂÛ‹ ÙÔ˘ Ì ÙÔ NADH ˘fiÛÙڈ̷ Î·È Û˘ÓÂÒ˜ Î·È Ë Î·Ù·Ï˘ÙÈ΋ ‰Ú¿ÛË ÙÔ˘ (25). ™Ù· ·ÙÙ·Ú· Ô˘ ‰È·ı¤ÙÔ˘Ó ÈηÓfiÙËÙ· ÚˆÙÂ˚ÓÔÛ‡ÓıÂÛ˘, Ë ·ÛÙ·ı‹˜ ÌÔÚÊ‹ ·ÓÙÈηı›ÛÙ·Ù·È ·fi ÛÙ·ıÂÚ¿ ÌfiÚÈ·. ™Ù· ÒÚÈÌ·, ·‡ÚËÓ· ∂∞, Ë ·ÛÙ·ı‹˜ ÌÔÚÊ‹ ‰ÂÓ ·ÓÙÈηı›ÛÙ·Ù·È Î·È ‰ÂÓ ˘¿Ú¯ÂÈ ÈηÓfiÙËÙ· ·Ó·ÁˆÁ‹˜ Ù˘ MetHb (24). ∂Ó‰ÂÈÎÙÈΤ˜ ÌÂÙ·ÏÏ¿ÍÂȘ Â›Ó·È ÔÈ Gly143Asp (22) Î·È Gly75Ser (25).

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·195

195

ªÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›·

™ÙÔÓ Ù‡Ô ππ, Ë ·ÓÂ¿ÚÎÂÈ· Ù˘ cytb5r Â›Ó·È ÁÂÓÈÎÂ˘Ì¤ÓË. ∞ÊÔÚ¿ ¤ˆ˜ 15% ÙˆÓ ÂÚÈÙÒÛÂˆÓ Û˘ÁÁÂÓÔ‡˜ ª∞∞. ™Â ·˘Ùfi ÙÔÓ Ù‡Ô, ÙÔ ¤Ó˙˘ÌÔ ·‰Ú·ÓÔÔÈÂ›Ù·È Î·È ÛÙȘ ‰‡Ô ÌÔÚʤ˜, ‰È·Ï˘Ù‹ Î·È ÌË ‰È·Ï˘Ù‹, Û fiÏÔ˘˜ ÙÔ˘˜ ÈÛÙÔ‡˜ ÙÔ˘ ÛÒÌ·ÙÔ˜. ∫ÏÈÓÈο ÂΉËÏÒÓÂÙ·È Ì ‹È· ΢¿ÓˆÛË Î·È ÛÔ‚·Ú‹ Ó¢ÚÔÏÔÁÈ΋ Û˘Ó‰ÚÔÌ‹. Œ¯Ô˘Ó ·ÓȯÓ¢Ù› 16 ÌÂÙ·ÏÏ¿ÍÂȘ ¤ˆ˜ Û‹ÌÂÚ·. ∂Ó‰ÂÈÎÙÈΤ˜ ÌÂÙ·ÏÏ¿ÍÂȘ Â›Ó·È ÔÈ Cys204Arg, Met273Del Î·È Leu131Pro (24). √ Ù‡Ô˜ πππ ·ÊÔÚ¿ ·ÓÂ¿ÚÎÂÈ· Ù˘ cytb5r (5,6) ‹ ·ÓÂ¿ÚÎÂÈ· ÙÔ˘ ΢ÙÔ¯ÚÒÌ·ÙÔ˜ b5 (23). ∂ÓÙÔ›˙ÂÙ·È Î·È ÛÙȘ ÙÚÂȘ ·ÈÌ·ÙÔÏÔÁÈΤ˜ ÛÂÈÚ¤˜, ·ÏÏ¿ ÚÔÛ‚¿ÏÏÂÈ ÌfiÓÔ Ù· ∂∞ Î·È ÂΉËÏÒÓÂÙ·È Ì ΢¿ÓˆÛË. √ Ù‡Ô˜ IV ÔÊ›ÏÂÙ·È Â›Û˘ Û ·ÓÂ¿ÚÎÂÈ· ÙÔ˘ ΢ÙÔ¯ÚÒÌ·ÙÔ˜ b5, ÂÓÙÔ›˙ÂÙ·È ÌfiÓÔ ÛÙ· ∂∞ Î·È ÂΉËÏÒÓÂÙ·È ÌfiÓÔ Ì ΢¿ÓˆÛË (5,6). ™˘ÁÁÂÓ›˜ ·ÓÂ¿ÚÎÂȘ ¿ÏÏˆÓ ‰Â˘ÙÂÚ¢fiÓÙˆÓ ·Ó·ÁˆÁÈÎÒÓ ÂÓ˙˘ÌÈÎÒÓ Û˘ÛÙËÌ¿ÙˆÓ (·Ó·Á̤ÓË ÊÏ·‚›ÓË, ÙÂÙÚ·¸‰ÚÔÙÂÚ›ÓË, ΢ÛÙ·̛ÓË, ·Ó·Á̤ÓË Î˘ÛÙ½ÓË, ·Ó·Á̤ÓË ÁÏÔ˘Ù·ıÂÈfiÓË, ‰ÈÛÌÔ˘Ù¿ÛË ÙÔ˘ ÛÔ˘ÂÚÔÍÂȉ›Ô˘, ηٷϿÛË, ˘ÂÚÔÍÂȉ¿ÛË Ù˘ ÁÏÔ˘Ù·ıÂÈfiÓ˘), ·Ó Î·È ¤¯Ô˘Ó ÂÚÈÁÚ·Ê›, ‰ÂÓ Ê·›ÓÂÙ·È Ó· ÚÔηÏÔ‡Ó ª∞∞, Èı·ÓÒ˜ ÏfiÁˆ Ù˘ ˘ÂÚÂ¿ÚÎÂÈ·˜ Ù˘ cytb5r (3). Œ¯Ô˘Ó ÂÚÈÁÚ·Ê› ‰È¿ÊÔÚ˜ ÔÈÎÈϛ˜ ÌÂÙ·ÏÏ·ÁÌ¤ÓˆÓ ÌÔÚÊÒÓ Hb (Hb M) Ô˘ ÎÏËÚÔÓÔÌÔ‡ÓÙ·È Ì ·˘ÙÔۈ̷ÙÈÎfi ΢ڛ·Ú¯Ô ¯·Ú·ÎÙ‹Ú· (¶›Ó·Î·˜ 2). √È ÌÂÙ·ÏÏ¿ÍÂȘ ÚÔηÏÔ‡Ó ·ÓÙÈηٿÛÙ·ÛË Ù˘ ÈÛÙȉ›Ó˘, Û˘Ó‹ıˆ˜ ·fi Ù˘ÚÔÛ›ÓË, Î·È ‰È·ÌfiÚʈÛË ÙÔ˘ ÌÔÚ›Ô˘ Ù˘ ·›Ì˘, ÒÛÙÂ Ô Û›‰ËÚÔ˜ Ó· ÛÙ·ıÂÚÔÔÈÂ›Ù·È ÛÙËÓ ÔÍÂȉˆÌ¤ÓË ÌÔÚÊ‹ Î·È Ó· Â›Ó·È ·ÓıÂÎÙÈÎfi˜ ÛÙËÓ ·Ó·ÁˆÁ‹. √È ·ÛıÂÓ›˜ Ì Hb M Â›Ó·È Î˘·ÓˆÙÈÎÔ›, ¯ˆÚ›˜ ¿ÏÏ· Û˘ÌÙÒÌ·Ù·. ∂¿Ó Ë ÌÂÙ¿ÏÏ·ÍË ·ÊÔÚ¿ ÙËÓ · ˘ÔÔÌ¿‰·, Ë Î˘¿ÓˆÛË ÂÌÊ·Ó›˙ÂÙ·È Î·Ù¿ ÙË Á¤ÓÓËÛË, ÂÓÒ Â¿Ó ·ÊÔÚ¿ ÙË ‚ ˘ÔÔÌ¿‰·, Ë Î˘¿ÓˆÛË ÂÌÊ·Ó›˙ÂÙ·È ·ÚÁfiÙÂÚ· (4 ¤ˆ˜ 6 ÌËÓÒÓ), fiÙ·Ó ·˘Í¿ÓÂÙ·È Ë ·Ú·ÁˆÁ‹ Ù˘. ∞Ó¿ÏÔÁ·, fiÙ·Ó ¤Ó· ÓÂÔÁÓfi ʤÚÂÈ ÂÌ‚Ú˘˚΋ Hb ª (Hb FM-Osaka), Ë Î˘¿ÓˆÛ‹ ÙÔ˘ ÂÍ·Ê·Ó›˙ÂÙ·È Ì ÙË ÌÂÙ·ÙÚÔ‹ Ù˘ Á ˘ÔÔÌ¿‰·˜ Ù˘ Hb Û ‚ (2,7). ∞ÛıÂÓ›˜ Ì ·ÛÙ·ı›˜ ·ÈÌÔÛÊ·ÈÚ›Ó˜ ·ÚÔ˘ÛÈ¿˙Ô˘Ó ·˘ÍË̤ӷ Â›‰· MetHb (¶›Ó·Î·˜ 2). øÛÙfiÛÔ, Û ·˘Ù¤˜ ÙȘ ÂÚÈÙÒÛÂȘ ΢Úȷگ› Ë ·ÈÌfiÏ˘ÛË. ∏ ª∞∞ ÂÌÊ·Ó›˙ÂÙ·È ÌfiÓÔ fiÙ·Ó ÂÎÙÂı› Ô ·ÛıÂÓ‹˜ Û ÔÍÂȉˆÙÈÎÔ‡˜ ·Ú¿ÁÔÓÙ˜ (26,27).

∫ÏÈÓÈ΋ ÂÌÊ¿ÓÈÛË ∏ ‚·Ú‡ÙËÙ· ÙˆÓ Û˘ÌÙˆÌ¿ÙˆÓ ÂÍ·ÚÙ¿Ù·È ·fi Ù· Â›‰· Ù˘ MetHb Î·È ÙË ‰È¿ÚÎÂÈ· Ù˘ ª∞∞. ∆· Â›‰· ·Ó·Ê¤ÚÔÓÙ·È ˆ˜ ÙÔ Â› ÙÔȘ ÂηÙfi ÔÛÔÛÙfi (%) Ù˘ Û˘ÓÔÏÈ΋˜ Hb. ™˘ÁÎÂÎÚÈ̤Ó˜ ÙÈ̤˜ Ù˘ MetHb ÌÔÚ› Ó· Û¯ÂÙ›˙ÔÓÙ·È Ì ‰È·ÊÔÚÂÙÈο Û˘ÌÙÒÌ·Ù·. °È· ·Ú¿‰ÂÈÁÌ·, ¤Ó·˜ ·ÛıÂÓ‹˜ Ì ÔÛÔ-

¶›Ó·Î·˜ 2. ∆‡ÔÈ ÌÂÙ·ÏÏ·Á̤Ó˘ Hb (HbM) Î·È ·ÛÙ·ıÔ‡˜ Hb Ô˘ ÚÔηÏÔ‡Ó MAA ŸÓÔÌ· ªHb M Boston M Iwate FM Fort Ripley M Saskatoon (M Kurume) M Hyde Park (M Milwaukee-2) M Milwaukee (M Milwaukee-1) Fm Osaka ŸÓÔÌ· ·ÛÙ·ıÔ‡˜ Hb Auckland Chile Zurich

ÕÏ˘ÛÔ˜/·ÓÙÈηٿÛÙ·ÛË ·ÌÈÓÔͤˆÓ · 58 (∂7) His→Tyr · 87 (F8) His→Tyr Á 92 (F8) His→Tyr ‚ 63 (E7) His→Tyr ‚ 92 (F8) His→Tyr ‚ 67 (∂11) Val→Glu Á 63 (E7) His→Tyr · 87 (F8) His→Asn ‚ 28 (µ10) Leu→Met ‚ 63 (E7) His→Arg

ÛÙfi MetHb 20% Î·È ÔÏÈ΋ Hb 15 gr/dl ¤¯ÂÈ ÏÂÈÙÔ˘ÚÁÈ΋ Hb 12 gr/dl, ÂÓÒ ¤Ó·˜ ·ÛıÂÓ‹˜ Ì ÔÛÔÛÙfi MetHb 20% Î·È ÔÏÈ΋ Hb 8 gr/dl ¤¯ÂÈ ÏÂÈÙÔ˘ÚÁÈ΋ Hb 6,4 gr/dl ÌfiÓÔ. ™˘Ó˘¿Ú¯Ô˘Û· ·Ó·ÈÌ›·, ÔͤˆÛË ‹ ηډÈÔÓ¢ÌÔÓÈ΋ ÂÈ‚¿Ú˘ÓÛË ÌÔÚ› Ó· ‰ÒÛÔ˘Ó ‚·Ú‡ÙÂÚ· Û˘ÌÙÒÌ·Ù· ·fi Ù· ·Ó·ÌÂÓfiÌÂÓ· ÁÈ· ¤Ó· Û˘ÁÎÂÎÚÈ̤ÓÔ ÔÛÔÛÙfi MetHb (2). ∏ ΢¿ÓˆÛË ÛÙË ª∞∞ Â›Ó·È ÙÔ ÚÔ¤¯ÔÓ Û‡Ìو̷. ÷ڷÎÙËÚÈÛÙÈο, ‰ÂÓ ·ÓÙ·ÔÎÚ›ÓÂÙ·È Û ¯ÔÚ‹ÁËÛË Ô͢ÁfiÓÔ˘. ∫˘¿ÓˆÛË ÔÊÂÈÏfiÌÂÓË Û MetHb Á›ÓÂÙ·È ÎÏÈÓÈο ÂÌÊ·Ó‹˜ fiÙ·Ó Ë MetHb ÍÂÂÚ¿ÛÂÈ ÙÔ 1,5 gr/dl. ™Â ¤Ó· Ê˘ÛÈÔÏÔÁÈÎfi ¿ÙÔÌÔ, ·˘Ù‹ Ë ÙÈÌ‹ ·ÓÙÈÛÙÔȯ› ÛÙÔ 10-15% Ù˘ ÔÏÈ΋˜ Hb (¶›Ó·Î·˜ 3). ∂›‰· ÌÂÁ·Ï‡ÙÂÚ· ·fi ÙÔ 20% ÚÔηÏÔ‡Ó Û˘Ìو̷ÙÔÏÔÁ›·. ¢‡ÛÓÔÈ·, Ó·˘Ù›·, Ù·¯˘Î·Ú‰›· Î·È ‰È·Ù·Ú·¯¤˜ ÙÔ˘ ÂÈ¤‰Ô˘ Û˘Ó›‰ËÛ˘ ÂÌÊ·Ó›˙ÔÓÙ·È Û Â›‰· ¿Óˆ ·fi 30%. ∫·Ú‰È·ÁÁÂȷΤ˜ ÂÈÏÔΤ˜, Û·ÛÌÔ› Î·È ÎÒÌ· ·ÚÔ˘ÛÈ¿˙ÔÓÙ·È Û Â›‰· ¿Óˆ ·fi 50%, ÂÓÒ ÌÂÁ·Ï‡ÙÂÚ· ·fi 70% ÌÔÚ› Ó· Â›Ó·È ı·Ó·ÙËÊfiÚ· (28). ∞ÈÌÔÏ˘ÙÈ΋ ·Ó·ÈÌ›· ÌÔÚ› Ó· ·ÎÔÏÔ˘ı‹ÛÂÈ ÙËÓ ÂÓ‰Ô΢ÙÙ¿ÚÈ· ÔÍ›‰ˆÛË Î·È Ó· ÂÈϤÍÂÈ ÙËÓ ÎÏÈÓÈ΋ ÂÈÎfiÓ· (2). ∏ ÎÏÈÓÈ΋ ÂÌÊ¿ÓÈÛË Ù˘ Â›ÎÙËÙ˘ ÌÔÚÊ‹˜ Â›Ó·È Û˘Ó‹ıˆ˜ ·ÈÊÓ›‰È· Î·È ‰Ú·Ì·ÙÈ΋, Ì ΢¿ÓˆÛË, ‰‡ÛÓÔÈ·, Ï‹ı·ÚÁÔ, ̤¯ÚÈ Î·È ÂËÚ·Ṳ̂ÓÔ Â›Â‰Ô Û˘Ó›‰ËÛ˘. ∞ÓÙ›ıÂÙ·, ÔÈ ¿Û¯ÔÓÙ˜ ·fi ÙÔ Û˘ÁÁÂÓ‹ Ù‡Ô ·Ó·Ê¤ÚÔÓÙ·È ¯·Ú·ÎÙËÚÈÛÙÈο ˆ˜ “ÂÚÈÛÛfiÙÂÚÔ ÌÏ ·Ú¿ ¿ÚÚˆÛÙÔÈ” (“more blue than sick”). ∏ ΢¿ÓˆÛË ¤¯ÂÈ ‹È· ÁÎÚÈ ¯ÚÔÈ¿ Î·È ÂÓÙÔ›˙ÂÙ·È ÛÙË Ì‡ÙË, ÙȘ ·ÚÂȤ˜, Ù· ‰¿ÎÙ˘Ï·, ÙÔ˘˜ ‚ÏÂÓÓÔÁfiÓÔ˘˜ Î·È ÙÔ˘˜ ·ÌÊÈ‚ÏËÛÙÚÔÂȉ›˜. ™˘¯Ó¿ ‰È·Ê‡ÁÂÈ ÏfiÁˆ ˘¤Ú¯ÚˆÛ˘ ÙÔ˘ ‰¤ÚÌ·ÙÔ˜ ‹ ·Ó·ÈÌ›·˜. ¢ÂÓ Û˘Óԉ‡ÂÙ·È ·fi ÏËÎÙÚÔ‰·ÎÙ˘Ï›· (6). ∏ ‚·ÚÈ¿ Ó¢ÚÔÏÔÁÈ΋ ÂÈÎfiÓ· ÛÙÔ Û˘ÁÁÂÓ‹ Ù‡Ô ππ ·ÚÔ˘ÛÈ¿˙ÂÈ ¯·Ú·ÎÙËÚÈÛÙÈ΋ ÔÌÔÈÔÌÔÚÊ›·, ۯ‰fiÓ ·ıÔÁÓˆÌÔÓÈ΋. µ·ÚÈ¿ „˘¯ÔÎÈÓËÙÈ΋ ηı˘ÛÙ¤ÚËÛË, ÌÈÎÚÔÎÂÊ·Ï›·, ÁÂÓÈÎÂ˘Ì¤ÓË ‰˘ÛÙÔÓ›·, ÎÔÚÌÈ΋ ˘ÔÙÔÓ›· Î·È ·ÎÔ‡ÛȘ ¯ÔÚÂÈÔ·ıÂÙˆÛÈΤ˜ ÎÈÓ‹ÛÂȘ ¶·È‰È·ÙÚÈ΋ 2008;71:192-200

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·196

196

°. ¡ÈˆÙ¿Î˘ Î·È Û˘Ó.

¶›Ó·Î·˜ 3. ™˘ÌÙÒÌ·Ù· ·Ó¿ÏÔÁ· Ì ÙË Û˘ÁΤÓÙÚˆÛË Ù˘ MetHb ™˘ÁΤÓÙÚˆÛË MetHb

% ÔÏÈ΋˜ Hb*

™˘ÌÙÒÌ·Ù·†

<1,5 g/dl 1,5-3 g/dl 3-4,5 g/dl

<10 10-20 20-30

4,5-7,5 g/dl

30-50

7,5-10,5 g/dl

50-70

>10,5 g/dl

>70

∫·Ó¤Ó· ∫˘¿ÓˆÛË ∞ÓËÛ˘¯›·, ÎÂÊ·Ï·ÏÁ›·, Ù·¯˘Î·Ú‰›· ∫fiˆÛË, Û‡Á¯˘ÛË, ˙¿ÏË, Ù·¯‡ÓÔÈ·,ÛËÌ·ÓÙÈ΋ Ù·¯˘Î·Ú‰›· ∫ÒÌ·, Û·ÛÌÔ›, ·ÚÚ˘ıÌ›·, ÔͤˆÛË £¿Ó·ÙÔ˜

* ÀÔÏÔÁÈ˙fiÌÂÓË ÙÈÌ‹ Hb: 15 g/dl. √È ·ÛıÂÓ›˜ Ì ¯·ÌËÏfiÙÂÚ˜ Û˘ÁÎÂÓÙÚÒÛÂȘ Hb ÌÔÚ› Ó· ÂÌÊ·Ó›ÛÔ˘Ó ÛÔ‚·ÚfiÙÂÚ· Û˘ÌÙÒÌ·Ù· ÁÈ· ÙÔ Û˘ÁÎÂÎÚÈ̤ÓÔ ÔÛÔÛÙfi MetHb. † √È ·ÛıÂÓ›˜ Ì ˘ÔΛÌÂÓË Î·Ú‰ÈÔÓ¢ÌÔÓÈ΋ ‹ ·ÈÌ·ÙÔÏÔÁÈ΋ ÓfiÛÔ ÌÔÚ› Ó· ÂÌÊ·Ó›ÛÔ˘Ó ÛÔ‚·ÚfiÙÂÚ· Û˘ÌÙÒÌ·Ù· ÁÈ· Û˘ÁÎÂÎÚÈ̤ÓË Û˘ÁΤÓÙÚˆÛË MetHb.

·ÔÙÂÏÔ‡Ó ÙË ÛËÌÂÈÔÏÔÁ›· Ù˘ Û˘Ó‰ÚÔÌ‹˜. ∏ ÂÈ‚›ˆÛË ·˘ÙÒÓ ÙˆÓ ·ÛıÂÓÒÓ ·Ú·‚Ï¿ÙÂÙ·È ·fi ÙȘ ˘ÔÙÚÔÈ¿˙Ô˘Û˜ Ó¢ÌÔӛ˜ ·fi ÂÈÛÚfiÊËÛË Î·È ÙȘ ηٷÎÏ›ÛÂȘ, Ì ·ÔÙ¤ÏÂÛÌ· Ó· ηٷϋÁÔ˘Ó ÙÔ ·ÚÁfiÙÂÚÔ ÛÙËÓ ÙÚ›ÙË ‰ÂηÂÙ›· ˙ˆ‹˜ (24).

¢È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË ∏ ‰È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË ÛÙ· ‚Ú¤ÊË ÂÚÈÏ·Ì‚¿ÓÂÈ ·Ú¯Èο ÙËÓ Î˘·ÓˆÙÈ΋ Û˘ÁÁÂÓ‹ ηډÈÔ¿ıÂÈ·. ™ÙË ‰ÔÎÈÌ·Û›· ¯ÔÚ‹ÁËÛ˘ ·˘ÍËÌ¤ÓˆÓ Û˘ÁÎÂÓÙÚÒÛÂˆÓ Ô͢ÁfiÓÔ˘ ¯·Ú·ÎÙËÚÈÛÙÈο, ·˘Ù¿ Ù· ‚Ú¤ÊË ‰È·ÙËÚÔ‡Ó ¯·ÌËÏ‹ ÌÂÚÈ΋ ›ÂÛË Ô͢ÁfiÓÔ˘ ÛÙ· ·¤ÚÈ· ·ÚÙËÚÈ·ÎÔ‡ ·›Ì·ÙÔ˜ Î·È ¯·ÌËÏ‹ ÙÈÌ‹ ÎÔÚÂÛÌÔ‡ Û Ô͢ÁfiÓÔ. ∞Ó·ÙÔÌÈΤ˜ ·ÓˆÌ·Ï›Â˜ ÙˆÓ ·ÓÒÙÂÚˆÓ ·ÂÚÔÊfiÚˆÓ Ô‰ÒÓ, ͤÓÔ ÛÒÌ·, ΢ÛÙÈο ÌÔÚÊÒÌ·Ù· ‹ ·ÁÁÂÈ·Îfi˜ ‰·ÎÙ‡ÏÈÔ˜ Â›Ó·È ÌÂÚÈΤ˜ ηٷÛÙ¿ÛÂȘ Ô˘ Ú¤ÂÈ Ó· ·ÔÎÏÂÈÛÙÔ‡Ó. ∂˘Ú‹Ì·Ù· ·fi ÙËÓ ÎÏÈÓÈ΋ ÂͤٷÛË Î·È ÙÔÓ ·ÂÈÎÔÓÈÛÙÈÎfi ¤ÏÂÁ¯Ô ı· ηÙ¢ı‡ÓÔ˘Ó ÙË ‰È¿ÁÓˆÛË. √˘Û›Â˜ Ô˘ ÚÔηÏÔ‡Ó ª∞∞ (ÛÔ˘ÏÊÔÓ·Ì›‰Â˜, Ê·ÈÓ·ÎÂÙ›ÓË) ı· ÌÔÚÔ‡Û·Ó Ó· ÚÔηϤÛÔ˘Ó Î·È ıÂÈÔ·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›· (SHb-·ÈÌ›·). ∏ SHb ·ÊÔÚ¿ ÙËÓ ÚÔÛı‹ÎË ÂÓfi˜ ıÂÈÔ‡¯Ô˘ ÌÔÚ›Ô˘ ÛÙÔ ÌfiÚÈÔ Ù˘ ·›Ì˘. ∂›Ó·È ÏÈÁfiÙÂÚÔ Û˘¯Ó‹ Î·È Ì ËÈfiÙÂÚ· Û˘ÌÙÒÌ·Ù·. ∏ SHb ÚÔÛ‰›‰ÂÈ ÛÙÔ ·ÚÙËÚÈ·Îfi ·›Ì· ÛÎÔ‡Ú· ηʤ ¯ÚÔÈ¿, fiˆ˜ Î·È Ë MetHb. ÷ڷÎÙËÚÈÛÙÈο fï˜, ‰ÂÓ ·ÓÙȉڿ Ì ٷ ΢·ÓÈÔ‡¯·. ∂ÓÛÙ¿Ï·ÍË Î˘·ÓÈÔ‡¯Ô˘ Î·Ï›Ô˘ Û ‰Â›ÁÌ· ·›Ì·ÙÔ˜, ÛÙËÓ ÂÚ›ÙˆÛË Ù˘ ª∞∞, ı· ·ÏÏ¿ÍÂÈ ÙÔ ¯ÚÒÌ· ÙÔ˘ ‰Â›ÁÌ·ÙÔ˜ Û ·ÓÔȯÙfi ÎfiÎÎÈÓÔ, ÂÓÒ ÛÙËÓ ÂÚ›ÙˆÛË SHb, ı· ·Ú·Ì›ÓÂÈ ÛÎÔ‡ÚÔ Î·Ê¤ (29). ∏ ‰È¿ÁÓˆÛË ÂȂ‚·ÈÒÓÂÙ·È Ì ʷÛÌ·ÙÔʈÙÔÌÂÙÚ›·. ∏ SHb ‰ÂÓ ÌÔÚ› Ó· ·Ó·¯ı› Û Hb Î·È ÁÈ’ ·˘Ùfi ‰ÂÓ ·ÓÙ·ÔPaediatriki 2008;71:192-200

ÎÚ›ÓÂÙ·È ÛÙÔ ÌÏ ÙÔ˘ ÌÂı˘ÏÂÓ›Ô˘ ‹ Û ¿ÏÏ· ·ÓÙ›‰ÔÙ·. ∏ ıÂÚ·›· Â›Ó·È ˘ÔÛÙËÚÈÎÙÈ΋, ÂÓÒ ÌfiÓÔ Û ‚·ÚȤ˜ ÂÚÈÙÒÛÂȘ ÌÔÚ› Ó· ¯ÚÂÈ·ÛÙ› ·Ê·ÈÌ·ÍÔÌÂÙ¿ÁÁÈÛË (∞ºª) (3). ªÂ ‚¿ÛË ÙÔ ÔÈÎÔÁÂÓÂÈ·Îfi ÈÛÙÔÚÈÎfi ÌÔÚ› Ó· Á›ÓÂÈ ‰È¿ÎÚÈÛË ·Ó¿ÌÂÛ· ÛÙË Û˘ÁÁÂÓ‹ ÂÓ˙˘ÌÈ΋ ·ÓÂ¿ÚÎÂÈ· Ù˘ ΢Ùfi¯ÚˆÌ·-b5-·Ó·ÁˆÁ¿Û˘ Î·È Ù˘ Hbª, ÏfiÁˆ Ù˘ ‰È·ÊÔÚÂÙÈ΋˜ ÎÏËÚÔÓÔÌÈÎfiÙËÙ·˜. ∫˘¿ÓˆÛË Û ‰È·‰Ô¯ÈΤ˜ ÁÂÓȤ˜ ˘Ô‰ÂÈÎÓ‡ÂÈ ÙË ‰Â‡ÙÂÚË ÂÚ›ÙˆÛË, ÂÓÒ Ê˘ÛÈÔÏÔÁÈÎÔ› ÁÔÓ›˜ Ì Èı·Ó¿ ¿Û¯ÔÓÙ· ·‰¤ÚÊÈ· ηÙ¢ı‡ÓÂÈ ÚÔ˜ ÙËÓ ÚÒÙË (7).

∂ÚÁ·ÛÙËÚȷ΋ ‰È¿ÁÓˆÛË ∏ ÚˆÙ·Ú¯È΋ ‰È·ÁÓˆÛÙÈ΋ ÚÔÛ¤ÁÁÈÛË Û ¤Ó·Ó ·ÛıÂÓ‹ Ì ΢¿ÓˆÛË Â›Ó·È Ó· ‰È·ÊÔÚÔÔÈËı› Ë ·Ô͢ÁÔӈ̤ÓË Hb ·fi ÙË MetHb. ∆Ô ·ÚÙËÚÈ·Îfi ·›Ì· Ô˘ ÂÚȤ¯ÂÈ ÌÂÁ¿Ï˜ Û˘ÁÎÂÓÙÚÒÛÂȘ MetHb Ê·›ÓÂÙ·È ÛÎÔ‡ÚÔ Î·Ê¤, ÂÓÒ ÙÔ ¯ÚÒÌ· ÙÔ˘ ·Ô͢ÁÔӈ̤ÓÔ˘ ·›Ì·ÙÔ˜ Â›Ó·È ÛÎÔ‡ÚÔ ÎfiÎÎÈÓÔ/È҉˜. ∞Ó ÙÔÔıÂÙËıÔ‡Ó Ì›· ‹ ‰‡Ô ÛÙ·ÁfiÓ˜ ·›Ì·ÙÔ˜ ۠ϢÎfi ¯¿ÚÙÈÓÔ Ê›ÏÙÚÔ, ÙÔ ÛÎÔ‡ÚÔ Î·Ê¤ ¯ÚÒÌ· Ù˘ MetHb ‰ÂÓ ·ÏÏ¿˙ÂÈ Ì ÙÔ ¯ÚfiÓÔ, ÂÓÒ ÙÔ ÛÎÔ‡ÚÔ ÎfiÎÎÈÓÔ/È҉˜ Ù˘ ·Ô͢ÁÔӈ̤Ó˘ Hb Á›ÓÂÙ·È ·ÓÔȯÙfi ÎfiÎÎÈÓÔ (29). ∆Ô ·ÏÌÈÎfi Ô͇ÌÂÙÚÔ ÌÔÚ› Ó· Â›Ó·È ¯Ú‹ÛÈÌÔ ÂÚÁ·ÏÂ›Ô ÛÙÔÓ Î˘·ÓˆÙÈÎfi ·ÛıÂÓ‹. ™Â ·È‰› Ì ·Ó·Ó¢ÛÙÈ΋ ‹ ηډȷ΋ ÓfiÛÔ ·ÓÙ·Ó·ÎÏ¿ ÙÔ ‚·ıÌfi Ù˘ ˘ÔÍ·ÈÌ›·˜. ™Â ¤Ó·Ó ·ÛıÂÓ‹ Ì ª∞∞, Ë ‚·Ú‡ÙËÙ· Ù˘ ΢¿ÓˆÛ˘ ‰ÂÓ ·ÓÙ·ÔÎÚ›ÓÂÙ·È ÛÙËÓ ÙÈÌ‹ ÙÔ˘ Û˘Ì‚·ÙÈÎÔ‡ ·ÏÌÈÎÔ‡ ÔÍ˘Ì¤ÙÚÔ˘. ∆Ô Û˘Ì‚·ÙÈÎfi ·ÏÌÈÎfi Ô͇ÌÂÙÚÔ ˘ÔÏÔÁ›˙ÂÈ ÙÔÓ ÎÔÚÂÛÌfi Ù˘ Hb Û Ô͢ÁfiÓÔ, ÌÂÙÚÒÓÙ·˜ ·Ú¯Èο ÙËÓ ·ÔÚÚfiÊËÛË ÊˆÙfi˜ Ù˘ Ô͢ÁÔӈ̤Ó˘ Î·È Ù˘ ·Ô͢ÁÔӈ̤Ó˘ Hb Û 2 Ì‹ÎË Î‡Ì·ÙÔ˜, 660 nm Î·È 940 nm, Î·È ÛÙË Û˘Ó¤¯ÂÈ· ˘ÔÏÔÁ›˙ÔÓÙ·˜ ÙËÓ ·Ó·ÏÔÁ›· ·ÔÚÚfiÊËÛ˘ (∞660/∞940), ‚¿ÛÂÈ ÂÓfi˜ ÚÔÁÚ¿ÌÌ·ÙÔ˜ ·ÔıËÎÂ˘Ì¤ÓÔ˘ ÛÙË Û˘Û΢‹. ŸÙ·Ó Ë ·Ó·ÏÔÁ›· ·˘Ù‹ ÈÛÔ‡Ù·È Ì 1, Ô ÎÔÚÂÛÌfi˜ ·ÓÙÈÛÙÔȯ› Û 85%. ∏ MetHb Â›Ó·È Ì›· ·ÏÏÔȈ̤ÓË ÌÔÚÊ‹ Hb Î·È ·ÔÚÚÔÊ¿ ۯ‰fiÓ ÈÛfiÙÈÌ· Î·È ÛÙ· 2 Ì‹ÎË Î‡Ì·ÙÔ˜. ™Ù· ·Ú¯Èο ÛÙ¿‰È· Ù˘ ·Ú·ÁˆÁ‹˜ Ù˘ MetHb, Ô ÎÔÚÂÛÌfi˜ ¤ÊÙÂÈ Û¯Â‰fiÓ ·Ó¿ÏÔÁ· Ì ÙË Ì›ˆÛË Ù˘ Ô͢ÁÔӈ̤Ó˘ Hb. ŸÙ·Ó Ë Û˘ÁΤÓÙÚˆÛË Ù˘ MetHb ÊÙ¿ÛÂÈ Î·È ÍÂÂÚ¿ÛÂÈ ÙÔ 35%, Ë ·Ó·ÏÔÁ›· ·ÔÚÚfiÊËÛ˘ (∞660/∞940) ˘ÔÏÔÁ›˙ÂÙ·È ÛÙ·ıÂÚ¿ ÛÙÔ 1, Ì ·ÔÙ¤ÏÂÛÌ· ÙÔ Û˘Ì‚·ÙÈÎfi ·ÏÌÈÎfi Ô͇ÌÂÙÚÔ Ó· “‰È·‚¿˙ÂÈ” ÙÈ̤˜ ÎÔÚÂÛÌÔ‡ ÛÙ·ıÂÚ¿ Á‡Úˆ ÛÙÔ 85%, ·ÓÂÍ¿ÚÙËÙ· ·fi ÙËÓ ·˘Í·ÓfiÌÂÓË Û˘ÁΤÓÙÚˆÛË Ù˘ MetHb Î·È ÙËÓ ÂȉÂÈÓÔ‡ÌÂÓË ÁÂÓÈ΋ ηٿÛÙ·ÛË ÙÔ˘ ·ÛıÂÓÔ‡˜ (29). øÛÙfiÛÔ, Û‹ÌÂÚ· Â›Ó·È ‰È·ı¤ÛÈÌÔ ¤Ó· Ó¤Ô˘ Ù‡Ô˘ ·ÏÌÈÎfi Ô͇ÌÂÙÚÔ, Ô˘ ¯ÚËÛÈÌÔÔÈ› ÙËÓ ·ÔÚÚfiÊËÛË ÊˆÙfi˜ Û 8 ·ÓÙ› 2 Ì‹ÎË Î‡Ì·ÙÔ˜, ÁÈ· ÙÔÓ ˘ÔÏÔÁÈÛÌfi ÙÂÛÛ¿ÚˆÓ ÌÔÚÊÒÓ Hb, Ù˘ ·Ô͢ÁÔӈ̤Ó˘ Hb,

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·197

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Ù˘ Ô͢ÁÔӈ̤Ó˘ Hb, Ù˘ ηڂÔ͢-Hb Î·È Ù˘ MetHb. Œ¯ÂÈ ÂÁÎÚÈı› ·fi ÙËÓ FDA (Food and Drug Administration, ÂÈÙÚÔ‹ ÁÈ· ÙËÓ ¤ÁÎÚÈÛË ‰È¿ıÂÛ˘ ÙÚÔÊ›ÌˆÓ Î·È Ê·Ú̿ΈÓ) ÙˆÓ ∏¶∞. Œ¯ÂÈ ÌÂÁ¿ÏË ·ÍÈÔÈÛÙ›· ˆ˜ ̤ıÔ‰Ô˜, Ì ¯·ÌËÏ¿ ÔÛÔÛÙ¿ ·fiÎÏÈÛ˘, ÂÓÒ ÔÈ ÙÈ̤˜ ÙÔ˘ Â›Ó·È ·ÓÙ›ÛÙÔȯ˜ Ì ÙȘ ÌÂÙÚÔ‡ÌÂÓ˜ ·fi Ù· CO-Ô͇ÌÂÙÚ· (30). ∏ CO-o͢ÌÂÙÚ›· Â›Ó·È ÌÈ· ·ÎÚÈ‚‹˜ ÂÚÁ·ÛÙËÚȷ΋ ̤ıÔ‰Ô˜ ̤ÙÚËÛ˘ Ù˘ MetHb. ŒÓ· CO-Ô͇ÌÂÙÚÔ ÏÂÈÙÔ˘ÚÁ› Â›Û˘ ˆ˜ ¤Ó· ·ÏÔÔÈË̤ÓÔ Ê·ÛÌ·ÙÔʈÙfiÌÂÙÚÔ, ·ÏÏ¿, Û ·ÓÙ›ıÂÛË Ì ÙÔ Û˘Ì‚·ÙÈÎfi ·ÏÌÈÎfi Ô͇ÌÂÙÚÔ, ÌÂÙÚ¿ÂÈ ·ÔÚÚfiÊËÛË ÊˆÙfi˜ Û ÂÚÈÛÛfiÙÂÚ· ·fi 2 Ì‹ÎË Î‡Ì·ÙÔ˜, Ù· ÔÔ›· ·ÓÙÈÛÙÔÈ¯Ô‡Ó Û ÂȉÈο ·ÔÚÚÔÊËÙÈο ¯·Ú·ÎÙËÚÈÛÙÈο ÙˆÓ ‰È·ÊÔÚÂÙÈÎÒÓ ÌÔÚÊÒÓ Hb. √È ÚÒÙ˜ Û˘Û΢¤˜ ÌÂÙÚÔ‡Û·Ó ·ÔÚÚfiÊËÛË Û 4 Ì‹ÎË Î‡Ì·ÙÔ˜, ÂÓÒ Û‹ÌÂÚ· ˘¿Ú¯Ô˘Ó Ù· “Û˘Ó¯‹ Ê·ÛÌ·ÙÔʈÙfiÌÂÙÚ·” Ô˘ ¯ÚËÛÈÌÔÔÈÔ‡Ó 128 Ì‹ÎË Î‡Ì·ÙÔ˜. ŒÓ· ̤ÁÈÛÙÔ ·ÔÚÚfiÊËÛ˘ ·ÎÙÈÓÔ‚ÔÏ›·˜ ÛÙ· 630 nm ¯·Ú·ÎÙËÚ›˙ÂÈ ÙË MetHb. ¶Úfi‚ÏËÌ· ·ÚÔ˘ÛÈ¿˙ÂÙ·È ÛÙË Û¿ÓÈ· ÂÚ›ÙˆÛË ∏bª, fiÔ˘ ‰ÂÓ ÂÌÊ·Ó›˙ÂÙ·È ÙÔ Ì¤ÁÈÛÙÔ ·ÔÚÚfiÊËÛ˘ ÛÙ· 630 nm, ÔfiÙ ÙÔ CO-Ô͇ÌÂÙÚÔ ‰Â›¯ÓÂÈ Ê˘ÛÈÔÏÔÁÈΤ˜ ÙÈ̤˜ MetHb. ∞ÓÙ›ıÂÙ·, ÙÔ Ì¤ÁÈÛÙÔ Ù˘ ·ÔÚÚfiÊËÛ˘ ·ÚÔ˘ÛÈ¿˙ÂÙ·È ÛÙ· 600 ‹ Ù· 610-620 nm, ÔfiÙ ÂÛÊ·Ï̤ӷ Ï·Ì‚¿ÓÂÙ·È ÙÔ ·ÔÙ¤ÏÂÛÌ· ˆ˜ ˘„ËÏ‹ ÙÈÌ‹ ηڂÔ͢-Hb ‹ SHb, ·ÓÙ›ÛÙÔȯ·. ª¤ÙÚËÛË ·ÔÚÚfiÊËÛ˘ ÛÙ· 500, 600 Î·È 630 nm Î·È ˘ÔÏÔÁÈÛÌfi˜ ÙˆÓ ÏfiÁˆÓ ∞630/∞600 Î·È ∞500/∞600 ÌÔÚÔ‡Ó Ó· ÂÈχÛÔ˘Ó ÙÔ Úfi‚ÏËÌ· (29). √È ·ÛıÂÓ›˜ Ì ª∞∞ ÌÔÚÔ‡Ó Ó· ¤¯Ô˘Ó Ê˘ÛÈÔÏÔÁÈο Â›‰· PO2 Î·È „¢‰Ò˜ ˘„ËÏ‹ ÙÈÌ‹ ÎÔÚÂÛÌÔ‡ Û Ô͢ÁfiÓÔ ÛÙ· ·¤ÚÈ· ·ÚÙËÚÈ·ÎÔ‡ ·›Ì·ÙÔ˜, ·Ú¿ ÙËÓ ·ÂÈÏËÙÈ΋ ÁÈ· ÙË ˙ˆ‹ MetHb. √È ·Ó·Ï˘Ù¤˜ ÙˆÓ ·ÂÚ›ˆÓ ·ÚÙËÚÈ·ÎÔ‡ ·›Ì·ÙÔ˜ ˘ÔÏÔÁ›˙Ô˘Ó ÙËÓ ƒ√2 ·fi ÙË ‰È¿¯˘ÛË ÙÔ˘ Ô͢ÁfiÓÔ˘ ÛÙÔ ·›Ì· Î·È fi¯È ·fi ÙÔ Û˘Ó‰Â‰Â̤ÓÔ Ì ÙËÓ Hb Ô͢ÁfiÓÔ. ∂ÈϤÔÓ, ˘ÔÏÔÁ›˙Ô˘Ó ÙÔÓ ÎÔÚÂÛÌfi Û Ô͢ÁfiÓÔ Û ۯ¤ÛË Ì ÙÔ pH, ÙËÓ PO2 Î·È ÙËÓ Î·Ì‡ÏË ·Ô‰¤ÛÌ¢Û˘ ÙÔ˘ Ô͢ÁfiÓÔ˘, ıˆÚÒÓÙ·˜ fiÙÈ ˘¿Ú¯ÂÈ ÌfiÓÔ Ê˘ÛÈoÏÔÁÈ΋ Hb ÛÙÔ ·›Ì· ÙÔ˘ ·ÛıÂÓÔ‡˜. ∏ MetHb, Ô˘ ‰ÂÓ ÌÔÚ› Ó· ÌÂٷʤÚÂÈ Ô͢ÁfiÓÔ, ·ÏÏ¿ ‰ÂÓ ·ÚÂÌÔ‰›˙ÂÈ ÙËÓ Ó¢ÌÔÓÈ΋ ‰È¿¯˘ÛË ÙÔ˘ Ô͢ÁfiÓÔ˘, Ô‰ËÁ› Û „¢‰Ò˜ ˘„ËϤ˜ ÙÈ̤˜ ÎÔÚÂÛÌÔ‡ Û Ô͢ÁfiÓÔ. ™˘Û΢¤˜, ÔÈ Ôԛ˜ ı· Û˘Ó‰˘¿˙Ô˘Ó CO-Ô͇ÌÂÙÚÔ Î·È ·Ó·Ï˘Ù‹ ·ÂÚ›ˆÓ ·›Ì·ÙÔ˜, ı· ·ÓÙ·Ó·ÎÏÔ‡Ó ÙË Û˘ÌÌÂÙÔ¯‹ fiÏˆÓ ÙˆÓ Ù‡ˆÓ Ù˘ Hb Î·È ı· ·Ú¤¯Ô˘Ó ·ÍÈfiÈÛÙ˜ ÙÈ̤˜ ÙÔ˘ ÎÔÚÂÛÌÔ‡ (3). ∆· Â›‰· Ù˘ MetHb ÛÙÔ ·›Ì· ÌÂÙÚÔ‡ÓÙ·È Ì ÙË Ì¤ıÔ‰Ô Evelyn-Malloy (31). ™ÙËÓ ÂÚ›ÙˆÛË Ù˘ ª∞∞ ·fi Â›‰Ú·ÛË ÙÔÍÈÎÔ‡ ·Ú¿ÁÔÓÙ·, ¯Ú‹ÛÈÌÔ Â›Ó·È Ó· ÌÂÙÚÔ‡ÓÙ·È Ù· Â›‰¿ ÙÔ˘ ÛÙÔ ·›Ì· Û ٷÎÙÈο ‰È·ÛÙ‹Ì·Ù·, fiÔ˘ ·˘Ùfi Â›Ó·È ÂÊÈÎÙfi, ÁÈ· Ó· ·Ú·ÎÔÏÔ˘ıÂ›Ù·È Î·Ï‡ÙÂÚ· Ë ÙÔÍÈÎfiÙËÙ·. ∂ÈϤÔÓ,

ÛÙËÓ Â›ÎÙËÙË ª∞∞, Ù· Â›‰· Ù˘ cytb5r Â›Ó·È Ê˘ÛÈÔÏÔÁÈο. ∏ ̤ÙÚËÛË ÙˆÓ ÂÈ¤‰ˆÓ Ù˘ cytb5r Â›Ó·È ‰˘Ó·Ù‹ Ì ÌÂıfi‰Ô˘˜ ËÏÂÎÙÚÔÊfiÚËÛ˘ Û ÂȉÈο ˘ÏÈο, fiˆ˜ Ë Á¤ÏË ·fi 12% ÔÏ˘·ÎÎÚÈÌ›‰Ë, fiÔ˘ ˘ÔÏÔÁ›˙ÂÙ·È Ë ‰Ú·ÛÙÈÎfiÙËÙ· ÙÔ˘ ÂÓ˙‡ÌÔ˘ ·fi ÙË Û¯ÂÙÈ΋ ˘ÎÓfiÙËÙ· ÙÔ˘ ¯ÚÒÌ·ÙÔ˜ οı ËÏÂÎÙÚÔÊÔÚËÙÈ΋˜ ÛÙ‹Ï˘ (“band”). ∏ ÌÔÚȷ΋ ·Ó¿Ï˘ÛË ÚÔÛʤÚÂÈ ÙËÓ ÙÂÏÈ΋ ÂȂ‚·›ˆÛË Ù˘ ‰È¿ÁÓˆÛ˘ Ì ÙËÓ ·ÔÌfiÓˆÛË ÙÔ˘ ÁÂÓÂÙÈÎÔ‡ ˘ÏÈÎÔ‡ ·fi Ù· ·ÙÙ·Ú· (∂∞ ÁÈ· ÙÔÓ Ù‡Ô π, ÏÂ˘Î¿ ·ÈÌÔÛÊ·›ÚÈ· ÁÈ· ÙÔÓ Ù‡Ô ππ) Î·È ÙË ÌÂϤÙË Ù˘ ·ÎÔÏÔ˘ı›·˜ ÙˆÓ ‚¿ÛÂˆÓ ÛÙÔ ÁÔÓ›‰ÈÔ DIA1 Ì ÙË Ì¤ıÔ‰Ô Ù˘ ·Ï˘ÛȉˆÙ‹˜ ·ÓÙ›‰Ú·Û˘ Ù˘ ÔÏ˘ÌÂÚ¿Û˘ (polymerase chain reaction PCR). ∏ ÎÚ˘ÛÙ·ÏÏÔÁÚ·Ê›· Ì ·ÎÙ›Ó˜ à ÚÔÛʤÚÂÈ ÙË ‰˘Ó·ÙfiÙËÙ· Ù˘ ‰È·ÌfiÚʈÛ˘ Ù˘ ÙÚÈۉȿÛÙ·Ù˘ ‰ÔÌ‹˜ ÙÔ˘ ÂÓ˙‡ÌÔ˘, ÒÛÙ ӷ Â›Ó·È ÂÌÊ·Ó‹˜ ÛÙÂÚÂÔÛÎÔÈο Ë ‰È·ÊÔÚÔÔ›ËÛË Ô˘ ÚÔηÏ› οı ÌÂÙ¿ÏÏ·ÍË (22,23). ™ÙËÓ ÂÚ›ÙˆÛË Ù˘ HbM, Ë ËÏÂÎÙÚÔÊfiÚËÛË Ù˘ Hb Û pH 7,1, ÛÂ Û˘Ó‰˘·ÛÌfi Ì ٷ ȉȷ›ÙÂÚ· ʈÙÔÊ·ÛÌ·ÙÔÌÂÙÚÈο ¯·Ú·ÎÙËÚÈÛÙÈο Ù˘ Hbª Î·È ÙË ÁÔÓȉȷ΋ ·Ó¿Ï˘ÛË, ı· ÂȂ‚·ÈÒÛÔ˘Ó ÙË ‰È¿ÁÓˆÛË (7). ™Â ÂÚ›ÙˆÛË ‰È¿ÁÓˆÛ˘ ÎÏËÚÔÓÔÌÈ΋˜ ÌÔÚÊ‹˜ ª∞∞, Â›Ó·È ÂȂ‚ÏË̤ÓË Ë ÁÂÓÂÙÈ΋ Û˘Ì‚Ô˘Ï¢ÙÈ΋ ÛÙÔ˘˜ ÁÔÓ›˜. ∞Ú¯Èο, ı· Á›ÓÂÈ ÌÂϤÙË ÁÈ· ·Ó›¯Ó¢ÛË ÙˆÓ ‡ÔÙˆÓ ·ıÔÏÔÁÈÎÒÓ ÁÔÓȉ›ˆÓ ÛÙÔ˘˜ ›‰ÈÔ˘˜ Î·È ı· Û˘˙ËÙËıÔ‡Ó Ù· ÂӉ¯fiÌÂÓ· ÔÛÔÛÙ¿ ·fiÎÙËÛ˘ ¿Û¯ÔÓÙÔ˜ ·È‰ÈÔ‡, Ì ‚¿ÛË ÙÔ Î˘Ú›·Ú¯Ô ‹ ˘ÔÏÂÈfiÌÂÓÔ ÌÔÓÙ¤ÏÔ ÎÏËÚÔÓÔÌÈÎfiÙËÙ·˜. ™Â ÂӉ¯fiÌÂÓË ÂÁ΢ÌÔÛ‡ÓË, ·ÎÔÏÔ‡ıˆ˜, Ô ¤ÏÂÁ¯Ô˜ ı· ÔÏÔÎÏËÚˆı› Ì ÙËÓ ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË Ì ÙË ‚Ô‹ıÂÈ· Ù˘ ÁÔÓȉȷ΋˜ ·Ó¿Ï˘Û˘ Û ·ÙÙ·Ú· ÙÔ˘ ·ÌÓÈ·ÎÔ‡ ˘ÁÚÔ‡, ÒÛÙ ӷ ÂȂ‚·Èˆı› ÙÔ ÁÔÓȉȷÎfi ÚÔÊ›Ï ÙÔ˘ ÂÌ‚Ú‡Ô˘. ∂›Ó·È ··Ú·›ÙËÙÔ Ó· ‰È¢ÎÚÈÓÈÛÙ› fiÙÈ Ë Ó¢ÚÔÏÔÁÈ΋ ‚Ï¿‚Ë ÛÙÔÓ Ù‡Ô ππ Ù˘ ·ÓÂ¿ÚÎÂÈ·˜ cytb5r ‰ÂÓ ÌÔÚ› Ó· ·Ó·ÛÙÚ·Ê›. ∆· ·ÂÈÎÔÓÈÛÙÈο Â˘Ú‹Ì·Ù· ÛÙÔÓ ÂÁΤʷÏÔ Ì ÙËÓ Ù¯ÓÈ΋ ÙÔ˘ Ì·ÁÓËÙÈÎÔ‡ Û˘ÓÙÔÓÈÛÌÔ‡ ÛÙÔÓ Ù‡Ô ππ Ù˘ ·ÓÂ¿ÚÎÂÈ·˜ Ù˘ cytb5r ÂÚÈÏ·Ì‚¿ÓÔ˘Ó ·ÙÚÔÊ›· ÙÔ˘ ÊÏÔÈÔ‡ Î·È ÙˆÓ ˘ÔÊÏÔÈÒ‰ˆÓ Û¯ËÌ·ÙÈÛÌÒÓ Î·È Î·ı˘ÛÙ¤ÚËÛË ÛÙË Ì˘ÂϛӈÛË. ™˘ÌÌÂÙÔ¯‹ ·fi Ù· ‚·ÛÈο Á¿ÁÁÏÈ·, ·Ó Î·È Â›Ó·È ·Ó·ÌÂÓfiÌÂÓË, ÏfiÁˆ Ù˘ ÛÙ·ıÂÚ¿ ·Ú·ÙËÚÔ‡ÌÂÓ˘ ‰˘ÛÙÔÓ›·˜, ‰ÂÓ ÂȂ‚·ÈÒÓÂÙ·È.

£ÂÚ·›· ∞fi ÙË ÛÙÈÁÌ‹ Ô˘ ı· ·Ó·ÁÓˆÚÈÛÙ› Ë ·ÂÈÏËÙÈ΋ ÁÈ· ÙË ˙ˆ‹ ª∞∞ Î·È ı· ÂȂ‚·Èˆı›, Ú¤ÂÈ Ó· ·ÓÙÈÌÂÙˆÈÛÙ› ¿ÌÂÛ·. ∂ÓÙÔ‡ÙÔȘ, ÔÏÏÔ› ·ÛıÂÓ›˜ ‰Â ¯ÚÂÈ¿˙ÔÓÙ·È ıÂÚ·›· Ì ·ÓÙ›‰ÔÙ· Î·È ‚ÂÏÙÈÒÓÔÓÙ·È ÌfiÓÔ Ì ˘ÔÛÙËÚÈÎÙÈ΋ ·ÁˆÁ‹. ÕÌÂÛ· ˘ÔÛÙËÚÈÎÙÈο ̤ÙÚ· ·ÔÙÂÏÔ‡Ó Ë ·ÔÌ¿ÎÚ˘ÓÛË ÙÔ˘ ¶·È‰È·ÙÚÈ΋ 2008;71:192-200

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·198

198

°. ¡ÈˆÙ¿Î˘ Î·È Û˘Ó.

ÙÔÍÈÎÔ‡ ·Ú¿ÁÔÓÙ·, Ì ̤۷ fiˆ˜ Ë χÛË ÛÙÔÌ¿¯Ô˘ Î·È Ë ¯ÔÚ‹ÁËÛË ÂÓÂÚÁÔ‡ ¿Óıڷη, Û ÂÚ›ÙˆÛË Ï‹„˘ ·fi ÙÔ ÛÙfiÌ·, ‹ Ë Ù·¯Â›· ÂÓ˘‰¿ÙˆÛË Û ‚Ú¤ÊË Ì ª∞∞ ‡ÛÙÂÚ· ·fi ‰È·ÚÚÔ˚Îfi Û‡Ó‰ÚÔÌÔ Î·È Ë ¯ÔÚ‹ÁËÛË ‰ÈÙÙ·ÓıÚ·ÎÈÎÒÓ Û ÂӉ¯fiÌÂÓË ‚·ÚÈ¿ ÔͤˆÛË. ∆· Â›‰· ıÂÚ·¢ÙÈ΋˜ ·Ú¤Ì‚·Û˘ ıˆÚÔ‡ÓÙ·È ÂÚ›Ô˘ ÙÔ 20% Ù˘ ÔÏÈ΋˜ Hb ÛÂ Û˘Ìو̷ÙÈÎÔ‡˜ ·ÛıÂÓ›˜ Î·È 30% Û ·Û˘Ìو̷ÙÈÎÔ‡˜. √È ·ÛıÂÓ›˜ Ì ÛÔ‚·Ú¿ Û˘Ó˘¿Ú¯ÔÓÙ· ÚÔ‚Ï‹Ì·Ù· Ô˘ ÂÚÈÔÚ›˙Ô˘Ó ÙË ÌÂÙ·ÊÔÚ¿ ÙÔ˘ Ô͢ÁfiÓÔ˘ (ηډÈÔ·Ó·Ó¢ÛÙÈ΋ ÓfiÛÔ˜, ·Ó·ÈÌ›·) ı· Ú¤ÂÈ Ó· ıÂÚ·‡ÔÓÙ·È ·fi Â›‰· 10% (32). ∏ ıÂÚ·›· ÂÎÏÔÁ‹˜ ÁÈ· ÙË ÛÔ‚·Ú‹ ÔÍ›· ª∞∞ Â›Ó·È ÙÔ ÌÏ ÙÔ˘ ÌÂı˘ÏÂÓ›Ô˘ (ªª). ∆Ô ªª ÛÙËÓ Ú·ÁÌ·ÙÈÎfiÙËÙ· Â›Ó·È ¤Ó·˜ ÔÍÂȉˆÙÈÎfi˜ ·Ú¿ÁÔÓÙ·˜. ∞ÊÔ‡ ÂÈÛ¤ÏıÂÈ ÛÙ· ∂∞, Ú¤ÂÈ Ó· ·Ó·¯ı› Û ÌÏ ÙÔ˘ Ï¢ÎÔÌÂı˘ÏÂÓ›Ô˘, Ô˘ Â›Ó·È Ô Û˘Ó‹ıˆ˜ ·Ó·ÁˆÁÈÎfi˜ ·Ú¿ÁÔÓÙ·˜. ∏ ·ÓÙ›‰Ú·ÛË ·˘Ù‹ ÂÈÙÂÏÂ›Ù·È Ì¤Ûˆ Ù˘ NADPH-·Ó·ÁˆÁ¿Û˘. ∫·Ùã ·˘Ùfi ÙÔÓ ÙÚfiÔ, fiÙ·Ó ÔÈ ·ÛıÂÓ›˜ Ì ·ÓÂ¿ÚÎÂÈ· NADPH-·Ó·ÁˆÁ¿Û˘ ·ÚÔ˘ÛÈ¿ÛÔ˘Ó ª∞∞, ‰ÂÓ ·ÓÙ·ÔÎÚ›ÓÔÓÙ·È ÛÙË Û˘Ó‹ıË ıÂÚ·›· Ì ªª (32). ∏ Û˘ÓÈÛÙÒÌÂÓË ‰ÔÛÔÏÔÁ›· Â›Ó·È 1-2 mg/kg Î·È ¯ÔÚËÁÂ›Ù·È ÂÓ‰ÔÊÏ‚›ˆ˜ Û 5 ¤ˆ˜ 10 ÏÂÙ¿, Ì ̤ÁÈÛÙË ‰fiÛË Ù· 50 mg/‰fiÛË ÛÙ· ·È‰È¿ (6). √ ÂӉ‰ÂÈÁ̤ÓÔ˜ ÙÚfiÔ˜ ÂÎÙ›ÌËÛ˘ Ù˘ ·ÔÙÂÏÂÛÌ·ÙÈÎfiÙËÙ·˜ Ù˘ ıÂÚ·›·˜ ‰ÂÓ Â›Ó·È Ë ‡ÊÂÛË Ù˘ ΢¿ÓˆÛ˘, ·ÏÏ¿ Ë Û˘¯Ó‹ ̤ÙÚËÛË ÙˆÓ ÂÈ¤‰ˆÓ Ù˘ MetHb ÛÙÔ ·›Ì· (1). ∏ ‰fiÛË ÌÔÚ› Ó· Â·Ó·ÏËÊı› Ì 1 mg/kg ‡ÛÙÂÚ· ·fi Ì›· ÒÚ·, Â¿Ó Ë ª∞∞ ‰ÂÓ ¤¯ÂÈ ·Ó·ÛÙÚ·Ê›. ™Â Û˘ÓÔÏÈ΋ ‰fiÛË ¿Óˆ ·fi 7 mg/kg, ÙÔ ∂∞ ·‰˘Ó·Ù› Ó· ÂÍÔ˘‰ÂÙÂÚÒÛÂÈ ÙÔ ªª Î·È ·ÚÔ˘ÛÈ¿˙ÂÙ·È ÂÈϤÔÓ ª∞∞ ·fi ÙËÓ ÔÍÂȉˆÙÈ΋ ‰Ú¿ÛË ÙÔ˘ ÏÂÔÓ¿˙ÔÓÙÔ˜ ªª (6). ø˜ Û˘ÌÏËڈ̷ÙÈÎfi ıÂÚ·¢ÙÈÎfi ̤ÙÚÔ, ÔÏÏÔ› ¯ÔÚËÁÔ‡Ó ‰È¿Ï˘Ì· ‰ÂÍÙÚfi˙˘. ∏ ‚·ÛÈ΋ ËÁ‹ ÁÈ· ÙËÓ ·Ú·ÁˆÁ‹ NADH ÛÙÔ ∂∞ Â›Ó·È Ë ‰È¿Û·ÛË Ù˘ ÁÏ˘Îfi˙˘. °È· ÙËÓ ·ÔÙÂÏÂÛÌ·ÙÈÎfiÙËÙ· ÙˆÓ ÂÓ‰ÔÁÂÓÒÓ ·Ó·ÁˆÁÈÎÒÓ Û˘ÛÙËÌ¿ÙˆÓ, ı· Ú¤ÂÈ Ë ÁÏ˘Îfi˙Ë Ó· ˘¿Ú¯ÂÈ Û ÌÂÁ¿Ï· ·Ôı¤Ì·Ù·. ∏ ¯ÔÚËÁÔ‡ÌÂÓË ÁÏ˘Îfi˙Ë, ÂÍ¿ÏÏÔ˘, ÚÔ¿ÁÂÈ ÙÔ ÌÂÙ·‚ÔÏÈÎfi ÌÔÓÔ¿ÙÈ Ù˘ ÌÔÓÔʈÛÊÔÚÈ΋˜ ÂÍfi˙˘, ·fi fiÔ˘ ·Ú¿ÁÂÙ·È ÙÔ NADPH, ÙÔ ÔÔ›Ô ÙÂÏÈο ηıÔÚ›˙ÂÈ ÙËÓ ·ÔÙÂÏÂÛÌ·ÙÈÎfiÙËÙ· Ù˘ ıÂÚ·¢ÙÈ΋˜ ¯ÔÚ‹ÁËÛ˘ ÙÔ˘ ªª (3). π‰È·›ÙÂÚË ÚÔÛÔ¯‹ ¯ÚÂÈ¿˙ÂÙ·È Ë ÙÔÍÈÎfiÙËÙ· ·fi οÔȘ Ô˘Û›Â˜, fiˆ˜ Ë ‰·„fiÓË Î·È Ë ·ÓÈÏ›ÓË, Ô˘ ÛÙËÓ ÔÚ›· Ù˘ ·ÔηٿÛÙ·Û˘ ÚÔηÏÔ‡Ó Ê·ÈÓfiÌÂÓÔ “rebound”. ∆· Â›‰· Ù˘ MetHb ·˘Í¿ÓÔÓÙ·È Í·Ó¿, 4 ¤ˆ˜ 12 ÒÚ˜ ‡ÛÙÂÚ· ·fi ·Ú¯Èο ÂÈÙ˘¯‹ ıÂÚ·›· Ì ÌÏ ÙÔ˘ ÌÂı˘ÏÂÓ›Ô˘, ÏfiÁˆ Ù˘ Û˘Ó¯È˙fiÌÂÓ˘ ·ÔÚÚfiÊËÛ˘ ÙÔ˘ ÔÍÂȉˆÙÈÎÔ‡ ·Ú¿ÁÔÓÙ· ‹ ÙÔ˘ ÙÔÍÈÎÔ‡ ÌÂÙ·‚ÔÏ›ÙË ·˘ÙÔ‡ (2). ∂ÈϤÔÓ, ‡ÛÙÂÚ· ·fi Ï‹„Ë ·ÓÈÏ›Ó˘, Ô ÙÔÍÈÎfi˜ ÌÂÙ·‚ÔÏ›Ù˘ Ù˘ Paediatriki 2008;71:192-200

Ê·ÈÓ˘Ï˘‰ÚÔÍ˘Ï·Ì›Ó˘ ·ÚÂÌÔ‰›˙ÂÈ ÙËÓ ÚfiÛÏË„Ë ÙÔ˘ ªª ·fi Ù· ∂∞ (32). µ·ÛÈ΋ ·ÓÙ¤Ó‰ÂÈÍË ÛÙË ıÂÚ·›· Ì ªª ·ÔÙÂÏ› Ë ·ÓÂ¿ÚÎÂÈ· G6PD. ™Â ·ÛıÂÓ›˜ Ì ·ÓÂ¿ÚÎÂÈ· G6PD, ÙÔ ªª ÚÔηÏ› ·ÈÌÔÏ˘ÙÈ΋ ·Ó·ÈÌ›· (32). ∂ÈϤÔÓ, Ë G6PD Â›Ó·È ÙÔ ÚÒÙÔ ¤Ó˙˘ÌÔ ÛÙÔÓ Î‡ÎÏÔ Ù˘ ÌÔÓÔʈÛÊÔÚÈ΋˜ ÂÍfi˙˘ Ô˘ Â›Ó·È Î·È Ë ÌÔÓ·‰È΋ ËÁ‹ NADPH ÛÙ· ∂∞. ∂Ô̤ӈ˜, ÔÈ ·ÛıÂÓ›˜ Ì ·ÓÂ¿ÚÎÂÈ· G6PD ‰ÂÓ ·Ú¿ÁÔ˘Ó ÈηÓÔÔÈËÙÈΤ˜ ÔÛfiÙËÙ˜ NADPH. ∏ NADPH-·Ó·ÁˆÁ¿ÛË Î·ı›ÛÙ·Ù·È ·ÓÂ·Ú΋˜ Î·È ‰ÂÓ ÂÈÙÂÏÂ›Ù·È Ë ·Ó·ÁˆÁ‹ ÙÔ˘ ªª Û ÌÏ ÙÔ˘ Ï¢ÎÔÌÂı˘ÏÂÓ›Ô˘, ÔfiÙÂ Ë ıÂÚ·›· Ì ªª Â›Ó·È ·Ó·ÔÙÂÏÂÛÌ·ÙÈ΋ (28). ∂›Ó·È ··Ú·›ÙËÙÔ˜ Ô ·ÔÎÏÂÈÛÌfi˜ Ù˘ ·ÓÂ¿ÚÎÂÈ·˜ G6PD ÙÔ˘ ·ÛıÂÓÔ‡˜ Ô˘ ÚfiÎÂÈÙ·È Ó· ˘Ô‚ÏËı› Û ıÂÚ·›· Ì ªª. ∂ÈÚfiÛıÂÙ˜ ·ÓÙÂӉ›ÍÂȘ ¯ÔÚ‹ÁËÛ˘ ªª Â›Ó·È Ë ÓÂÊÚÈ΋ ·ÓÂ¿ÚÎÂÈ·, ÏfiÁˆ Ù˘ ÓÂÊÚÈ΋˜ ·¤ÎÎÚÈÛ˘ Ù˘ ¯ÚˆÛÙÈ΋˜, Î·È Ë ª∞∞, Ë ÔÔ›· ÚÔηÏÂ›Ù·È Î·Ù¿ ÙË ıÂÚ·›· Ì ÓÈÙÚÒ‰Ë, Ô˘ ¯ÔÚËÁÔ‡ÓÙ·È Û ‰ËÏËÙËÚ›·ÛË Ì ΢·ÓÈÔ‡¯·. ªË ·ÓÙ·fiÎÚÈÛË ÛÙË ıÂÚ·›· Ì ªª ˘Ô‰ËÏÒÓÂÈ ·ÓÂ¿ÚÎÂÈ· Ù˘ NADPH-·Ó·ÁˆÁ¿Û˘, ·ÓÂ¿ÚÎÂÈ· G6PD ‹ SHb-·ÈÌ›· (33). ∏ ·Ê·ÈÌ·ÍÔÌÂÙ¿ÁÁÈÛË (∞ºª) ÂÊ·ÚÌfi˙ÂÙ·È ÌfiÓÔ Û ·ÂÈÏËÙÈΤ˜ ÁÈ· ÙË ˙ˆ‹ ÂÚÈÙÒÛÂȘ, Ô˘ ›ÙÂ Â›Ó·È ·ÓıÂÎÙÈΤ˜ ÛÙÔ ªª ›Ù ˘¿Ú¯ÂÈ ·ÓÙ¤Ó‰ÂÈÍË ÛÙË ¯ÔÚ‹ÁËÛ‹ ÙÔ˘ (28). ™˘Á¯ÚfiÓˆ˜ ‹ ÂÓ·ÏÏ·ÎÙÈο Ì ÙËÓ ∞ºª, Ì ÙȘ ›‰È˜ ÂӉ›ÍÂȘ, ÌÔÚ› Ó· ¯ÔÚËÁËı› ˘ÂÚ‚·ÚÈÎfi Ô͢ÁfiÓÔ. ™Â ȤÛÂȘ 283 kPa Î·È Û˘ÁÎÂÓÙÚÒÛÂȘ 100%, ÙÔ ·¤ÚÈÔ ‰È·¯¤ÂÙ·È ÂχıÂÚÔ ÛÙËÓ Î˘ÎÏÔÊÔÚ›·, ·Ú·Î¿ÌÙÔÓÙ·˜ ÙËÓ ·ÓÂ·ÚÎÔ‡Û· Hb, ÊÙ¿ÓÔÓÙ·˜ Û ·Ó·ÏÔÁ›· 300 ml Ô͢ÁfiÓÔ˘ Û 5.000 ml ·›Ì·ÙÔ˜, ÒÛÙ ӷ ηχÙÂÙ·È Ô ‚·ÛÈÎfi˜ ÌÂÙ·‚ÔÏÈÛÌfi˜ ÛÙÔ˘˜ ÈÛÙÔ‡˜ (34). ∂ÈϤÔÓ fiÊÂÏÔ˜ ·fi ÙÔ ˘ÂÚ‚·ÚÈÎfi Ô͢ÁfiÓÈÔ Ê·›ÓÂÙ·È Ó· Â›Ó·È Ë ÚfiÏË„Ë ‹/Î·È ıÂÚ·›· Ù˘ ÂÁÎÂÊ·ÏÈ΋˜ ˘ÔÍ›·˜, ÛÂ Û˘Óı‹Î˜ ÌÂȈ̤Ó˘ ·Ô‰¤ÛÌ¢Û˘ Ô͢ÁfiÓÔ˘, Û ·ÂÈÏËÙÈο ÁÈ· ÙË ˙ˆ‹ Â›‰· ª∞∞ (35). ™Â ËÈfiÙÂÚ˜ ÎÏÈÓÈΤ˜ ηٷÛÙ¿ÛÂȘ, Ì ·ÓÙ¤Ó‰ÂÈÍË ÛÙË ¯ÔÚ‹ÁËÛË ÙÔ˘ ªª, ÌÔÚ› Ó· ¯ÔÚËÁËı› ·ÛÎÔÚ‚ÈÎfi Ô͇, 200-1.000 mg ËÌÂÚËÛ›ˆ˜ Û 3 ‹ 4 ‰fiÛÂȘ, ̤¯ÚÈ ÙËÓ ‡ÊÂÛË Ù˘ ª∞∞. √È ·ÛıÂÓ›˜ ÌÂ Û˘ÁÁÂÓ‹ ª∞∞ Û˘Ó‹ıˆ˜ ¤¯Ô˘Ó ÚÔÛ·ÚÌÔÛÙ› ÛÙË ¯ÚfiÓÈ· ΢¿ÓˆÛË Î·È ·Ó¤¯ÔÓÙ·È ‰›¯ˆ˜ ÂÌÊ·Ó‹ Û˘ÌÙÒÌ·Ù· Ù· ˘„ËÏ¿ Â›‰· MetHb. ™Â Û˘ÁÁÂÓ‹ ·ÓÂ¿ÚÎÂÈ· Ù˘ cytb5r, Û˘ÓÈÛÙ¿Ù·È ·ÛÎÔÚ‚ÈÎfi Ô͇, ›Ù ÁÈ· ·ÈÛıËÙÈÎÔ‡˜ ÏfiÁÔ˘˜, ÔfiÙ Ϸ̂¿ÓÂÙ·È ÁÈ· Ì·ÎÚfi ¯ÚÔÓÈÎfi ‰È¿ÛÙËÌ·, ›Ù Û ÂÚ›ÙˆÛË Ô˘ ¯ÚÂÈ¿˙ÂÙ·È Ó· ÏËÊı› οÔÈÔ˜ ıÂÚ·¢ÙÈÎfi˜ ÔÍÂȉˆÙÈÎfi˜ ·Ú¿ÁÔÓÙ·˜, ÔfiÙ Ϸ̂¿ÓÂÙ·È ‚Ú·¯˘ÚfiıÂÛÌ·. ∏ ‰ÔÛÔÏÔÁ›· Â›Ó·È 2001.000 mg ËÌÂÚËÛ›ˆ˜ Û 3 ‹ 4 ‰fiÛÂȘ. ¶·ÚÂÓ¤ÚÁÂÈ·

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Ù˘ ¯ÚfiÓÈ·˜ ¯ÔÚ‹ÁËÛ˘ ·ÛÎÔÚ‚ÈÎÔ‡ Ôͤˆ˜ Â›Ó·È Ë ˘ÂÚÔÍ·ÏÔ˘Ú›· Î·È Ë ÓÂÊÚÔÏÈı›·ÛË (6). ∆Ô ·ÛÎÔÚ‚ÈÎfi Ô͇ ÌÔÚ› Ó· ¯ÔÚËÁËı› Û˘Á¯ÚfiÓˆ˜ Ì ªª (100-300 mg ËÌÂÚËÛ›ˆ˜ Û 4 ‰fiÛÂȘ) ·fi ÙÔ ÛÙfiÌ· (7) ‹ Ì ÚÈ‚ÔÊÏ·‚›ÓË (20-50 mg ËÌÂÚËÛ›ˆ˜) ·fi ÙÔ ÛÙfiÌ· (36) ÁÈ· ηχÙÂÚ· ·ÔÙÂϤÛÌ·Ù·. ∏ ª∞∞ ·fi HbM ‰ÂÓ ·ÓÙ·ÔÎÚ›ÓÂÙ·È Ô‡Ù ÛÙÔ ªª Ô‡Ù ÛÙÔ ·ÛÎÔÚ‚ÈÎfi Ô͇ (7). ∂Ó·ÏÏ·ÎÙÈΤ˜ ıÂÚ·›˜ Ì ¡-·ÎÂÙ˘ÏÔ΢ÛÙ½ÓË, Û˘Ó¯‹ ¤Á¯˘ÛË Ì ªª, ·Ó·ÛÙÔÏ›˜ ÙÔ˘ ΢ÙÔ¯ÚÒÌ·ÙÔ˜ ƒ-450, fiˆ˜ Ë ÛÈÌÂÙȉ›ÓË Î·È Ë ÎÂÙÔÎÔÓ·˙fiÏË, Î·È ÙÔÎÔÊÂÚfiÏË ‚Ú›ÛÎÔÓÙ·È ˘fi ¤Ú¢ӷ (2,28).

∂›ÏÔÁÔ˜ ∆Ô ÈÔ ÛËÌ·ÓÙÈÎfi ı¤Ì· ÛÙË ÌÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›· Â›Ó·È Ë ¿ÌÂÛË ·Ó·ÁÓÒÚÈÛ‹ Ù˘, Ô ·ÔÎÏÂÈÛÌfi˜ ηډÈÔÓ¢ÌÔÓÈ΋˜ ÓfiÛÔ˘ Î·È Ë ·ÍÈÔÏfiÁËÛË Ù˘ ‚·Ú‡ÙËÙ·˜, Ô˘ ı· ÎÚ›ÓÂÈ Î·È ÙË ıÂÚ·¢ÙÈ΋ ÚÔÛ¤ÁÁÈÛË. ∞Ó Î·È ˘¿Ú¯Ô˘Ó Û‹ÌÂÚ· ÂȉÈο ‰È·ÁÓˆÛÙÈο ̤۷, ·˘Ù¿ ‰ÂÓ Â›Ó·È Â‡ÎÔÏ· ‰È·ı¤ÛÈÌ·, ÂÓÒ ÙÔ Â˘Ú¤ˆ˜ ¯ÚËÛÈÌÔÔÈÔ‡ÌÂÓÔ Û˘Ì‚·ÙÈÎfi ·ÏÌÈÎfi Ô͇ÌÂÙÚÔ Î·È Ù· ·¤ÚÈ· ·›Ì·ÙÔ˜ ÌÔÚ› Ó· ‰ÒÛÔ˘Ó ÂÛÊ·Ï̤Ó˜ ÂÎÙÈÌ‹ÛÂȘ. ∆Ô ÌÏ ÙÔ˘ ÌÂı˘ÏÂÓ›Ô˘ ·ÔÙÂÏ› ıÂÚ·›· ÚÒÙ˘ ÁÚ·ÌÌ‹˜, ·ÏÏ¿ Ë ·ÔÙ˘¯›· ·Ó·ÁÓÒÚÈÛ˘ Èı·Ó‹˜ ·ÓÂ¿ÚÎÂÈ·˜ G6PD Î·È Ë ˘ÂÚıÂÚ·›· ÌÔÚ› Ó· Ô‰ËÁ‹ÛÔ˘Ó Û ‰˘ÛÌÂÓ‹ ÂͤÏÈÍË. ∏ ¢ڇÙÂÚË ¯Ú‹ÛË ÙÔ˘ CO-Ô͇ÌÂÙÚÔ˘ Î·È ÙÔ˘ ÓÂfiÙÂÚÔ˘ ·ÏÌÈÎÔ‡ Ô͇ÌÂÙÚÔ˘ Î·È Ë ÂÈÎÚ¿ÙËÛË Ó¤ˆÓ, ÂÚÈÛÛfiÙÂÚÔ ·ÛÊ·ÏÒÓ ·ÓÙȉfiÙˆÓ ı· Û˘Ì‚¿ÏÏÔ˘Ó ÛËÌ·ÓÙÈο ÛÙÔ ¯ÂÈÚÈÛÌfi Ù˘ ª∞∞. ∆¤ÏÔ˜, Ë ÌÔÚȷ΋ ·Ó¿Ï˘ÛË Û˘Ì‚¿ÏÏÂÈ ÛÙË ÁÂÓÂÙÈ΋ Û˘Ì‚Ô˘Ï¢ÙÈ΋, Ì ÛÎÔfi ÙËÓ ÂÓË̤ڈÛË Î·È Î·ıÔ‰‹ÁËÛË ÙˆÓ ÁÔÓ¤ˆÓ ÁÈ· ÙȘ Û˘ÁÁÂÓ›˜ ÌÔÚʤ˜ Ù˘ ÌÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›·˜. µÈ‚ÏÈÔÁÚ·Ê›· 1. Ash-Bernal R, Wise R, Wright SM. Acquired methemoglobinemia: a retrospective series of 138 cases at 2 teaching hospitals. Medicine (Baltimore) 2004;83:265-273.

2. Rehman HU. Methemoglobinemia. West J Med 2001;175: 193-196.

3. Wright RO, Lewander WJ, Woolf AD. Methemoglobinemia: etiology, pharmacology, and clinical management.

Ann Emerg Med 1999;34:646-656.

4. Guyton AC. Transport of oxygen and carbon dioxide in the blood and body fluids. In: Guyton AC. Textbook of Medical Physiology. 8th ed. Philadelphia: WB Saunders Company; 1991. p. 433.

5. Mansouri A, Lurie AA. Concise review: methemoglobinemia. Am J Hematol 1993;42:7-12.

6. Verine M, Kumar M, Sarnaik SA, Windle ML, Bergstrom SK, Gross S, Coppes MJ. Methemoglobinemia. eMedicine [Internet]. 2007 April: Webpage: http://www.emedicine.com/ ped/topic1432.htm 7. Percy MJ, McFerran NV, Lappin TR. Disorders of oxidised haemoglobin. Blood Rev 2005;19:61-68.

8. Schiff DE, Roberts WD, Sue YJ. Methemoglobinemia associated with dapsone therapy in a child with pneumonia

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9. Dahshan A, Donovan GK. Severe methemoglobinemia complicating topical benzocaine use during endoscopy in a toddler: a case report and review of the literature. Pediatrics 2006;117:e806-e809.

10. Neuhaeuser C, Weigand N, Schaaf H, Mann V, Christophis P, Howaldt HP, Heckmann M. Postoperative methemoglobinemia following infiltrative lidocaine administration for combined anesthesia in pediatric craniofacial surgery. Paediatr Anaesth 2008;18:125-131.

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12. Gunter JB. Benefit and risks of local anesthetics in infants and children. Paediatr Drugs 2002;4:649-672.

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15. Powlson DS, Addiscott TM, Benjamin N, Cassman KG, de Kok TM, van Grinsven H, L’Hirondel JL, Avery AA, van Kessel C. When does nitrate become a risk for humans? J Environ Qual 2008;37:291-295.

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[Epub ahead of print] 17. Maric P, Ali SS, Heron LG, Rosenfeld D, Greenwood M. Methaemoglobinaemia following ingestion of a commonly available food additive. Med J Aust 2008;188:156-158.

18. Geller RJ, Barthold C, Saiers JA, Hall AH. Pediatric cyanide poisoning: causes, manifestations, management, and unmet needs. Pediatrics 2006;118:2146-2158.

19. Fewtrell L. Drinking-water nitrate, methemoglobinemia, and global burden of disease: a discussion. Environ Health Perspect 2004;112:1371-1374.

20. Avery AA. Infantile methemoglobinemia: reexamining the role of drinking water nitrates. Environ Health Perspect 1999;107:583-586.

21. Weinberger B, Laskin DL, Heck DE, Laskin JD. The toxicology of inhaled nitric oxide. Toxicol Sci 2001;59:5-16.

22. Kedar PS, Warang P, Nadkarni AH, Colah RB, Ghosh K. A novel G143D mutation in the NADH-cytochrome b(5) reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia. Blood Cells Mol Dis 2008;40:323-327.

23. Davis CA, Crowley LJ, Barber MJ. Cytochrome b5 reductase: the roles of the recessive congenital methemoglobinemia mutants P144L, L148P, and R159*. Arch Biochem Biophys 2004;431:233-244.

24. Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM, Beauvais P, Billette de Villemeur T, Vidailhet M, Roze E. Recessive hereditary methemoglobinemia, type II: delineation of the clinical spectrum. Brain 2008; 131:760-761.

25. Percy MJ, Crowley LJ, Roper D, Vulliamy TJ, Layton DM, Barber MJ. Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital ¶·È‰È·ÙÚÈ΋ 2008;71:192-200

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26. Brennan SO, Matthews JR. Hb Auckland [alpha 87(F8) His‡Asn]: a new mutation of the proximal histidine identified by electrospray mass spectrometry. Hemoglobin 1997;21:393-403.

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Mechanisms of production, features, diagnosis and management including the use of methylene blue. Toxicol Rev 2003;22:13-27.

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32. Clifton J 2nd, Leikin JB. Methylene blue. Am J Ther 2003; 10:289-291.

33. Mokhlesi B, Corbridge T. Toxicology in the critically ill patient. Clin Chest Med 2003;24:689-711.

34. Jansen T, Barnung S, Mortensen CR, Jansen EC. Isobutylnitrite-induced methemoglobinemia; treatment with an exchange blood transfusion during hyperbaric oxygenation. Acta Anaesthesiol Scand 2003;47:1300-1301.

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36. Toelle SP, Boltshauser E, Mössner E, Zurbriggen K, Eber S. Severe neurological impairment in hereditary methaemoglobinaemia type 2. Eur J Pediatr 2004;163:207-209.

Quiz 1. º˘ÛÈÔÏÔÁÈο, Ù· Â›‰· Ù˘ ÌÂı·ÈÌÔÛÊ·ÈÚ›Ó˘ ÛÙÔ ·›Ì· ›ӷÈ: ·. >80% Ù˘ ÔÏÈ΋˜ ·ÈÌÔÛÊ·ÈÚ›Ó˘. ‚. 0-2% Ù˘ ÔÏÈ΋˜ ·ÈÌÔÛÊ·ÈÚ›Ó˘. Á. 10-15% Ù˘ ÔÏÈ΋˜ ·ÈÌÔÛÊ·ÈÚ›Ó˘. ‰. 30-50% Ù˘ ÔÏÈ΋˜ ·ÈÌÔÛÊ·ÈÚ›Ó˘.

2. ∏ Â›ÎÙËÙË ÌÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›· Û˘Ì‚·›ÓÂÈ: ·. ‡ÛÙÂÚ· ·fi ˘ÂÚ‚ÔÏÈ΋ ¤ÎıÂÛË Û „˘¯Úfi ÂÚÈ‚¿ÏÏÔÓ. ‚. ‡ÛÙÂÚ· ·fi ˘ÂÚ‚ÔÏÈ΋ Ï‹„Ë ÙÚÔÊ‹˜. Á. ‡ÛÙÂÚ· ·fi ˘ÂÚ‚ÔÏÈ΋ ¤ÎıÂÛË Û ÔÍÂȉˆÙÈÎÔ‡˜ ·Ú¿ÁÔÓÙ˜. ‰ ‡ÛÙÂÚ· ·fi ˘ÂÚ‚ÔÏÈ΋ ¤ÎıÂÛË Û ·Ó·ÁˆÁÈÎÔ‡˜ ·Ú¿ÁÔÓÙ˜.

3. ∏ Û˘ÁÁÂÓ‹˜ ÌÔÚÊ‹ Ù˘ ÌÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›·˜: ·. ·ÔÙÂÏ› ÙÔ Û˘¯ÓfiÙÂÚÔ Ù‡Ô Ù˘ ÓfiÛÔ˘. ‚ ÔÊ›ÏÂÙ·È Û ÌÂÙ·ÏÏ¿ÍÂȘ ÛÙÔ ÁÔÓ›‰ÈÔ Ù˘ ΢Ùfi¯ÚˆÌ·-b5-·Ó·ÁˆÁ¿Û˘. Á. ÔÊ›ÏÂÙ·È Û ÌÂÙ·ÏÏ¿ÍÂȘ ÛÙÔ ÁÔÓ›‰ÈÔ Ù˘ ÊÂÚÚÈÙ›Ó˘. ‰. ‰ÂÓ ÂΉËÏÒÓÂÙ·È Ì ΢¿ÓˆÛË.

4. ™ÙË ‰È·ÁÓˆÛÙÈ΋ ÚÔÛ¤ÁÁÈÛË ÂÓfi˜ ·ÛıÂÓÔ‡˜ Ì ΢¿ÓˆÛË ·fi ÌÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›·: ·. Ë ‰ÔÎÈÌ·Û›· ¯ÔÚ‹ÁËÛ˘ ·˘ÍËÌ¤ÓˆÓ Û˘ÁÎÂÓÙÚÒÛÂˆÓ Ô͢ÁfiÓÔ˘ (˘ÂÚÔÍ›·) ÚÔηÏ› ·‡ÍËÛË ÙÔ˘ satO2 Î·È Ù˘ PO2. ‚. ȉȷ›ÙÂÚ· ·ÍÈfiÈÛÙÔ Â›Ó·È ÙÔ Û˘Ì‚·ÙÈÎfi ·ÏÌÈÎfi Ô͇ÌÂÙÚÔ. Á. Ù· ·¤ÚÈ· ·›Ì·ÙÔ˜ ‰›ÓÔ˘Ó Ì ·ÎÚ›‚ÂÈ· ÙÔ satO2. ‰. Ù· Â›‰· Ù˘ ÌÂı·ÈÌÔÛÊ·ÈÚ›Ó˘ ÛÙÔ ·›Ì· ı¤ÙÔ˘Ó ÙË ‰È¿ÁÓˆÛË.

5. £ÂÚ·¢ÙÈο, ÙÔ ÌÏ ÙÔ˘ ÌÂı˘ÏÂÓ›Ô˘: ·. ÌÔÚ› Ó· ·ÓÙÈηٷÛÙ·ı› ·fi ÙÔ ÌÏ Ù˘ ÙÔÏÔ˘˚‰›Ó˘. ‚. ¯ÔÚËÁÂ›Ù·È Ì ·ÛÊ¿ÏÂÈ· ÛÙËÓ ·ÓÂ¿ÚÎÂÈ· G6PD. Á. ¯ÔÚËÁÂ›Ù·È ¿ÓÙÔÙ ÌÂÙ¿ ÙË ‰ÈÂÓ¤ÚÁÂÈ· ·Ê·ÈÌ·ÍÔÌÂÙ¿ÁÁÈÛ˘. ‰. Â›Ó·È ÙÔ ·ÓÙ›‰ÔÙÔ ÚÒÙ˘ ÁÚ·ÌÌ‹˜, ˘fi ÚÔ¸Ôı¤ÛÂȘ. √È ÛˆÛÙ¤˜ ··ÓÙ‹ÛÂȘ ÛÙË ÛÂÏ›‰· 218 Paediatriki 2008;71:192-200

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¢ÈÂÚ‡ÓËÛË ·È‰ÈÔ‡ Ì ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ ª. ∆˙Ô‡ÊË, ¶. ™È¯ÏÈÌ›ÚË, ∞. ™È·ÌÔÔ‡ÏÔ˘-ª·˘Ú›‰Ô˘ ¶ÂÚ›ÏË„Ë: √È ·‡ÚÂÙÔÈ Û·ÛÌÔ› Â›Ó·È Ë ÈÔ ÎÔÈÓ‹ ·È‰È·ÙÚÈ΋ Ó¢ÚÔÏÔÁÈ΋ ‰È·Ù·Ú·¯‹ Î·È ÙÔ 4-10% ÙˆÓ ·È‰ÈÒÓ ÂÌÊ·Ó›˙ÂÈ ¤Ó·Ó ÙÔ˘Ï¿¯ÈÛÙÔ Û·ÛÌfi ¤ˆ˜ ÙÔ 16Ô ¤ÙÔ˜ Ù˘ ˙ˆ‹˜. √ ÁÈ·ÙÚfi˜ ηÏÂ›Ù·È ·Ú¯Èο Ó· ·ÓÙÈÌÂÙˆ›ÛÂÈ ÙÔ ÂÂÈÛfi‰ÈÔ ÙˆÓ Û·ÛÌÒÓ (Â¿Ó ·˘Ùfi Â›Ó·È Û ÂͤÏÈÍË), ÂÓÒ Û ÂÚ›ÙˆÛË ·ÌÊÈ‚ÔÏ›·˜, fiÛÔÓ ·ÊÔÚ¿ ÙË Ê‡ÛË ÙÔ˘ ÂÂÈÛÔ‰›Ô˘, Ó· ÚԂ› Û ‰È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË, ·Ó¿ÌÂÛ· Û ÂÈÏËÙÈ΋ ÎÚ›ÛË Î·È Û οÔÈ· «ÌË ÂÈÏËÙÈ΋ ·ÚÔ͢ÛÌÈ΋ ‰È·Ù·Ú·¯‹» Ù˘ ·È‰È΋˜ ËÏÈΛ·˜. ™ËÌ·ÓÙÈ΋ ‚Ô‹ıÂÈ· ÛÙËÓ ÚÔÛ¤ÁÁÈÛË ÙÔ˘ ·È‰ÈÔ‡ ÚÔÛʤÚÂÈ ÙÔ ·Ó·Ï˘ÙÈÎfi ÈÛÙÔÚÈÎfi, ÛÂ Û˘Ó¿ÚÙËÛË Ì ÙËÓ Ï‹ÚË ·ÓÙÈÎÂÈÌÂÓÈ΋ ÂͤٷÛË (Ì ȉȷ›ÙÂÚË ¤ÌÊ·ÛË ÛÙÔ Ó¢ÚÈÎfi, ÙÔ Î˘ÎÏÔÊÔÚÈÎfi Û‡ÛÙËÌ· Î·È ÙÔ ‰¤ÚÌ·). ™ÙË Û˘Ó¤¯ÂÈ· Ô ÁÈ·ÙÚfi˜ Ú¤ÂÈ Ó· ‰ÈÂÚ¢ӋÛÂÈ ÙËÓ ˘ÔΛÌÂÓË ·ÈÙÈÔÏÔÁ›· ÙˆÓ Û·ÛÌÒÓ, ÁÈ· ÙÔÓ Î·Ï‡ÙÂÚÔ Î·ıÔÚÈÛÌfi ÙÔ˘ ÎÈÓ‰‡ÓÔ˘ ˘ÔÙÚÔ‹˜ Î·È Ù˘ Ì·ÎÚfi¯ÚÔÓ˘ ÚfiÁÓˆÛ˘ ÙÔ˘ ·ÛıÂÓÔ‡˜. ™ËÌ·ÓÙÈ΋ ‚Ô‹ıÂÈ· Û ·˘Ù‹ ÙËÓ Î·Ù‡ı˘ÓÛË ÚÔÛʤÚÔ˘Ó ÔÈ ‰È¿ÊÔÚ˜ ‰È·ÁÓˆÛÙÈΤ˜ ÂÍÂÙ¿ÛÂȘ. √È ·ÈÌ·ÙÔÏÔÁÈΤ˜ ÂÍÂÙ¿ÛÂȘ, ηıÒ˜ Î·È Ë ÂͤٷÛË ÙÔ˘ ∂¡À, ‰ÂÓ Ú¤ÂÈ Ó· ·ÔÙÂÏÔ‡Ó ÂÍÂÙ¿ÛÂȘ ÚÔ˘Ù›Ó·˜. ∞ÓÙ›ıÂÙ· ÙÔ ∏∂° (ÂÁÚËÁfiÚÛˆ˜ Î·È ‡ÓÔ˘) Â›Ó·È ÂȂ‚ÏË̤ÓË ÂͤٷÛË Î·È Î·Ù¿ ÚÔÙ›ÌËÛË Ú¤ÂÈ Ó· Á›ÓÂÈ Û‡ÓÙÔÌ· ÌÂÙ¿ ÙÔ ÂÂÈÛfi‰ÈÔ, ηıÒ˜ ‚ÔËı¿ ÛÙË ‰È¿ÎÚÈÛË ÂÈÏËÙÈ΋˜ Î·È ÌË ‰È·Ù·Ú·¯‹˜, ÛÙËÓ Úfi‚ÏÂ„Ë ÙÔ˘ ÎÈÓ‰‡ÓÔ˘ ˘ÔÙÚÔ‹˜, ÛÙËÓ Ù·ÍÈÓfiÌËÛË ÙÔ˘ Ù‡Ô˘ ÙÔ˘ Û·ÛÌÔ‡, ÛÙËÓ ·fiÊ·ÛË ÁÈ· ÙËÓ ÂÎÙ¤ÏÂÛË ÂÚ·ÈÙ¤Úˆ ‰È·ÁÓˆÛÙÈÎÒÓ ÂÍÂÙ¿ÛˆÓ, ηıÒ˜ Î·È ÛÙËÓ ¤Ó·ÚÍË ‹ fi¯È ·ÓÙÈÂÈÏËÙÈ΋˜ ·ÁˆÁ‹˜. ∞fi ÙȘ Ó¢ÚÔ·ÂÈÎÔÓÈÛÙÈΤ˜ ÌÂıfi‰Ô˘˜, ÂͤٷÛË ÂÎÏÔÁ‹˜ ·ÔÙÂÏ› Ë ªRI ÂÁÎÂÊ¿ÏÔ˘, ηıÒ˜ ·Ú¤¯ÂÈ ÛËÌ·ÓÙÈΤ˜ ÏËÚÔÊÔڛ˜, Ì ÙËÓ ·Ó¿‰ÂÈÍË ‚Ï·‚ÒÓ, Ô˘ ÌÔÚ› Ó· ÂËÚ¿ÛÔ˘Ó ÙËÓ ÚfiÁÓˆÛË. ∏ ‰ÈÂÓ¤ÚÁÂÈ¿ Ù˘ Û Â›ÁÔ˘Û· ‚¿ÛË, ÁÈ· ÙËÓ ·Ó¿‰ÂÈÍË ÛÔ‚·ÚÒÓ ‚Ï·‚ÒÓ Ô˘ ¯Ú‹˙Ô˘Ó ¿ÌÂÛ˘ ·ÓÙÈÌÂÙÒÈÛ˘ (·ÈÌÔÚÚ·Á›·, ÈÂÛÙÈο Ê·ÈÓfiÌÂÓ·), Ú¤ÂÈ Ó· Á›ÓÂÙ·È Û fiÏ· Ù· ·È‰È¿, ·ÓÂÍ·ÚÙ‹ÙÔ˘ ËÏÈΛ·˜, Ô˘ ÂÌÊ·Ó›˙Ô˘Ó ÂÈ̤ÓÔ˘Û· ·Ú¿Ï˘ÛË Todd’s ‹ ‰ÂÓ Â·Ó¤Ú¯ÔÓÙ·È ÛÂ Ê˘ÛÈÔÏÔÁÈ΋ ηٿÛÙ·ÛË ·ÚÎÂÙ¤˜ ÒÚ˜ ÌÂÙ¿ ÙÔ˘˜ Û·ÛÌÔ‡˜. ™ÙȘ ÂÚÈÙÒÛÂȘ ·˘Ù¤˜, ÂÊfiÛÔÓ ‰ÂÓ Â›Ó·È ÂÊÈÎÙ‹ Ë Ú·ÁÌ·ÙÔÔ›ËÛ‹ Ù˘, Ë ·ÂÈÎfiÓÈÛË Ì CT Â›Ó·È Â·Ú΋˜.

¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋, ∆Ô̤·˜ ÀÁ›·˜ ÙÔ˘ ¶·È‰ÈÔ‡, π·ÙÚÈ΋ ™¯ÔÏ‹ ¶·ÓÂÈÛÙËÌ›Ô˘ πˆ·ÓÓ›ÓˆÓ AÏÏËÏÔÁÚ·Ê›·: ªÂÚfiË ∆˙Ô‡ÊË mtzoufi@uoi.gr ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋, ∆Ô̤·˜ ÀÁ›·˜ ¶·È‰ÈÔ‡, π·ÙÚÈ΋ ™¯ÔÏ‹ ¶·ÓÂÈÛÙËÌ›Ô˘ πˆ·ÓÓ›ÓˆÓ ∆.∫. 451 10, πˆ¿ÓÓÈÓ· ∆.£. 1186

§¤ÍÂȘ ÎÏÂȉȿ: ¶ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ, ·È‰È΋ ËÏÈΛ·, ‰ÈÂÚ‡ÓËÛË.

Evaluating a first non febrile seizure in a child M. Tzoufi, P. Sichlimiri, A. Siamopoulou-Mavridou Abstract: Non febrile seizures constitute the most common paediatric neurological problem, as 410% of children will have at least one episode before the age of 16 years. At the first episode of non febrile seizures, the clinician needs to treat the child (if the episode is in progress) and to decide whether this is epilepsy or a non-epileptic paroxysmal disorder of childhood. Detailed history in combination with a full physical examination (with specific emphasis on the examination of the nervous and cardiovascular system and the skin) have proved to be very helpful in the differential diagnosis.

As a second step, the underlying cause of the seizures needs to be detected for evaluation of the possibility of recurrence and the long term prognosis. Several diagnostic tests can be used. Blood and cerebral spinal fluid (CSF) tests should not be used as a routine, but sleeping and non-sleeping EEG, performed soon after the non febrile seizure episode, is considered to be the appropriate test, as it helps in distinguishing between epileptic and non-epileptic disorders, predicting recurrence and deciding about the type of epilepsy and whether to proceed to additional diagnostic tests or to commence antiepileptic treatment. Brain MRI is the neuroimaging test of choice, as it reveals possible defects of the CNS, important for diagnosis and prognosis. All children, of whatever age, with Todd’s paralysis or prolonged (more than a few hours) recovery time after the convulsions, should have urgent brain MRI, for the early detection and treatment of serious causes (such as CNS haemorrhage or local pressure phenomena). Cerebral CT scan is adequate if MRI is not available.

Department of Paediatrics, Child Health Department, Medical School, University of Ioannnina Correspondence: Meropi Tzoufi mtzoufi@uoi.gr Department of Paediatrics, Child Health Department, Medical School, University of Ioannnina 451 10 Ioannina – Greece P.O. Box 1186

Key words: A first non febrile seizure, childhood, evaluation.

¶·È‰È·ÙÚÈ΋ 2008;71:201-209

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202

ª. ∆˙Ô‡ÊË Î·È Û˘Ó.

∂ÈÛ·ÁˆÁ‹ √È ·‡ÚÂÙÔÈ Û·ÛÌÔ› Â›Ó·È Ë ÈÔ ÎÔÈÓ‹ ·È‰È·ÙÚÈ΋ Ó¢ÚÔÏÔÁÈ΋ ‰È·Ù·Ú·¯‹ Î·È ÙÔ 4-10% ÙˆÓ ·È‰ÈÒÓ ÂÌÊ·Ó›˙ÂÈ ¤Ó·Ó ÙÔ˘Ï¿¯ÈÛÙÔ Û·ÛÌfi ¤ˆ˜ ÙÔ 16Ô ¤ÙÔ˜ Ù˘ ˙ˆ‹˜ (1). ™ÙȘ ∏¶∞, οı ¯ÚfiÓÔ 150.000 ·È‰È¿ ‹ ÙÔ 1-5 % ÙˆÓ ·È‰ÈÒÓ, ÛÙ· ÙÌ‹Ì·Ù· ÂÂÈÁfiÓÙˆÓ, ÂÌÊ·Ó›˙Ô˘Ó ¤Ó· ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ Î·È ·fi ·˘Ù¿ Ù· 30.000 ı· ·Ó·Ù‡ÍÔ˘Ó ÂÈÏË„›· (2). ™Â Â˘Úˆ·˚Τ˜ ÌÂϤÙ˜, Ë Ì¤ÛË ÂÙ‹ÛÈ· Â›ÙˆÛË ·‡ÚÂÙˆÓ Û·ÛÌÒÓ ÔÈΛÏÏÂÈ ·fi 11-23,5/100.000 ¿ÙÔÌ·/¤ÙÔ˜ (πÛÏ·Ó‰›·, √ÏÏ·Ó‰›·) (3,4). ∂ÌÊ·Ó›˙ÂÙ·È ÈÛfiÙÈÌË ÛÙ· ‰˘Ô ʇϷ, Â›Ó·È Ôχ ˘„ËÏfiÙÂÚË ÛÙÔ ÚÒÙÔ ¤ÙÔ˜ Ù˘ ˙ˆ‹˜ (101-233/100.000 ¿ÙÔÌ·/ ¤ÙÔ˜: ∞ÁÁÏ›·, πÛÏ·Ó‰›·, °·ÏÏ›·, πÙ·Ï›·, √ÏÏ·Ó‰›·) Î·È ÁÂÓÈÎfiÙÂÚ· Û ·È‰È¿ <3 ÂÙÒÓ, ÂÓÒ ÂÏ·ÙÙÒÓÂÙ·È ÛÙȘ ÌÂÁ·Ï‡ÙÂÚ˜ ËÏÈ˘ (3,4). ™ÎÔfi˜ ÙÔ˘ ·ÚfiÓÙÔ˜ ¿ÚıÚÔ˘ ›ӷÈ, ·Ó·ÛÎÔÒÓÙ·˜ ΢ڛˆ˜ ÙȘ ‚·ÛÈṲ̂Ó˜ Û ·ԉ›ÍÂȘ ÌÂϤÙ˜ (2,5), ·ÏÏ¿ Î·È ·ÚÎÂÙ¤˜ ¿ÏϘ ÌÂϤÙ˜, Ó· ·Ó·‰Â›ÍÂÈ ÙËÓ ·Í›· ÙÔ˘ ÈÛÙÔÚÈÎÔ‡ Î·È Ù˘ ÎÏÈÓÈ΋˜ ·ÍÈÔÏfiÁËÛ˘, ·ÏÏ¿ ΢ڛˆ˜ Ó· ‰ÒÛÂÈ Û˘ÁÎÂÎÚÈ̤Ó˜ Ô‰ËÁ›Â˜ ÁÈ· ÙȘ ‰È·ÁÓˆÛÙÈΤ˜ ÂÍÂÙ¿ÛÂȘ ÌÂÙ¿ ÙÔ ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ Û ·È‰È¿, ËÏÈΛ·˜ 1 ÌËÓfi˜-21 ÂÙÒÓ. ŒÙÛÈ, ı· ·Ó·ÛÎÔËıÔ‡Ó ÌÂϤÙ˜ Ô˘ ı· ·Ó·Ê¤ÚÔÓÙ·È ÛÙȘ ÂÚÁ·ÛÙËÚȷΤ˜ ÂÍÂÙ¿ÛÂȘ ÛÙÔÓ ÔÚfi, ÙËÓ ÂͤٷÛË ÙÔ˘ ∂¡À, ÙÔ ∏∂°, ÙËÓ ·ÍÔÓÈ΋ ÙÔÌÔÁÚ·Ê›· Î·È ÙË Ì·ÁÓËÙÈ΋ ÙÔÌÔÁÚ·Ê›· ÂÁÎÂÊ¿ÏÔ˘, Ì ÛÙfi¯Ô ÙË ÛˆÛÙ‹ ‰È·ÁÓˆÛÙÈ΋ ÚÔÛ¤ÁÁÈÛË (2). √È Û·ÛÌÔ› Ô˘ ı· Û˘ÌÂÚÈÏËÊıÔ‡Ó ÚÔ˜ Û˘˙‹ÙËÛË ı· Â›Ó·È ÂÛÙÈ·ÎÔ› (·ÏÔ› ‹ Û‡ÓıÂÙÔÈ ÂÛÙÈ·ÎÔ› ‹ ÂÛÙÈ·ÎÔ› Ì ‰Â˘ÙÂÚÔ·ı‹ ÁÂӛ΢ÛË) Î·È ÁÂÓÈÎÂ˘Ì¤ÓÔÈ (ÙÔÓÈÎÔÎÏÔÓÈÎÔ› ‹ ÙÔÓÈÎÔ›) Û·ÛÌÔ›. ¢ÂÓ ı· Û˘ÌÂÚÈÏËÊıÔ‡Ó ·È‰È¿ Ì ‰È·ÁÓˆṲ̂ÓË ÂÈÏË„›·, Ë ÔÔ›· ÔÚ›˙ÂÙ·È ˆ˜ Ë ÂÌÊ¿ÓÈÛË ‰˘Ô ‹ ÂÚÈÛÛfiÙÂÚˆÓ ÂÂÈÛÔ‰›ˆÓ Û·ÛÌÒÓ, ¯ˆÚ›˜ οÔÈÔÓ Û·Ê‹ ÚԉȷıÂÛÈÎfi ·Ú¿ÁÔÓÙ·. ø˜ ÂÎ ÙÔ‡ÙÔ˘, ı· ÂÍ·ÈÚÂıÔ‡Ó ÔÈ Ì˘ÔÎÏÔÓÈÎÔ› Î·È ÔÈ ·ÙÔÓÈÎÔ› Û·ÛÌÔ›, ÂÂȉ‹ Ù˘Èο ‰ÂÓ ·Ó·ÁÓˆÚ›˙ÔÓÙ·È, ·Ú¿ ÌfiÓÔÓ ‡ÛÙÂÚ· ·fi ÔÏÏ·Ï¿ ÂÂÈÛfi‰È·. £· ÂÍ·ÈÚÂıÔ‡Ó, Â›Û˘, ·È‰È¿ Ì ÛËÌ·ÓÙÈÎfi ÙÚ·‡Ì· ÂÁÎÂÊ¿ÏÔ˘, Ô˘ ÚÔËÁ‹ıËΠ¿ÌÂÛ· ÙÔ˘ ÂÂÈÛÔ‰›Ô˘ ÙˆÓ Û·ÛÌÒÓ, Ì ‰È·ÁÓˆṲ̂ÓË Ïԛ̈ÍË ‹ fiÁÎÔ ÙÔ˘ ∫¡™. ∆¤ÏÔ˜, ı· ÂÍ·ÈÚÂıÔ‡Ó ÔÈ ÓÂÔÁÓÈÎÔ› Û·ÛÌÔ› (<28 ËÌÂÚÒÓ) Î·È ÔÈ ˘ÚÂÙÈÎÔ› Û·ÛÌÔ›, ÂÂȉ‹ ÔÈ ‰È·Ù·Ú·¯¤˜ ·˘Ù¤˜ ‰È·ÁÓˆÛÙÈο Î·È ıÂÚ·¢ÙÈο Â›Ó·È ‰È·ÊÔÚÂÙÈΤ˜. ø˜ ÎÚÈÙ‹ÚÈÔ ÚÒÙÔ˘ Û·ÛÌÔ‡ ı· ¯ÚËÛÈÌÔÔÈËı› Ô ÔÚÈÛÌfi˜ Ù˘ ¢ÈÂıÓÔ‡˜ ŒÓˆÛ˘ ηٿ Ù˘ ∂ÈÏË„›·˜ (ILAE), Ô˘ ÂÚÈÏ·Ì‚¿ÓÂÈ ÔÏÏ·ÏÔ‡˜ Û·ÛÌÔ‡˜, ̤۷ Û 24 ÒÚ˜, Ì Â·Ó¿ÎÙËÛË fï˜ Ù˘ Û˘Ó›‰ËÛ˘ ÌÂٷ͇ ÙˆÓ Û·ÛÌÒÓ (6).

Paediatriki 2008;71:201-209

∞. πÛÙÔÚÈÎfi, ÎÏÈÓÈ΋ Î·È ·ÈÙÈÔÏÔÁÈ΋ ÚÔÛ¤ÁÁÈÛË ∆· ·È‰È¿ ÌÔÚ› Ó· ¤ÚıÔ˘Ó ÛÙÔ ÙÌ‹Ì· ÂÂÈÁfiÓÙˆÓ Â›Ù Ì Û·ÛÌÔ‡˜ ›Ù Û ÌÂÙ·ÎÚÈÙÈ΋ Ê¿ÛË Â›Ù Û Ï‹ÚË ÂÁÚ‹ÁÔÚÛË Ì ¤Ó· ÈÛÙÔÚÈÎfi Èı·ÓÔ‡ Û·ÛÌÔ‡, Ô ÔÔ›Ô˜ Û˘Ó¤‚Ë ÒÚ˜, Ë̤Ú˜ ‹ Î·È Â‚‰ÔÌ¿‰Â˜ ÓˆÚ›ÙÂÚ·. ™Â fiϘ ÙȘ ÂÚÈÙÒÛÂȘ (ÛÙËÓ 1Ë ÂÚ›ÙˆÛË, ÌÂÙ¿ ÙË ÛÙ·ıÂÚÔÔ›ËÛË ÙÔ˘ ·È‰ÈÔ‡), Ô ÁÈ·ÙÚfi˜ ı· Ú¤ÂÈ Ó· ÂÎÙÈÌ‹ÛÂÈ ·Ó Ô Û·ÛÌfi˜ Ú¿ÁÌ·ÙÈ Û˘Ó¤‚Ë Î·È ·Ó ‹Ù·Ó ÙÔ ÚÒÙÔ ÂÂÈÛfi‰ÈÔ. ∂›Ó·È ÎÚ›ÛÈÌÔ ÏÔÈfiÓ Ó· ÏËÊı› ¤Ó· Ï‹Ú˜ ÏÂÙÔÌÂÚ¤˜ ÈÛÙÔÚÈÎfi (¶›Ó·Î·˜ 1). ¶Ú¤ÂÈ fï˜ Ó· ÁÓˆÚ›˙Ô˘Ì fiÙÈ Ù· ·È‰È¿ ÌÔÚ› Û˘¯Ó¿ Ó· ÂÌÊ·Ó›˙ÔÓÙ·È Î·È ÌÂ Û˘ÌÙÒÌ·Ù· Ô˘ ÌÈÌÔ‡ÓÙ·È Û·ÛÌÔ‡˜, ¯ˆÚ›˜ ·˘Ù¿ Ó· ·ÓÙÈÚÔÛˆÂ‡Ô˘Ó ÂÈÏËÙÈο Ê·ÈÓfiÌÂÓ· (¶›Ó·Î·˜ 2). √È ‰˘ÛÎÔϛ˜ ÛÙË ‰È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË ÙˆÓ “ÌË ÂÈÏËÙÈÎÒÓ ·ÚÔ͢ÛÌÈÎÒÓ ‰È·Ù·Ú·¯ÒÓ” οÔȘ ÊÔÚ¤˜ Â›Ó·È ¶›Ó·Î·˜ 1. πÛÙÔÚÈÎfi ·È‰ÈÒÓ Ì Û·ÛÌÔ‡˜ ÷ڷÎÙËÚÈÛÙÈο ÙÔ˘ ÂÂÈÛÔ‰›Ô˘ ∂ÈÚfiÛıÂÙÔÈ ·Ú¿ÁÔÓÙ˜ ∏ÏÈΛ·, ·ÙÔÌÈÎfi Î·È ÔÈÎÔÁÂÓÂÈ·Îfi ÈÛÙÔÚÈÎfi, Ó¢ÚÔ·Ó·Ù˘Íȷ΋ ηٿÛÙ·ÛË ∫·Ù¿ÛÙ·ÛË Î·Ù¿ ÙËÓ ¤Ó·ÚÍË ÙÔ˘ ÂÂÈÛÔ‰›Ô˘ ™˘Óı‹Î˜: ÂÁÚ‹ÁÔÚÛË, ‡ÓÔ˜, ·Ê‡ÓÈÛË £¤ÛË: fiÚıÈÔ˜, ηıÈÛÙfi˜, Û ʿÛË ¯·Ï¿ÚˆÛ˘ ‹ Û ¿ÛÎËÛË ¶Èı·ÓÔ› ÚԉȷıÂÛÈÎÔ› ‹ ÂÎÏ˘ÙÈÎÔ› ·Ú¿ÁÔÓÙ˜: ÂÓ·ÏÏ·ÛÛfiÌÂÓ· ÊÒÙ·, ÛÙ¤ÚËÛË ‡ÓÔ˘, Ï‹„Ë ·ÏÎÔfiÏ, stress, ‰È¿‚·ÛÌ· Î.¿. ™˘ÌÙÒÌ·Ù· ηٿ ÙË ‰È¿ÚÎÂÈ· ÙÔ˘ ÂÂÈÛÔ‰›Ô˘ (ictal) ·. ÚÔËÁÔ‡ÓÙ·È: A‡Ú·: ˘ÔÎÂÈÌÂÓÈΤ˜ ÂÚ›ÂÚÁ˜ ·ÈÛı‹ÛÂȘ ™˘ÌÂÚÈÊÔÚ¿: ¿Û¯ËÌË ‰È¿ıÂÛË ‹ Û˘ÌÂÚÈÊÂÚÈÔÏÔÁÈΤ˜ ·ÏÏ·Á¤˜ ºˆÓËÙÈο: ÎÚ·˘Á‹ ‹ ‰‡ÛÓÔÈ·, Ì¤Ú‰ÂÌ· ÙˆÓ Ï¤ÍˆÓ, ‰È·ÛÙÚ‚ψ̤ÓË ÔÌÈÏ›· ‚. ¤ÔÓÙ·È: ∫ÈÓËÙÈο: ÛÙÚÔÊ‹ ÎÂÊ·Ï‹˜ ‹ ·˘¯¤Ó·, ·fiÎÏÈÛË ÙˆÓ Ì·ÙÈÒÓ ‹ ÚÔۋψÛË ‹ ‚ÔÏ‚ÔÛÙÚÔÊ‹, ÂÚ›ÂÚÁ˜ ÛÙ¿ÛÂȘ ÙÔ˘ ÛÒÌ·ÙÔ˜, ·ÎÔ‡ÛȘ Î·È ·ÓÒ̷Ϙ Ú˘ıÌÈΤ˜ ÎÈÓ‹ÛÂȘ ÙˆÓ ÌÂÏÒÓ, ‰˘Ûη̄›·, ·˘ÙÔÌ·ÙÈÛÌÔ› (¿¯ÚËÛÙ˜ Â·Ó·Ï·Ì‚·ÓfiÌÂÓ˜ ÎÈÓ‹ÛÂȘ, fiˆ˜ Ó· ÙÚ·‚¿ÂÈ Ù· ÚÔ‡¯·, Ó· ÁÏ›ÊÂÈ Ù· ¯Â›ÏË) - ÁÂÓÈÎÂ˘Ì¤Ó˜ ‹ ÂÛÙȷΤ˜ ÎÈÓ‹ÛÂȘ ∞Ó·ÓÔ‹: ·ÏÏ·Á‹ ÛÙÔÓ ·Ó·Ó¢ÛÙÈÎfi Ú˘ıÌfi, ·Ó·Ó¢ÛÙÈ΋ ·‡ÛË, ΢¿ÓˆÛË ∞˘ÙfiÓÔÌÔ Ó¢ÚÈÎfi Û‡ÛÙËÌ·: Ì˘‰Ú›·ÛË, ÛÈÂÏfiÚÚÔÈ·, ·ÏÏ·Á‹ ·Ó·Ó¢ÛÙÈÎÔ‡ Î·È Î·Ú‰È·ÎÔ‡ Ú˘ıÌÔ‡, ·ÒÏÂÈ· Ô‡ÚˆÓ Î·È ÎÔÚ¿ÓˆÓ, ˆ¯ÚfiÙËÙ·, ÂÌÂÙfi˜ ∞ÒÏÂÈ· Û˘Ó›‰ËÛ˘ ‹ ·‰˘Ó·Ì›· ηٷÓfiËÛ˘ ‹ ÔÌÈÏ›·˜ ™˘ÌÙÒÌ·Ù· Ô˘ ·ÎÔÏÔ˘ıÔ‡Ó Ùo ÂÂÈÛfi‰ÈÔ (postictal) ∞ÌÓËÛ›· ÙÔ˘ ÁÂÁÔÓfiÙÔ˜, Û‡Á¯˘ÛË, Ï‹ı·ÚÁÔ˜, ˘ÓËÏ›·, ÔÓÔΤʷÏÔ˜ Î·È Ì˘·ÏÁ›Â˜, ·ÚÔ‰È΋ ÂÛÙȷ΋ ·‰˘Ó·Ì›· (¿ÚÂÛË Todd’s), Ó·˘Ù›· ‹ ÂÌÂÙfi˜ ¢È¿ÚÎÂÈ· ÂÂÈÛÔ‰›Ô˘

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·203

203

¶ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ

¶›Ó·Î·˜ 2. ªË ÂÈÏËÙÈΤ˜ ·ÚÔ͢ÛÌÈΤ˜ ‰È·Ù·Ú·¯¤˜ ™˘ÁÎÔ‹

∏ÌÈÎÚ·Ó›·

¢È·Ù·Ú·¯¤˜ ‡ÓÔ˘

æ˘¯ÔÁÂÓ›˜ ‰È·Ù·Ú·¯¤˜ („¢‰ÔÛ·ÛÌÔ›)

¢È·Ù·Ú·¯¤˜ ΛÓËÛ˘

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¡Â˘ÚÔηډÈÔÁÂÓ‹˜: Û‡Ó‰ÚÔÌÔ Î·Ù·ÎÚ¿ÙËÛ˘ ·Ó·ÓÔ‹˜ (΢·ÓˆÙÈ΋, ˆ¯Ú‹), Ù˘È΋ (ÏÈÔı˘ÌÈÎfi ÂÂÈÛfi‰ÈÔ), Û˘ÁÎÔ‹ ·fi ‚‹¯· (Û ·È‰È¿ Ì ¿ÛıÌ·), Û˘ÁÎÔ‹ ÛÙÔ ¯Ù¤ÓÈÛÌ· ∫·Ú‰ÈÔÁÂÓ‹˜: ηډȷΤ˜ ·ÚÚ˘ı̛˜ ‹ ‰˘ÛÚ˘ı̛˜: long QT ‹ Û‡Ó‰ÚÔÌ· Ì long QT, Û‡Ó‰ÚÔÌÔ ÓÔÛÔ‡ÓÙÔ˜ ÊÏ‚ÔÎfiÌ‚Ô˘, ÎÔÏÈÎfi ̷͈̇, ÎÚ›ÛÂȘ ∞dam-Stokes, ÚfiÙˆÛË ÌÈÙÚÔÂȉԇ˜, ηډÈÔÌ˘Ô¿ıÂȘ ∏ÌÈÎÚ·ÓÈΤ˜ ÎÚ›ÛÂȘ Ì ·‡Ú·, ÂÈÂÏÂÁ̤ÓË ËÌÈÎÚ·Ó›·, ÔÍ›· Û˘Á¯˘ÙÈ΋ ËÌÈÎÚ·Ó›·, ËÌÈÎÚ·Ó›· ÛÔÓ‰˘ÏÔ‚·ÛÈÎÔ‡ Û˘ÛÙ‹Ì·ÙÔ˜, ηÏÔ‹ı˘ ·ÚÔ͢ÛÌÈÎfi˜ ›ÏÈÁÁÔ˜, ·ÚÔ͢ÛÌÈÎfi Ú·È‚fiÎÚ·ÓÔ, ËÌÈÎÚ·ÓÈο ÈÛÔ‰‡Ó·Ì· ÀÓ·ÁˆÁÈο ÙÈÓ¿ÁÌ·Ù·, ÂÚÈÔ‰ÈΤ˜ ÎÈÓ‹ÛÂȘ Ô‰ÈÒÓ, Ú˘ıÌÈΤ˜ ÎÈÓËÙÈΤ˜ ‰È·Ù·Ú·¯¤˜ (ÂÚÈÛÙÚÔÊ‹ ÎÂÊ·Ï‹˜, ÛÒÌ·ÙÔ˜, ¯Ù‡ËÌ· ÎÂÊ·Ï‹˜), ‰È·Ù·Ú·¯¤˜ Ù˘ ·Ê‡ÓÈÛ˘ (Ó˘¯ÙÂÚÈÓfi˜ ÙÚfiÌÔ˜, ˘ÓÔ‚·Û›·, ˘ÓÔÏ·Ï›·, Û˘Á¯˘ÙÈ΋ ·Ê‡ÓÈÛË), Ó·ÚÎÔÏË„›· Î·È Ó·ÚÎÔÏËÙÈο Û‡Ó‰ÚÔÌ·, ¿ÓÔȘ ∂ÂÈÛfi‰ÈÔ ·ÓÈÎÔ‡, ÂÂÈÛfi‰È· ÔÚÁ‹˜ (temper tantrum), „¢‰ÔÎÚ›ÛÂȘ ‹ ·ÓÙȉڿÛÂȘ ˘ÛÙÂÚÔÌÂÙ·ÙÚÔ‹˜, ÂÂÈÛfi‰È· ·˘Ó·ÓÈÛÌÔ‡, Û‡Ó‰ÚÔÌÔ Monchausen by proxy ‹ Û‡Ó‰ÚÔÌÔ Meadow’s ∆ÈÎ, ·ÚÔ͢ÛÌÈ΋ ¯ÔÚÂÈÔ·ı¤ÙˆÛË, ÂÂÈÛfi‰È· Ú›ÁÔ˘˜ Î·È Â˘ÂÚÂıÈÛÙfiÙËÙ·, ηÏÔ‹ı˘ Ì˘fiÎÏÔÓÔ˜ Ù˘ ‚ÚÂÊÈ΋˜ ËÏÈΛ·˜, ÙÔÓÈ΋ ·ÓÙ·Ó·ÎÏ·ÛÙÈ΋ ‰Ú·ÛÙËÚÈfiÙËÙ· Î·È ·ÎÔ‡ÛȘ ÎÈÓ‹ÛÂȘ ∆ÂÙ·Ó›· ·fi ·ÏοψÛË, Á·ÛÙÚÔÔÈÛÔÊ·ÁÈ΋ ·ÏÈÓ‰ÚfiÌËÛË (Û‡Ó‰ÚÔÌÔ Sandifer’s), ·ÚÔ‰ÈÎfi ÈÛ¯·ÈÌÈÎfi ÂÂÈÛfi‰ÈÔ, Ê·ÈÔ¯ÚˆÌÔ·Ùو̷

ÛËÌ·ÓÙÈΤ˜, ηıÒ˜ ηӤӷ ÌÂÌÔӈ̤ÓÔ ÎÏÈÓÈÎfi Û‡Ìو̷ ‰ÂÓ ÌÔÚ› Ó· ‰È·¯ˆÚ›ÛÂÈ ¤Ó· Û·ÛÌfi ·fi ¤Ó· ÌË ÂÈÏËÙÈÎfi ÁÂÁÔÓfi˜. ŒÙÛÈ, ÁÈ· ·Ú¿‰ÂÈÁÌ·, ÂÓÒ Ë ‰È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË ÌÂٷ͇ Ó¢ÚÔηډÈÔÁÂÓÔ‡˜ Û˘ÁÎÔ‹˜ Î·È Û·ÛÌÔ‡ ÌÔÚ› Ó· ÂÈÙ¢¯ı› Û˘Ó‹ıˆ˜ ‡ÎÔÏ·, ÏfiÁˆ Ù˘ ‡·Ú͢ ·Ú·ÙÂÙ·Ì¤ÓˆÓ Úfi‰ÚÔÌˆÓ Û˘ÌÙˆÌ¿ÙˆÓ ·fi ÙÔ ·˘ÙfiÓÔÌÔ Ó¢ÚÈÎfi Û‡ÛÙËÌ· Î·È Î˘Ú›ˆ˜ Ù˘ ÌË ‡·Ú͢ ÌÂÙ·ÎÚÈÙÈ΋˜ Û‡Á¯˘Û˘ ÛÙË Û˘ÁÎÔ‹, Â›Ó·È ‰˘Ó·ÙfiÓ Ó· ˘¿ÚÍÔ˘Ó ÚÔ‚Ï‹Ì·Ù· ‰È·ÊÔÚÈ΋˜ ‰È¿ÁÓˆÛ˘, Â¿Ó ÛÙË Ê¿ÛË Ù˘ ·ÒÏÂÈ·˜ Ù˘ Û˘Ó›‰ËÛ˘ ÂÌÊ·ÓÈÛıÔ‡Ó ÌÈÎÚÔ› Ì˘ÔÎÏÔÓÈÎÔ› Û·ÛÌÔ› ‹ ÙÔÓÈÎfi˜ Û·ÛÌfi˜. ∂ÈϤÔÓ, ÔÈ Û·ÛÌÔ› ÙÔ˘ ÎÚÔÙ·ÊÈÎÔ‡ ÏÔ‚Ô‡ ÌÔÚÔ‡Ó Ó· οÓÔ˘Ó ‚Ú·‰˘Î·Ú‰›· ‹ ·Û˘ÛÙÔÏ›·, Û·Ó ÂÈÏËÙÈÎfi Ê·ÈÓfiÌÂÓÔ. °È· ÙÔ ÏfiÁÔ ·˘Ùfi, ¤¯Ô˘Ó ÚÔÙ·ı› ·fi ‰È¿ÊÔÚ˜ ÌÂϤÙ˜ ÂȉÈΤ˜ ‰È·ÁÓˆÛÙÈΤ˜ ÂÍÂÙ¿ÛÂȘ, fiˆ˜ Ë Ì¤ÙÚËÛË ÂÈ¤‰ˆÓ ÚÔÏ·ÎÙ›Ó˘ ‹ ÎÚ·ÙÈÓÈ΋˜ ÎÈÓ¿Û˘ ÛÙÔÓ ÔÚfi, Ô˘ fï˜ ‰ÂÓ Ê·›ÓÂÙ·È fiÙÈ ÌÔÚÔ‡Ó Ó· ‚ÔËı‹ÛÔ˘Ó ·ÍÈfiÈÛÙ· ÛÙÔ ‰È·¯ˆÚÈÛÌfi ηٿ ÙËÓ Î·ıËÌÂÚÈÓ‹ È·ÙÚÈ΋ Ú¿ÍË (2). ¶Èı·ÓfiÓ ÈÔ Î·ÈÓÔ‡ÚÁÈÔÈ ‰Â›ÎÙ˜, fiˆ˜ ÙÔ ÂȉÈÎfi Ó·ÙÚÈÔ˘ÚËÙÈÎfi ÂÙ›‰ÈÔ ÙÔ˘ ÂÁÎÂÊ¿ÏÔ˘, Ó· ÌÔÚ¤ÛÔ˘Ó Ó· ‚ÔËı‹ÛÔ˘Ó ÈÔ ·ÔÙÂÏÂÛÌ·ÙÈο ÛÙÔ Ì¤ÏÏÔÓ (7). ŒÙÛÈ, Ë ‰È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË ı· ÛÙËÚȯı› ΢ڛˆ˜ ÛÙÔ ÈÛÙÔÚÈÎfi (Ì ÚÔ¸fiıÂÛË ÙË ÛˆÛÙ‹ ÁÓÒÛË ÙˆÓ «ÌË ÂÈÏËÙÈÎÒÓ ·ÚÔ͢ÛÌÈÎÒÓ Ê·ÈÓÔ̤ӈӻ), ηıÒ˜ Î·È ÛÙËÓ ÚÔÛÂÎÙÈ΋ ·ÍÈÔÏfiÁËÛË Ù˘ Û˘ÌÂÚÈÊÔÚ¿˜ ÙÔ˘ ·ÛıÂÓÔ‡˜, Î·È Ôχ ÏÈÁfiÙÂÚÔ ÛÙȘ ÂȉÈΤ˜ ‰È·ÁÓˆÛÙÈΤ˜ ÂÍÂÙ¿ÛÂȘ (.¯. Tilt Table test, Video ∏∂°, ÔÏ˘ÁÚ·ÊÈΤ˜ ÌÂϤÙ˜ ‡ÓÔ˘), Ô˘ fï˜ Â›Ó·È ··Ú·›ÙËÙ˜ Û οÔÈ· “‰‡ÛÎÔÏ·” ÂÚÈÛÙ·ÙÈο.

°È· ·Ú¿‰ÂÈÁÌ·, ·ÛıÂÓ›˜, Û˘Ó‹ıˆ˜ ÎÔÚ›ÙÛÈ·, Ì “„¢‰ÔÛ·ÛÌÔ‡˜”, ÌÔÚ› Ó· ÂÌÊ·Ó›˙Ô˘Ó ÈÛ¯˘ÚÒ˜ ÂÓ‰ÂÈÎÙÈο ÎÏÈÓÈο ÛËÌ›· (·Ú·ÙÂٷ̤ÓË ‰È¿ÚÎÂÈ· ÙˆÓ ÙÔÓÈÎÔÎÏÔÓÈÎÒÓ ÎÚ›ÛÂˆÓ >10-35 ÏÂÙ¿, ·˘ÍË̤ÓË Û˘¯ÓfiÙËÙ·: 5-6 ÊÔÚ¤˜/‚‰ÔÌ¿‰·, ‰È·Ù‹ÚËÛË Ù˘ Û˘Ó›‰ËÛ˘ ·Ú¿ Ù· ÙÈÓ¿ÁÌ·Ù· ÙÔ˘ ÛÒÌ·ÙÔ˜, ˘ÂÚ‚ÔÏÈΤ˜ Î·È ·Û‡¯ÚÔÓ˜ ÎÈÓ‹ÛÂȘ, fi¯È ÛÙÂÚÂÔÙ˘›·), ÌÔÚÔ‡Ó fï˜ Ó· ÂÌÊ·Ó›ÛÔ˘Ó Î·È ÂÈÏËÙÈÎÔ‡˜ Û·ÛÌÔ‡˜, Û ÔÛÔÛÙfi 10-20%, Î·È ÂÔ̤ӈ˜ Ó· Â›Ó·È ·Ôχو˜ ·Ó·Áη›· Ë ¯Ú‹ÛË ÙÔ˘ video ∏∂°. ŒÓ· ÚÔÛÂÎÙÈÎfi ÈÛÙÔÚÈÎfi Ú¤ÂÈ Ó· ·ÎÔÏÔ˘ıËı› ·fi ÌÈ· ÏÂÙÔÌÂÚ‹ ·ÓÙÈÎÂÈÌÂÓÈ΋ ÂͤٷÛË Ù˘ ÎÂÊ·Ï‹˜, ÙˆÓ ¿ÎÚˆÓ, ÙÔ˘ ÙÚ·¯‹ÏÔ˘, Ù˘ ÛÔÓ‰˘ÏÈ΋˜ ÛÙ‹Ï˘, ·ÏÏ¿ ΢ڛˆ˜ ÙÔ˘ ‰¤ÚÌ·ÙÔ˜ (ÁÈ· ÙËÓ ‡·ÚÍË “ÛÙÈÁÌ¿ÙˆÓ” ÁÈ· ˘ÔΛÌÂÓ· Ó¢ÚÔ‰ÂÚÌ·ÙÈο ÓÔÛ‹Ì·Ù·), ÙÔ˘ ΢ÎÏÔÊÔÚÈÎÔ‡ Û˘ÛÙ‹Ì·ÙÔ˜ Î·È ‚‚·›ˆ˜ ÙÔ˘ Ó¢ÚÈÎÔ‡ Û˘ÛÙ‹Ì·ÙÔ˜, Ì ¤ÌÊ·ÛË ÛÙËÓ ·Ó·˙‹ÙËÛË ÂÛÙÈ·ÎÒÓ Â˘ÚËÌ¿ÙˆÓ, ÛÂ Û˘Ó‰˘·ÛÌfi Ì ·‰Ú‹ ·Ó·Ù˘Íȷ΋ ÂÎÙ›ÌËÛË Î·È ‚˘ıÔÛÎfiËÛË (¶›Ó·Î·˜ 3). √ Û˘Ó‰˘·ÛÌfi˜ ÙÔ˘ ÈÛÙÔÚÈÎÔ‡ Î·È Ù˘ ·ÓÙÈÎÂÈÌÂÓÈ΋˜ ÂͤٷÛ˘ ÌÔÚ› Ó· ÚÔÛʤÚÂÈ ÙË ‰˘Ó·ÙfiÙËÙ· Ù˘ ‰È¿ÁÓˆÛ˘, Û οÔÈÔ˘˜ ÙÔ˘Ï¿¯ÈÛÙÔÓ ·ÛıÂÓ›˜, ¯ˆÚ›˜ Ó· ¯ÚÂÈ·ÛÙ› ÂÚ·ÈÙ¤Úˆ ‰ÈÂÚ‡ÓËÛË. √ ÂfiÌÂÓÔ˜ ÛÙfi¯Ô˜ Ù˘ ÚÔÛ¤ÁÁÈÛ˘ ÙÔ˘ ÁÈ·ÙÚÔ‡ Â›Ó·È Ó· ÔÚ›ÛÂÈ ÙȘ ·Èٛ˜ ÙˆÓ Û·ÛÌÒÓ, ·ÊÔ‡ οÔȘ ·fi ·˘Ù¤˜ ÌÔÚ› Ó· ··ÈÙÔ‡Ó ¿ÌÂÛË ·ÓÙÈÌÂÙÒÈÛË ‹ Ó· ÚÔÛʤÚÔ˘Ó ÛËÌ·ÓÙÈΤ˜ ÏËÚÔÊÔڛ˜ ÁÈ· ÙËÓ ÚfiÁÓˆÛË ÙÔ˘ ·ÛıÂÓÔ‡˜. √È ÔÍ›˜ ·Èٛ˜ ÙˆÓ Û·ÛÌÒÓ ÌÔÚ› Ó· Â›Ó·È ÂÓ‰ÔÂÁÎÂÊ·ÏÈΤ˜ (.¯. ·fiÛÙËÌ·, ÙÚ·‡Ì· Î.¿.) ‹ Â͈ÂÁÎÂÊ·ÏÈΤ˜ (.¯. ˘ÔÁÏ˘Î·ÈÌ›·, ˘·Û‚ÂÛÙÈ·ÈÌ›·, ˘ÔÓ·ÙÚÈ·ÈÌ›·). ¶ÚfiÎÂÈÙ·È ÁÈ· ÙÔ˘˜ ÔÍ›˜ ¶·È‰È·ÙÚÈ΋ 2008;71:201-209

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·204

204

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¶›Ó·Î·˜ 3. ∞ÓÙÈÎÂÈÌÂÓÈ΋ ÂͤٷÛË ™‡ÛÙËÌ·

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¶ÂÚ›ÌÂÙÚÔ˜ ™¯‹Ì· ª¤ÁÂıÔ˜ Î·È ÌÔÚÊ‹ ÚfiÛıÈ·˜ ËÁ‹˜

ª·ÎÚÔÎÂÊ·Ï›· - ªÈÎÚÔÎÂÊ·Ï›· ¶˘ÚÁÔÎÂÊ·Ï›·, ÚÔ¤¯ˆÓ ̤وÔ ªÂÁ¿ÏË/ÌÈÎÚ‹ (˘‰ÚÔΤʷÏÔ˜/ ÎÚ·ÓÈÔÛ˘ÓfiÛÙˆÛË) Î·È ÚÔ¤¯Ô˘Û·/ÂÈÛ¤¯Ô˘Û· (·˘ÍË̤ÓË ÂÓ‰ÔÎÚ¿ÓÈ· ›ÂÛË/·Ê˘‰¿ÙˆÛË) ∂ÁÎÂÊ·ÏÈ΋ ·ÈÌÔÚÚ·Á›· ¡Â˘ÚÔ˚ӈ̿وÛË π Î·È ππ ¡fiÛÔ˜ McCune-Albright √˙҉˘ ÛÎÏ‹Ú˘ÓÛË ¡fiÛÔ˜ Sturge-Weber ™‡Ó‰ÚÔÌÔ DiGeorge ∆ÚȯÔÔÏ˘‰˘ÛÙÚÔÊ›· ¶ÚfiÙˆÛË ÌÈÙÚÔÂȉԇ˜, ηډȷΤ˜ ‰˘ÛÚ˘ı̛˜ πÛıÌÈ΋ ÛÙ¤ÓˆÛË ·ÔÚÙ‹˜ ∞ÚÙËÚȷ΋ ˘¤ÚÙ·ÛË ¡ÔÛ‹Ì·Ù· ÂÓ·fiıÂÛ˘ ∫˘Ú›ˆ˜ ¤ÏÂÁ¯Ô˜ ÁÈ· ÂÛÙȷο Â˘Ú‹Ì·Ù· °ÂÓÈÎfiÙÂÚË ‰˘ÛÏÂÈÙÔ˘ÚÁ›· ÙÔ˘ ¡™ (∂¶, ¡À Î.¿.) √›‰ËÌ· ıËÏÒÓ ‹ ·ÈÌÔÚÚ·Á›Â˜ ·ÌÊÈ‚ÏËÛÙÚÔÂȉԇ˜ (fiÁÎÔ˜ ‹ ηÎÔÔ›ËÛË)

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ÀÔ¯fiÓ‰ÚÈ· ¡Â˘ÚÈÎfi Û‡ÛÙËÌ·

⁄·ÚÍË ·˘¯ÂÓÈ΋˜ ‰˘Ûη̄›·˜ ∫·ÊÂÁ·Ï·ÎÙfi¯ÚÔ˜ ÎËÏ›‰Â˜ - ÓÂ˘Ú›ÓˆÌ· - ʷΛ‰ˆÛË ∞ԯڈ̷ÙÈṲ̂Ó˜ ÎËÏ›‰Â˜ & ÛÌËÁÌ·ÙÔÚÚÔ˚Îfi ·‰¤ÓˆÌ· ™ËÚ·ÁÁÒ‰Ë ·ÈÌ·ÁÁÂÈÒÌ·Ù· ª˘ÎËÙÈ·ÛÈ΋ Ïԛ̈ÍË Ó˘¯ÈÒÓ ∂‡ıÚ·˘ÛÙ· Í·Óı¿ Ì·ÏÏÈ¿ ∫·Ú‰È·Îfi˜ Ú˘ıÌfi˜ - ÙfiÓÔÈ - Ê˘Û‹Ì·Ù· ™Ê‡ÍÂȘ Û ¿Óˆ & οو ¿ÎÚ· ∞¶ Û ¿Óˆ & οو ¿ÎÚ· √ÚÁ·ÓÔÌÂÁ·Ï›· ¶Ï‹Ú˘ Ó¢ÚÔÏÔÁÈ΋ ÂͤٷÛË ∞‰Ú‹ ·Ó·Ù˘Íȷ΋ ÂͤٷÛË µ˘ıÔÛÎfiËÛË

Û˘Ìو̷ÙÈÎÔ‡˜ Û·ÛÌÔ‡˜, ÔÈ ÔÔ›ÔÈ ÚÔ·ÙÔ˘Ó “ˆ˜ ·ÔÙ¤ÏÂÛÌ· Ì›· ÔÍ›·˜ ηٿÛÙ·Û˘, Û ÛÙÂÓ‹ ¯ÚÔÓÈ΋ Û˘Û¯¤ÙÈÛË Ì ÌÈ· ·ÚÔ‰È΋ ÚÔÛ‚ÔÏ‹ ÙÔ˘ ÎÂÓÙÚÈÎÔ‡ Ó¢ÚÈÎÔ‡ Û˘ÛÙ‹Ì·ÙÔ˜ (∫¡™)” Î·È ÙˆÓ ÔÔ›ˆÓ Ë ÛˆÛÙ‹ ·ÓÙÈÌÂÙÒÈÛË (Î·È Ì ÙËÓ ·ÚÔ‰È΋ ¯ÔÚ‹ÁËÛË ·ÓÙÈÂÈÏËÙÈÎÒÓ Ê·Ú̿ΈÓ) ·ÔÙÚ¤ÂÈ ÙËÓ ÂÌÊ¿ÓÈÛË ÌfiÓÈÌˆÓ Ó¢ÚÔÏÔÁÈÎÒÓ ˘ÔÏÂÈÌÌ¿ÙˆÓ Î·È Û˘Ó·ÎfiÏÔ˘ı˘ ÂÈÏË„›·˜ (8,9). √È ÈÔ Û˘¯Ó¤˜ ·Èٛ˜ ÙÔ˘˜ ÛÙË ‚ÚÂÊÈ΋ Î·È ÙËÓ ·È‰È΋ ËÏÈΛ· Â›Ó·È Ë ·Ê˘‰¿ÙˆÛË, Ô˘ Û¯ÂÙ›˙ÂÙ·È Ì ÔÍ›· ‰È¿ÚÚÔÈ· ¯ˆÚ›˜ ˘ÚÂÙfi, Ë Î¿ÎˆÛË Ù˘ ÎÂÊ·Ï‹˜ Î·È Ë ÙÔÍÈ΋ ÂÁÎÂÊ·ÏÔ¿ıÂÈ·, ÂÓÒ ÛÙËÓ ÂÊË‚È΋ ËÏÈΛ· Ë ¯Ú‹ÛË ÙˆÓ ÙÔÍÈÎÒÓ Ô˘ÛÈÒÓ Î·È Ë Î¿ÎˆÛË Ù˘ ÎÂÊ·Ï‹˜. À¿Ú¯Ô˘Ó fï˜ Î·È ¿ÏϘ ÏÈÁfiÙÂÚÔ Û˘¯Ó¤˜ ·Èٛ˜, ÔÈ Ôԛ˜ ·ÚÔ˘ÛÈ¿˙ÔÓÙ·È ÛÙÔÓ ¶›Ó·Î· 4. ∂¿Ó Ë ÔÍ›· ÂÁÎÂÊ·ÏÈ΋ ÚÔÛ‚ÔÏ‹ ·ÔÎÏÂÈÛı›, ÙfiÙ ÙÔ ÂfiÌÂÓÔ ‚‹Ì· Â›Ó·È Ó· ·ÍÈÔÏÔÁËı› ·Ó Ô ·ÛıÂÓ‹˜ ¤¯ÂÈ ¤Ó· ÂÈÏËÙÈÎfi Û‡Ó‰ÚÔÌÔ ‹ ÓfiÛÔ (10), Ô˘ ÌÔÚ› Ó· Â›Ó·È È‰ÈÔ·ı‹˜, Û˘Ìو̷ÙÈ΋ ‹ ÎÚ˘„ÈÁÂÓ‹˜ (Èı·ÓfiÓ Û˘Ìو̷ÙÈ΋) ÂÈÏË„›· (¶›Ó·Î·˜ 5). ∏ ȉÈÔ·ı‹˜ ÂÈÏË„›· Û˘Ó›ÛÙ·Ù·È ÛÙËÓ ‡·ÚÍË ÌÂÌÔӈ̤Ó˘ ÂÈÏË„›·˜, ¯ˆÚ›˜ ‰ÔÌÈ΋ ÂÁÎÂÊ·ÏÈ΋ ·ıÔÏÔÁ›· ‹ ¿ÏÏ· ·ÓÒÌ·Ï· Ó¢ÚÔÏÔÁÈο ÛËÌ›· Î·È Û˘ÌÙÒÌ·Ù·, ÂÓÒ ¤¯ÂÈ Û˘Ó‹ıˆ˜ ÁÂÓÂÙÈ΋ ‚¿ÛË Î·È Â›Ó·È ËÏÈÎÈÔÂÍ·ÚÙÒÌÂÓË. ∆· Û˘Ìو̷ÙÈο ÂÈÏËÙÈο Û‡Ó‰ÚÔÌ· Â›Ó·È ÙÔ ·ÔÙ¤ÏÂÛÌ· ÁÓˆÛÙ‹˜ ‹ ·ÓȯÓ‡ÛÈÌ˘ ·ÓˆÌ·Ï›·˜ ‹ ‚Ï¿‚˘ ÙÔ˘ ∫¡™, ÛÙ·ÙÈ΋˜ ‹ ÂÍÂÏÈÛÛfiÌÂÓ˘. ∆· ÎÚ˘„ÈÁÂÓ‹ ÂÈÏËÙÈο Û‡Ó‰ÚÔÌ· Â›Ó·È Èı·Ó‹ Û˘Ìو̷ÙÈ΋ ÂÈÏË„›·, ¯ˆÚ›˜ fï˜ ·ÓȯÓ‡ÛÈÌË ·ıÔÏÔÁ›· (10) (¶›Ó·Î·˜ 5).

Paediatriki 2008;71:201-209

µ. ¢È·ÁÓˆÛÙÈΤ˜ ÂÍÂÙ¿ÛÂȘ I. ∂ÚÁ·ÛÙËÚÈ·Îfi˜ ¤ÏÂÁ¯Ô˜ ·. ∞ÈÌ·ÙÔÏÔÁÈΤ˜ ÂÍÂÙ¿ÛÂȘ: √È ·ÈÌ·ÙÔÏÔÁÈΤ˜ ÂÍÂÙ¿ÛÂȘ ·ÔÙÂÏÔ‡Ó Û‡ÓËı˜ ̤ÚÔ˜ Ù˘ ‰ÈÂÚ‡ÓËÛ˘ ÙˆÓ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ Î·È ÂÚÈÏ·Ì‚¿ÓÔ˘Ó ÁÏ˘Îfi˙Ë, Ô˘Ú›·, ÎÚ·ÙÈÓ›ÓË, οÏÈÔ, Ó¿ÙÚÈÔ, ·Û‚¤ÛÙÈÔ, Ì·ÁÓ‹ÛÈÔ, ÙÚ·ÓÛ·ÌÈÓ¿Û˜, ·¤ÚÈ· ·›Ì·ÙÔ˜ Î·È ÙÔÍÈÎÔÏÔÁÈΤ˜ ÂÍÂÙ¿ÛÂȘ. ™·Ê›˜ ηÙ¢ı˘ÓÙ‹ÚȘ ÁÚ·Ì̤˜, fiÛÔÓ ·ÊÔÚ¿ ÙËÓ Ù¤ÏÂÛ‹ ÙÔ˘˜, ÌÂÙ¿ ÙÔ ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ, ‰ÂÓ ˘¿Ú¯Ô˘Ó (11). øÛÙfiÛÔ, ÂÂȉ‹ ·fi ÙȘ ˆ˜ ÙÒÚ· ÁÂÓfiÌÂÓ˜ ÌÂϤÙ˜ (Ï›Á˜ ÛÙÔÓ ·ÚÈıÌfi Î·È ÂÚȯfiÌÂÓÔ) ıÂÙÈο ÎÏÈÓÈο ÛËÌ·ÓÙÈο ÂÚÁ·ÛÙËÚȷο Â˘Ú‹Ì·Ù· ÂÌÊ·Ó›˙ÔÓÙ·È ÌfiÓÔ ÛÙÔ 28% (¤ˆ˜ Î·È 13% fiÙ·Ó Û˘ÌÂÚÈÏ·Ì‚¿ÓÔÓÙ·È Î·È ÓÂÔÁÓ¿) (11), Ë ∞ÌÂÚÈοÓÈÎË ¶·È‰È·ÙÚÈ΋ ∂Ù·ÈÚ›· ÚÔÙ›ÓÂÈ Ô ÂÚÁ·ÛÙËÚÈ·Îfi˜ ¤ÏÂÁ¯Ô˜ Ó· ÌËÓ Á›ÓÂÙ·È ˆ˜ ÚÔ˘Ù›Ó· (2). ∂›Ó·È fï˜ ÂȂ‚ÏË̤ÓÔ Ó· Á›ÓÔÓÙ·È Û ÂȉÈΤ˜ ÔÌ¿‰Â˜ ·ÛıÂÓÒÓ, Ô˘ ¤¯Ô˘Ó ÌÂÁ·Ï‡ÙÂÚË Èı·ÓfiÙËÙ· Ó· ÂÌÊ·Ó›ÛÔ˘Ó ÎÏÈÓÈο ·ÍÈÔÛËÌ›ˆÙ˜ ‰È·Ù·Ú·¯¤˜ Î·È ·˘Ù¤˜ ›ӷÈ: 1. ¶·È‰È¿ Ì ˘ÔΛÌÂÓÔ ÓfiÛËÌ· ‹ ‚·Ú‡ ÈÛÙÔÚÈÎfi Ô˘ Ó· ·Ú·¤ÌÂÈ Û ˘ÔΛÌÂÓË ‰È·Ù·Ú·¯‹ : [.¯. ÁÏ˘Îfi˙Ë: ˘ÔÁÏ˘Î·ÈÌ›· (۷ί·Ú҉˘ ‰È·‚‹Ù˘), Ó¿ÙÚÈÔ: ˘ÔÓ·ÙÚÈ·ÈÌ›· (‰È¿ÚÚÔȘ, ·Ê˘‰¿ÙˆÛË, ÈÓÔ΢ÛÙÈ΋ ÓfiÛÔ˜ Î.Ï.), ·Û‚¤ÛÙÈÔ: ˘·Û‚ÂÛÙÈ·ÈÌ›· (˘Ô·Ú·ı˘ÚÂÔÂȉÈÛÌfi˜, Ú·¯›Ùȉ˜, Û‡Ó‰ÚÔÌÔ DiGeorge Î.Ï.), Ì·ÁÓ‹ÛÈÔ: ˘ÔÌ·ÁÓËÛÈ·ÈÌ›· (Û˘ÁÁÂÓ›˜ ‰È·Ù·Ú·¯¤˜ ) Î.¿.].

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·205

205

¶ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ

¶›Ó·Î·˜ 4. √È ÈÔ Û˘¯Ó¤˜ ·ÈÙÈÔÏÔÁ›Â˜ “ÔͤˆÓ Û˘Ìو̷ÙÈÎÒÓ Û·ÛÌÒÓ” ∏ÏÂÎÙÚÔÏ˘ÙÈΤ˜ ‰È·Ù·Ú·¯¤˜

™˘ÛÙËÌ·ÙÈΤ˜ ‰È·Ù·Ú·¯¤˜

∞ÁÁÂȷο ·›ÙÈ·

§‹„Ë/ÛÙ¤ÚËÛË ÙÔÍÈÎÒÓ Ô˘ÛÈÒÓ ∂Ó‰ÔÁÂÓ›˜ ‰È·Ù·Ú·¯¤˜ ÙÔ˘ ÌÂÙ·‚ÔÏÈÛÌÔ‡

∂ÁÎÂÊ·ÏÈΤ˜ ηÎÒÛÂȘ ÈÚÔηٷÎÙËÙÈΤ˜ ÂÍÂÚÁ·Û›Â˜ ÂÁÎÂÊ¿ÏÔ˘

2. BÚ¤ÊË, ȉ›ˆ˜ Ù· ÌÈÎÚfiÙÂÚ· ÙˆÓ 6 ÌËÓÒÓ: (ıÂÙÈÎfi˜ ÂÚÁ·ÛÙËÚÈ·Îfi˜ ¤ÏÂÁ¯Ô˜ ÛÙÔ 70%, ¯ˆÚ›˜ Ó· ˘¿Ú¯ÂÈ ıÂÙÈÎfi ÈÛÙÔÚÈÎfi) (11).

3. ª·ÎÚ¿˜ ‰È·ÚΛ·˜ Û·ÛÌÔ› ‹ status: (ıÂÙÈÎfi˜ ÂÚÁ·ÛÙËÚÈ·Îfi˜ ¤ÏÂÁ¯Ô˜ ÛÙÔ 43%, Û˘Ó‹ıˆ˜ ˘ÔÓ·ÙÚÈ·ÈÌ›· ‹ ˘·Û‚ÂÛÙÈ·ÈÌ›·, ȉȷ›ÙÂÚ· ÛÙË ‚ÚÂÊÈ΋ ËÏÈΛ·) (11,12,13).

4. ÀÔıÂÚÌ›· (£ <36,5oC): (Û˘Ó˘¿Ú¯ÂÈ Û˘Ó‹ıˆ˜ Ì ÙËÓ ˘ÔÓ·ÙÚÈ·ÈÌ›· ÛÙÔ 80-87% ÛÙË ‚ÚÂÊÈ΋ ËÏÈΛ·) (11,14). ∂ÈÚfiÛıÂÙ·, ÚÔÙ›ÓÂÙ·È Ó· Á›ÓÂÙ·È Ì¤ÙÚËÛË Ù˘ ˘ÚȉÔ͛Ӣ (µ12), ÙÔ˘ Ê˘ÏÏÈÎÔ‡ ÔͤԘ Î·È Ù˘ ‚ÈÔÙ›Ó˘, Û Ôχ ÌÈÎÚ¿ Ó¢ÚÔÏÔÁÈο ˘ÁÈ‹ ‚Ú¤ÊË, ÂÊfiÛÔÓ fï˜ ¤¯Ô˘Ó ·ÔÎÏÂÈÛı› ¿ÏÏÔÈ ·ÈÙÈÔÏÔÁÈÎÔ› ·Ú¿ÁÔÓÙ˜, ·ÊÔ‡ Û·ÓÈfiٷٷ ÔÈ ‰È·Ù·Ú·¯¤˜ ÙˆÓ ·Ú·ÁfiÓÙˆÓ ·˘ÙÒÓ ÚÔ‚¿ÏÏÔ˘Ó ˆ˜ ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ Î·È Â›Ó·È Â‡ÎÔÏ· ıÂÚ·‡ÛÈ̘ (2,15). ∆¤ÏÔ˜, ÈÔ ÏÂÙÔÌÂÚ‹˜ ÂÍÂȉÈÎÂ˘Ì¤ÓÔ˜ ¤ÏÂÁ¯Ô˜ ÁÈ· Ó¢ÚÔÌÂÙ·‚ÔÏÈο Î·È ÌÈÙÔ¯ÔÓ‰Úȷο ÓÔÛ‹Ì·Ù·, fiˆ˜ ·ÌÈÓÔÁÚ¿ÌÌÌ·Ù· ÔÚÔ‡ Î·È Ô‡ÚˆÓ, ·Ì̈ӛ·, ÎÂÙÔÓÔ˘Ú›·, Á·Ï·ÎÙÈÎfi Ô͇ Û ·›Ì· Î·È ∂¡À (11), ÔÚÁ·ÓÈο Ôͤ· Ô‡ÚˆÓ, ÂÓ˙˘Ì·ÙÔÏÔÁÈΤ˜ ÂÍÂÙ¿ÛÂȘ, ¤¯ÂÈ ÓfiËÌ· Ó· Á›ÓÂÙ·È ÌfiÓÔ Û ‚Ú¤ÊË Î·È ·È‰È¿, Ì ۇÓıÂÙ˜ Ó¢ÚÔÏÔÁÈΤ˜ ÂÈÎfiÓ˜ ¤Ú·Ó ÙˆÓ Û·ÛÌÒÓ (Û·ÛÌÔ› ÛÔ‚·ÚÔ› Î·È ÂÈ̤ÓÔÓÙ˜ Û ¤‰·ÊÔ˜ ‚·ÚÈ¿˜ Ó¢ÚÔÏÔÁÈ΋˜ ‚Ï¿‚˘ ‹ ·ÊÔ‡ ¤¯ÂÈ ÂÁηٷÛÙ·ı› ÎÒÌ· ‹ ˘ÔÁÏ˘Î·ÈÌ›· ‹ ‚Ú¤ÊË Ì ·ÓÒÌ·ÏÔ Ì˘˚Îfi ÙfiÓÔ, Â͈˘Ú·ÌȉÈΤ˜ ÎÈÓ‹ÛÂȘ Î·È ‰È·Ù·Ú·¯¤˜ ÙÔ˘ ·˘ÙÔÓfiÌÔ˘ Ó¢ÚÈÎÔ‡ Û˘ÛÙ‹Ì·ÙÔ˜) ‹ Ì ÔÏ˘ÔÚÁ·ÓÈ΋ Û˘ÌÌÂÙÔ¯‹ ‹ fiÙ·Ó ˘¿Ú¯ÂÈ ıÂÙÈÎfi ÔÈÎÔÁÂÓÂÈ·Îfi

ÀÔÓ·ÙÚÈ·ÈÌ›·, ˘ÂÚÓ·ÙÚÈ·ÈÌ›· À·Û‚ÂÛÙÈ·ÈÌ›·, ˘ÔÌ·ÁÓËÛÈ·ÈÌ›· ÀÔÁÏ˘Î·ÈÌ›· ¢ËÏËÙËÚ›·ÛË Ì ÓÂÚfi XÚfiÓÈ· ÓÂÊÚÈ΋ ·ÓÂ¿ÚÎÂÈ· ∏·ÙÈ΋ ÂÁÎÂÊ·ÏÔ¿ıÂÈ· ™‡Ó‰ÚÔÌÔ Reye √˘Ú·ÈÌÈÎfi ·ÈÌÔÏ˘ÙÈÎfi Û‡Ó‰ÚÔÌÔ ∂ÁÎÂÊ·ÏÔ¿ıÂÈ· ·fi ÌfiÏ˘‚‰Ô ∞ÁÁÂÈ·Îfi ÂÁÎÂÊ·ÏÈÎfi ÂÂÈÛfi‰ÈÔ ÀÂÚÙ·ÛÈ΋ ÂÁÎÂÊ·ÏÔ¿ıÂÈ· ∂ÎÏ·Ì„›· (Û ÂÊ‹‚Ô˘˜) º¿Ú̷η, ·ÏÎÔfiÏ, Ó·ÚΈÙÈο ŒÏÏÂÈ„Ë ˘ÚȉÔ͛Ӣ, Ê˘ÏÏÈÎÔ‡ ÔͤԘ, µ12, ¯·ÏÎÔ‡ ŒÏÏÂÈ„Ë ¯·ÏÎÔ‡ ¢È·Ù·Ú·¯¤˜ ÌÂÙ·‚ÔÏÈÛÌÔ‡ ·ÌÈÓÔͤˆÓ Î·È ÔÚÁ·ÓÈÎÒÓ ÔͤˆÓ °·Ï·ÎÙÔ˙·ÈÌ›·, ‰˘Û·ÓÂÍ›· ÛÙË ÊÚÔ˘ÎÙfi˙Ë ¢È·Ù·Ú·¯¤˜ Ì·ÎÚ¿˜ ·Ï‡Ûˆ˜ ÏÈ·ÚÒÓ ÔͤˆÓ §˘ÛÔÛˆÌÈο ·ıÚÔÈÛÙÈο ÓÔÛ‹Ì·Ù· ¶ÔÚÊ˘Ú›· ÀÔÛÎÏËÚ›‰È· ‹ ¿ÏÏ· ·ÈÌ·ÙÒÌ·Ù·, ÂÁÎÂÊ·ÏÈ΋ ıÏ¿ÛË ŸÁÎÔÈ ∫¡™, ·fiÛÙËÌ·, ·Ú·ÛÈÙÒÛÂȘ

ÈÛÙÔÚÈÎfi (Ó¢ÚÔÌÂÙ·‚ÔÏÈÎfi ÓfiÛËÌ·, ·ÈÊÓ›‰ÈÔ˜ ‚ÚÂÊÈÎfi˜ ı¿Ó·ÙÔ˜) (16,17). ‚. ∂ͤٷÛË ÙÔ˘ ∂¡À: ¢ÂÓ Ú¤ÂÈ Ó· ·ÔÙÂÏ› ÂͤٷÛË ÚÔ˘Ù›Ó·˜. ∂Í·›ÚÂÛË ·ÔÙÂÏÔ‡Ó (2,18): 1. Ù· ‚Ú¤ÊË <6 ÌËÓÒÓ, 2. ÙÔ ÂËÚ·Ṳ̂ÓÔ Â›Â‰Ô Û˘Ó›‰ËÛ˘ Î·È Ë ·Ú·ÙÂٷ̤ÓË ÌÂÙ·ÎÚÈÙÈ΋ Ê¿ÛË, 3. ÔÈ ‰È·Ù·Ú·¯¤˜ Û˘ÌÂÚÈÊÔÚ¿˜, 4. ÙÔ ÈÛÙÔÚÈÎfi ·ÓÔÛÔηٷÛÙÔÏ‹˜, 5. ÙÔ ÈÛÙÔÚÈÎfi HIV Ïԛ̈͢, 6. ÙÔ ÈÛÙÔÚÈÎfi ˘ÚÂÙÔ‡ ‹ Ïԛ̈͢. ™Â ÂÚ›ÙˆÛË ˘Ô„›·˜ ·˘ÍË̤Ó˘ ÂÓ‰ÔÎÚ¿ÓÈ·˜ ›ÂÛ˘, ı· Ú¤ÂÈ Ó· ÚÔËÁÂ›Ù·È Ó¢ÚÔ·ÂÈÎfiÓÈÛË. ™Â ÂÚ›ÙˆÛË Ô˘ ˘Ô„È·˙fiÌ·ÛÙ Ó¢ÚÔÌÂÙ·‚ÔÏÈÎfi ÓfiÛËÌ· (19), ÛÙȘ ÂȉÈΤ˜ ηÙËÁÔڛ˜ ·È‰ÈÒÓ Ô˘ ÚԷӷʤÚıËηÓ, Ë ÂÎÙ›ÌËÛË ı· Ú¤ÂÈ Ó· ÂÚÈÏ·Ì‚¿ÓÂÈ ÔÛÔÙÈÎfi ÚÔÛ‰ÈÔÚÈÛÌfi Á·Ï·ÎÙÈÎÔ‡, ˘ÚÔÛÙ·Ê˘ÏÈÎÔ‡ ÔͤԘ Î·È ·ÌÈÓÔͤˆÓ, ηıÒ˜ Î·È Î‡ÙÙ·Ú·-ÁÏ˘Îfi˙Ë-ÚˆÙ½ÓË-ÎÏ¿ÛÂȘ ·ÓÔÛÔÛÊ·ÈÚÈÓÒÓ, ÂȉÈΤ˜ ·ÓÔÛÔÛÊ·ÈÚ›Ó˜ Î·È Â›Û˘ GABA Î·È ‚ÈÔÁÂÓ›˜ ÌÔÓԷ̛Ә, Û ‚·ÚÈ¿ ‚ÚÂÊÈ΋ ÂÁÎÂÊ·ÏÔ¿ıÂÈ·. πI. ∏ÏÂÎÙÚÔÂÁÎÂÊ·ÏÔÁÚ¿ÊËÌ· (∏∂°) ∆Ô ∏∂° ·ÔÙÂÏ› ÙËÓ ÈÔ ·Ï‹, ·ÓÒ‰˘ÓË Î·È ·Ú¤¯Ô˘Û· ÛËÌ·ÓÙÈΤ˜ ÏËÚÔÊÔڛ˜ ÂͤٷÛË Î·È Ú¤ÂÈ Ó· Á›ÓÂÙ·È Î·Ù¿ ÙË ‰È·ÁÓˆÛÙÈ΋ ÚÔÛ¤ÁÁÈÛË ÙÔ˘ 1Ô˘ ÂÂÈÛÔ‰›Ô˘ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ (American Academy of Neurology), ηıÒ˜ ˘¿Ú¯ÂÈ ÈηÓÔÔÈËÙÈÎfi˜ ·ÚÈıÌfi˜ ÚÔÔÙÈÎÒÓ, ÎÏÈÓÈο ·ÍÈfiÈÛÙˆÓ ÌÂÏÂÙÒÓ (2). ¶·È‰È·ÙÚÈ΋ 2008;71:201-209

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·206

206

ª. ∆˙Ô‡ÊË Î·È Û˘Ó.

¶›Ó·Î·˜ 5. ∆·ÍÈÓfiÌËÛË ÙˆÓ «ÂÈÏËÙÈÎÒÓ Û·ÛÌÒÓ» ∂ÈÏËÙÈÎÔ› Û·ÛÌÔ›

™‡Ó‰ÚÔÌ·

™·ÛÌÔ› Ô˘ Û¯ÂÙ›˙ÔÓÙ·È Ì ¯ÚfiÓÈ· ‹ ÂÍÂÏÈÛÛfiÌÂÓË ‚Ï¿‚Ë ÙÔ˘ ∫¡™ ‹ Î·È Ì ÚÔËÁÔ‡ÌÂÓË ·Ï·È¿ ÚÔÁÂÓÓËÙÈ΋, ÂÚÈÁÂÓÓËÙÈ΋ ‹ ÌÂÙ·ÁÂÓÓËÙÈ΋ ‚Ï¿‚Ë

™˘Ìو̷ÙÈο ÂÈÏËÙÈο Û‡Ó‰ÚÔÌ· ñ ¢Â˘ÙÂÚÔ·ı‹ ÏfiÁˆ ¯ÚfiÓÈ·˜ ‹ ŸÁÎÔÈ ÂÁÎÂÊ¿ÏÔ˘, Ó¢ÚÔÂÎÊ˘ÏÈÛÙÈΤ˜ ÂÍÂÏÈÛÛfiÌÂÓ˘ ÂÁÎÂÊ·ÏÈ΋˜ ‚Ï¿‚˘ ÓfiÛÔÈ, ·ÔÌ˘ÂÏÈÓˆÙÈΤ˜ ÓfiÛÔÈ, Ó¢ÚÔ‰ÂÚÌ·ÙÈο Û‡Ó‰ÚÔÌ·, ÎÏËÚÔÓÔÌÈο ÌÂÙ·‚ÔÏÈο ÓÔÛ‹Ì·Ù· Î.¿. ñ ™¯ÂÙÈ˙fiÌÂÓ· Ì ÌË ÂÍÂÏÈÛÛfiÌÂÓË ÃÚˆÌÔÛˆÌÈο Û‡Ó‰ÚÔÌ·, ‰˘ÛÁÂÓ¤ÛÂȘ ÙÔ˘ ÂÁÎÂÊ·ÏÈ΋ ‚Ï¿‚Ë ∫¡™ (˘ÔÏ·Û›· ‹ ·Ï·Û›· ÌÂÛÔÏÔ‚›Ô˘, ·ÓˆÌ·Ï›Â˜ ·Ó¿Ù˘Í˘ ÙÔ˘ ÊÏÔÈÔ‡, ÛÎÏ‹Ú˘ÓÛË ·Ì̈Ó›Ԣ ΤڷÙÔ˜), ÂÓ‰ÔÌ‹ÙÚȘ ÏÔÈÌÒÍÂȘ, Ï‹„Ë Ê·ÚÌ¿ÎˆÓ ·fi ÙË ÌËÙ¤Ú·, ˘ÔÍÈ΋ ÈÛ¯·ÈÌÈ΋ ÂÁÎÂÊ·ÏÔ¿ıÂÈ·, ÙÚ·˘Ì·ÙÈΤ˜ ηÎÒÛÂȘ ÛÙÔÓ ÙÔÎÂÙfi, ÂÚÈÁÂÓÓËÙÈΤ˜ ÏÔÈÌÒÍÂȘ Î.¿.) ñ π‰ÈÔ·ı‹˜ ÂÈÏË„›· ¶Èı·Ó‹ ÁÂÓÂÙÈ΋ ·ÈÙÈÔÏÔÁ›· ñ ∫Ú˘„ÈÁÂÓ‹˜ ÂÈÏË„›· ∞Û·Ê‹˜ ‹ ¿ÁÓˆÛÙË ·ÈÙÈÔÏÔÁ›·

™·ÛÌÔ› ¯ˆÚ›˜ ·ÓȯÓ‡ÛÈÌË ÚfiÛÊ·ÙË ‹ ·Ï·ÈfiÙÂÚË ÂÁÎÂÊ·ÏÈ΋ ‚Ï¿‚Ë

∏ Û˘Ì‚ÔÏ‹ ÙÔ˘ Â›Ó·È ÔÏÏ·Ï‹: 1. ¢È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË ÌÂٷ͇ ÂÈÏËÙÈÎÔ‡ Î·È ÌË ÂÈÏËÙÈÎÔ‡ Ù‡Ô˘ Û·ÛÌÒÓ, ¤¯ÔÓÙ·˜ ‚‚·›ˆ˜ ˘fi„Ë ÙÔ˘˜ ÂÍ‹˜ ÂÚÈÔÚÈÛÌÔ‡˜: ·. ÔÛÔÛÙfi 0,5-2,8% ˘ÁÈÒÓ ·È‰ÈÒÓ, Ô˘ ‰ÂÓ Â›¯·Ó ÔÙ¤ Û·ÛÌÔ‡˜, ÂÌÊ·Ó›˙ÂÈ ÂÈÏËÙÈΤ˜ ÂÎÊÔÚÙ›ÛÂȘ (18) (·ÍÈÔÏÔÁÔ‡ÓÙ·È ÌfiÓÔÓ fiÙ·Ó ˘¿Ú¯ÂÈ Û·Ê¤˜ ÎÏÈÓÈÎfi ÈÛÙÔÚÈÎfi) Î·È ‚. 56% ÙˆÓ ·È‰ÈÒÓ Ì ÙÔ ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ Î·È 41% ·È‰ÈÒÓ Ì ÂÈÏË„›· ¤¯Ô˘Ó Ê˘ÛÈÔÏÔÁÈÎfi ∏∂° (20) (fiÙ·Ó ˘¿Ú¯ÂÈ ÈÛ¯˘Ú‹ ÎÏÈÓÈ΋ ˘Ô„›·, Ú¤ÂÈ Ó· Á›ÓÂÙ·È ∏∂° Î·È Ì ÛÙ¤ÚËÛË ‡ÓÔ˘, ÚÔÎÂÈ̤ÓÔ˘ Ó· ·˘ÍËı› Ë ‰È·ÁÓˆÛÙÈ΋ ÙÔ˘ ·Í›·) (21).

2. ¢È¿ÁÓˆÛË Û˘ÁÎÂÎÚÈ̤ÓÔ˘ ÂÈÏËÙÈÎÔ‡ Û˘Ó‰ÚfiÌÔ˘ (.¯. Ó·ÓÈ΋ Ì˘ÔÎÏÔÓÈ΋ ÂÈÏË„›· ÙÔ˘ Janz) ‹ ÔÚÈÛÌfi˜ ÙÔ˘ Ù‡Ô˘ ÙˆÓ Û·ÛÌÒÓ (.¯. ÂÛÙȷ΋˜ ¤Ó·Ú͢ Î·È fi¯È ÁÂÓÈÎÂ˘Ì¤ÓÔÈ) (22).

3. ¶ÚÔÁÓˆÛÙÈ΋ ·Í›·: ·ÔÙÂÏ› ÙÔÓ Î·Ï‡ÙÂÚÔ ÚÔÁÓˆÛÙÈÎfi ‰Â›ÎÙË ÁÈ· ÙËÓ Èı·ÓfiÙËÙ· Ù˘ ˘ÔÙÚÔ‹˜ Û·ÛÌÒÓ, Û Ó¢ÚÔÏÔÁÈο ˘ÁÈ‹ ·È‰È¿ ÌÂÙ¿ ÙÔ ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ (΢ڛˆ˜ fiÙ·Ó ÂÌÊ·Ó›˙ÂÈ Û·Ê›˜ ÂÈÏËÙÈΤ˜ ÂÎÊÔÚÙ›ÛÂȘ ‹ ÂÛÙȷ΋ ÂÈ‚Ú¿‰˘ÓÛË) (2,23). ŒÙÛÈ, ·Ó ÙÔ ∏∂° Â›Ó·È ·ıÔÏÔÁÈÎfi, Ë Èı·ÓfiÙËÙ· ˘ÔÙÚÔ‹˜ ·Ó¤Ú¯ÂÙ·È ÛÙÔ 54%, ÂÓÒ fiÙ·Ó Â›Ó·È Ê˘ÛÈÔÏÔÁÈÎfi ·Ó¤Ú¯ÂÙ·È ÌfiÓÔ ÛÙÔ 25% (24,25,26).

4. ¶·ÚÔ¯‹ ÏËÚÔÊÔÚÈÒÓ Û¯ÂÙÈο Ì ÙË Ì·ÎÚfi¯ÚÔÓË ÚfiÁÓˆÛË (2,24,25,26) (.¯. Ù˘ÈΤ˜ ÂÈÏËÙÈΤ˜ ÂÎÊÔÚÙ›ÛÂȘ Ù˘ ηÏÔ‹ıÔ˘˜ ÂÛÙȷ΋˜ ÂÈÏË„›·˜ ÂÈÙÚ¤Ô˘Ó ÙËÓ ÂÓË̤ڈÛË ÁÈ· ·Ó·ÌÂÓfiÌÂÓË Î·Ï‹ ¤Î‚·ÛË).

5. ™˘Ì‚ÔÏ‹ ÛÙËÓ ·fiÊ·ÛË ÁÈ· ÙȘ ÂӉ‰ÂÈÁ̤Ó˜ Ó¢ÚÔ·ÂÈÎÔÓÈÛÙÈΤ˜ ÂÍÂÙ¿ÛÂȘ (.¯. Û ÂÛÙȷΤ˜ ÂÈÏËÙÈΤ˜ ÂÎÊÔÚÙ›ÛÂȘ) (27).

6. ™˘Ì‚ÔÏ‹ ÛÙËÓ ·fiÊ·ÛË ÁÈ· ÙËÓ ¤Ó·ÚÍË ·ÓÙÈÂÈÏËÙÈ΋˜ ·ÁˆÁ‹˜ (ÛÂ Û˘Ó‰˘·ÛÌfi Ì ¿ÏϘ ·Ú·Ì¤ÙÚÔ˘˜) (5).

Paediatriki 2008;71:201-209

∞ÈÙÈÔÏÔÁ›·

√ ÂÓ‰ÂÈÎÓ˘fiÌÂÓÔ˜ ¯ÚfiÓÔ˜ Ù¤ÏÂÛ˘ ÙÔ˘ ∏∂° ‰ÂÓ Â›Ó·È Û·ÊÒ˜ ηıÔÚÈṲ̂ÓÔ˜, fï˜ Ë Èı·ÓfiÙËÙ· ηٷÁÚ·Ê‹˜ ÂÈÏËÙÈÎÒÓ ÂÎÊÔÚÙ›ÛÂˆÓ Â›Ó·È ÌÂÁ·Ï‡ÙÂÚË, ·Ó ·˘Ùfi Á›ÓÂÈ ÙȘ ÚÒÙ˜ 24 ÒÚ˜, ·Ú¿ ηÙfiÈÓ (51% ¤Ó·ÓÙÈ 34%). £· Ú¤ÂÈ, ˆÛÙfiÛÔ, Ó· ÁÓˆÚ›˙Ô˘Ì fiÙÈ Î¿ÔÈ· ·ıÔÏÔÁÈο Â˘Ú‹Ì·Ù·, fiˆ˜ Ë ÌÂÙ·ÎÚÈÙÈ΋ ÂÈ‚Ú¿‰˘ÓÛË ÙÔ˘ Ú˘ıÌÔ‡, Ô˘ ÌÔÚ› Ó· ˘¿Ú¯Ô˘Ó ÙȘ ÚÒÙ˜ 24-48 ÒÚ˜, Â›Ó·È ·ÚÔ‰Èο Î·È Ú¤ÂÈ Ó· ·ÍÈÔÏÔÁÔ‡ÓÙ·È Ì ÚÔÛÔ¯‹. ŒÙÛÈ, ÙÔ ∏∂° (ÂÁÚËÁfiÚÛ˘ Î·È ‡ÓÔ˘) ‰ÂÓ ¯ÚÂÈ¿˙ÂÙ·È Ó· Á›ÓÂÙ·È ÚÈÓ ·fi ÙËÓ ·Ô¯ÒÚËÛË ÙÔ˘ ·ÛıÂÓÔ‡˜ ·fi ÙÔ ∆Ì‹Ì· ÂÂÈÁfiÓÙˆÓ, ·ÏÏ¿ Ú¤ÂÈ Ó· Á›ÓÂÙ·È Û‡ÓÙÔÌ· Û Â͈ÙÂÚÈ΋ ‚¿ÛË, ηıÒ˜ ¤ÙÛÈ ·˘Í¿ÓÂÈ Ë Èı·ÓfiÙËÙ· ηٷÁÚ·Ê‹˜ ÂÈÏËÙÈÎÒÓ ÂÎÊÔÚÙ›ÛÂˆÓ (2,23). ŸÛÔÓ ·ÊÔÚ¿ ÙËÓ 24ˆÚË Î·Ù·ÁÚ·Ê‹ ∏∂° ÌÔÚ› Ó· Ê·Ó› ¯Ú‹ÛÈÌË ÛÙÔ Ó· ÙÂı› Û›ÁÔ˘ÚË ‰È¿ÁÓˆÛË Û ÂÂÈÛfi‰È· ·ÒÏÂÈ·˜ Û˘Ó›‰ËÛ˘ (.¯. ·Ô˘Û›· ηٷÁÚ·Ê‹˜ ÂÎÊÔÚÙ›ÛÂˆÓ ÙËÓ ÒÚ· ÙÔ˘ ÂÂÈÛÔ‰›Ô˘, ÛÙË Ó¢ÚÔηډÈÔÁÂÓ‹ Û˘ÁÎÔ‹). ∂ÈÚfiÛıÂÙ·, ÙÔ video EEG (‚Ú·¯Â›·˜ ‹ ̤Û˘ ‰È¿ÚÎÂÈ·˜) ÌÔÚ› Ó· ¯ÚËÛÈÌÔÔÈËı› Û˘ÓÂÈÎÔ˘ÚÈο ÛÙÔ ¯·Ú·ÎÙËÚÈÛÌfi ÙÔ˘ Ù‡Ô˘ ÙˆÓ Û·ÛÌÒÓ Î·È ÙÔ˘ ÂÈÏËÙÈÎÔ‡ Û˘Ó‰ÚfiÌÔ˘, ‚ÂÏÙÈÒÓÔÓÙ·˜ ÙË ‰È·ÁÓˆÛÙÈ΋ ÚÔÛ¤ÁÁÈÛË (18).

III. ¡Â˘ÚÔ·ÂÈÎÔÓÈÛÙÈΤ˜ ̤ıÔ‰ÔÈ ·. ∞ÎÙÈÓÔÁÚ·Ê›· ÎÚ·Ó›Ô˘: ‰ÂÓ ¯ÚËÛÈÌÔÔÈÂ›Ù·È ·Ú¿ ÌfiÓÔ ÁÈ· ÙËÓ ·Ó¿‰ÂÈÍË Î·Ù·ÁÌ¿ÙˆÓ, Û ÂÚÈÙÒÛÂȘ ÎÚ·ÓÈÔÂÁÎÂÊ·ÏÈÎÒÓ Î·ÎÒÛÂˆÓ (∫∂∫) (ȉ›ˆ˜ Û ˘Ô„›· ηÎÔÔÈË̤ÓÔ˘ ·È‰ÈÔ‡, ÛÂ Û˘Ó‰˘·ÛÌfi Î·È Ì ·ÍÔÓÈ΋ ÙÔÌÔÁÚ·Ê›· ÂÁÎÂÊ¿ÏÔ˘, Ë ÔÔ›· ¤¯ÂÈ ÌÂÁ·Ï‡ÙÂÚË Â˘·ÈÛıËÛ›· ÛÙËÓ ·Ó›¯Ó¢ÛË ÁÚ·ÌÌÔÂȉÒÓ Î·Ù·ÁÌ¿ÙˆÓ). ‚. ÀÂÚ˯ÔÁÚ¿ÊËÌ· ÂÁÎÂÊ¿ÏÔ˘: ¤¯ÂÈ ÂÚÈÔÚÈṲ̂Ó˜ ‰˘Ó·ÙfiÙËÙ˜ ÛÙËÓ ÂÎÙ›ÌËÛË ÂÓ‰ÔÎÚ¿ÓÈˆÓ ·ÓˆÌ·ÏÈÒÓ, ÌÔÚ› ˆÛÙfiÛÔ Ó· ¯ÚËÛÈÌÔÔÈËı› ˆ˜ screening test ÁÈ· ÙÔÓ ÂÁΤʷÏÔ Î·È ÙË ÛÔÓ‰˘ÏÈ΋ ÛÙ‹ÏË ÛÂ

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Ó·ڿ ‚Ú¤ÊË. ªÔÚ› Â›Û˘ ÛÙÔ ›‰ÈÔ ËÏÈÎÈ·Îfi Ê¿ÛÌ· Ó· ‚ÔËı‹ÛÂÈ, fiÙ·Ó ‰ÂÓ ÌÔÚ› Ó· Á›ÓÂÈ ·ÍÔÓÈ΋ (CT scan) ‹ Ì·ÁÓËÙÈ΋ ÙÔÌÔÁÚ·Ê›· ÂÁÎÂÊ¿ÏÔ˘ (MRI). Á. ∞ÍÔÓÈ΋ ÙÔÌÔÁÚ·Ê›· ÂÁÎÂÊ¿ÏÔ˘: ˘ÂÚ¤¯ÂÈ ÛÙËÓ ·Ó¿‰ÂÈÍË ˘·Ú·¯ÓÔÂȉԇ˜ ·ÈÌÔÚÚ·Á›·˜ Î·È Â·Û‚ÂÛÙÒÛÂˆÓ ÛÙÔÓ ÂÁΤʷÏÔ (.¯. Û Ô˙Ò‰Ë ÛÎÏ‹Ú˘ÓÛË) (28). √˘ÛÈ·ÛÙÈο ¯ÚËÛÈÌÔÔÈÂ›Ù·È ÌfiÓÔ Û ·‰˘Ó·Ì›· ÂÎÙ¤ÏÂÛ˘ MRI ÂÁÎÂÊ¿ÏÔ˘, Û Â›ÁÔ˘Û˜ ÂÚÈÙÒÛÂȘ (2), Ì ۷ʋ ÌÂÈÔÓÂÎÙ‹Ì·Ù·: 1. ÙËÓ ¤ÎıÂÛË Û ÈÔÓ›˙Ô˘Û· ·ÎÙÈÓÔ‚ÔÏ›·, 2. ÙË Û·ÊÒ˜ ÌÈÎÚfiÙÂÚË Â˘·ÈÛıËÛ›· ·Ó›¯Ó¢Û˘ ‚Ï·‚ÒÓ (3,7% ÙˆÓ ·ÛıÂÓÒÓ, Ì ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ Î·È Ê˘ÛÈÔÏÔÁÈ΋ CT, ›¯Â ÎÏÈÓÈο ÛËÌ·ÓÙÈο ·ıÔÏÔÁÈο Â˘Ú‹Ì·Ù· ÛÙËÓ MRI (29). ∞Ó¿‰ÂÈÍË ‚Ï·‚ÒÓ Û ·È‰È¿ ·Ú·ÙËÚÂ›Ù·È Û ÌÈÎÚfi ÔÛÔÛÙfi ·fi 0-12% Î·È Û˘Ó‹ıˆ˜ ·˘Ù¤˜ ÔÈ ‚Ï¿‚˜ ‰ÂÓ ¤¯Ô˘Ó ıÂÚ·¢ÙÈ΋ ÛËÌ·Û›· (.¯. ·ÙÚÔÊ›·) (2,30). À¿Ú¯ÂÈ ÌÂÁ·Ï‡ÙÂÚË Èı·ÓfiÙËÙ· ·Ó‡ÚÂÛ˘ ‚Ï·‚ÒÓ (fiÁÎÔ˜, ˘‰ÚÔΤʷÏÔ˜, ÔÚÂÁÎÂÊ·ÏÈ΋ ·ÛÙË Î.¿.), fiÙ·Ó ÛÙÔ ÈÛÙÔÚÈÎfi ·ÓȯÓ‡ÔÓÙ·È Û˘ÁÎÂÎÚÈ̤ÓÔÈ ·Ú¿ÁÔÓÙ˜ ÎÈÓ‰‡ÓÔ˘ fiˆ˜: ∫∂∫, ÁÓˆÛÙ‹ Ó¢ÚÔÏÔÁÈ΋ ÓfiÛÔ˜, ËÏÈΛ· <5 ÌËÓÒÓ, ÂÛÙÈ·Îfi Ó¢ÚÔÏÔÁÈÎfi ¤ÏÏÂÈÌÌ· ÌÂÙ¿ ÙÔ Û·ÛÌfi (2,29,31). ‰. MRI ÂÁÎÂÊ¿ÏÔ˘: Â›Ó·È Ë ÂͤٷÛË ÂÎÏÔÁ‹˜, ÁÈ·Ù› ‰›ÓÂÈ Ôχ ÂÚÈÛÛfiÙÂÚ˜ ÏËÚÔÊÔڛ˜, Ì ·Ó›¯Ó¢ÛË ·ıÔÏÔÁÈÎÒÓ Â˘ÚËÌ¿ÙˆÓ, ÛÙÔ 33% ÙˆÓ ÂÚÈÙÒÛÂˆÓ (2,32). ∫ÏÈÓÈο, fï˜, ÛËÌ·ÓÙÈο, ·ıÔÏÔÁÈο Ó¢ÚÔ·ÂÈÎÔÓÈÛÙÈο Â˘Ú‹Ì·Ù· (·ÈÌÔÚÚ·Á›·, ·ÁÁÂÈ·Îfi ¤ÌÊÚ·ÎÙÔ, fiÁÎÔ˜, Ó¢ÚÔ‰ÂÚÌ·ÙÈο ÓÔÛ‹Ì·Ù·, ÊÏÂÁÌÔÓÒ‰ÂȘ ‚Ï¿‚˜ .¯. ΢ÛÙÈΤÚΈÛË, ÔÍ›· ·ÔÌ˘ÂÏÈÓˆÙÈ΋ ÂÁÎÂÊ·ÏÔÌ˘ÂÏ›Ùȉ·, ‰˘ÛÁÂÓÂÙÈΤ˜ ‚Ï¿‚˜, ˘‰ÚÔΤʷÏÔ˜) ·ÓȯÓ‡ÔÓÙ·È ÌfiÓÔ ÛÙÔ 2-8% Î·È ÂÍ’ ·˘ÙÒÓ ÓÂfiÏ·ÛÌ· ‹ ¤ÌÊÚ·ÎÙÔ ÌfiÓÔ ÛÙÔ 1% (2,29). ∏ Èı·ÓfiÙËÙ·, fï˜, ·Ó›¯ÓÂ˘Û‹˜ ÙÔ˘˜ Â›Ó·È Ôχ ÌÂÁ·Ï‡ÙÂÚË (26%) (29) fiÙ·Ó: 1. ˘¿Ú¯Ô˘Ó ÂÛÙÈ·ÎÔ› Û·ÛÌÔ›, 2. Ë ËÏÈΛ· Â›Ó·È <33 ÌËÓÒÓ, 3. ˘¿Ú¯Ô˘Ó ÚԉȷıÂÛÈÎÔ› ·Ú¿ÁÔÓÙ˜ (‰ÚÂ·ÓÔ΢ÙÙ·ÚÈ΋ ·Ó·ÈÌ›·, ·ÈÌÔÚÚ·ÁÈΤ˜ ‰È·Ù·Ú·¯¤˜, ·ÁÁÂȷ΋ ÂÁÎÂÊ·ÏÈ΋ ÓfiÛÔ˜, ηÎÔ‹ıÂÈ·, HIV Ïԛ̈ÍË, ËÌÈ˘ÂÚÙÚÔÊ›·, ˘‰ÚÔΤʷÏÔ˜, ÚfiÛÊ·ÙË ∫∂∫ Ì ·ÒÏÂÈ· Û˘Ó›‰ËÛ˘, Â›ÌÔÓË ÎÂÊ·Ï·ÏÁ›·, ÂÌÂÙfi Î·È Ì ·ÏÏ·Á‹ ÓÔËÙÈ΋˜ ηٿÛÙ·Û˘).

H MRI Â›Ó·È ›Ûˆ˜ Ô Î·Ï‡ÙÂÚÔ˜ ÙÚfiÔ˜ ÂÎÙ›ÌËÛ˘ Û˘ÁÁÂÓÒÓ ·ÓˆÌ·ÏÈÒÓ ÙÔ˘ ÂÁÎÂÊ¿ÏÔ˘ Î·È ‰È·Ù·Ú·¯ÒÓ Ù˘ Ï¢΋˜ Î·È Ù˘ Ê·È¿˜ Ô˘Û›·˜, ηıÒ˜ Î·È ·ÔÎÏÂÈÛÌÔ‡ ÂÍÂÏÈÛÛfiÌÂÓˆÓ ‚Ï·‚ÒÓ, fiˆ˜ fiÁÎÔ˘, ·ÁÁÂÈ·ÎÒÓ ·ÓˆÌ·ÏÈÒÓ Î·È ÂÛÙȷ΋˜ ÊÏÔÈÒ‰Ô˘˜ ‰˘ÛÏ·Û›·˜ (2,28,29). ¶ÚfiÛÊ·Ù˜ ÚfiÔ‰ÔÈ ÛÙȘ Ù¯ÓÈΤ˜ ÙˆÓ MRI, fiˆ˜ ·ÎÔÏÔ˘ı›Â˜ FLAIR (Fluid attenuation inversion technique), ·ÎÔÏÔ˘ı›Â˜ STIR (Fat suppression short T1 inversion recovery

technique), ηıÒ˜ Î·È fast Î·È ultrafast MRI Ù¯ÓÈΤ˜, ¤¯Ô˘Ó ·˘Í‹ÛÂÈ ÙȘ ‰È·ÁÓˆÛÙÈΤ˜ Ù˘ ÈηÓfiÙËÙ˜. Â. PET (position emission tomography) Î·È SPECT (single photon emission computed tomography): Â›Ó·È ÏÂÈÙÔ˘ÚÁÈΤ˜ Ó¢ÚÔ·ÂÈÎÔÓÈÛÙÈΤ˜ ̤ıÔ‰ÔÈ Î·È Â›Ó·È ÈÔ Â˘·›ÛıËÙ˜ ‰È·ÁÓˆÛÙÈο, Û ۯ¤ÛË Ì ÙËÓ MRI, Û ÂÚÈÙÒÛÂȘ ÌfiÓÔÓ fiÔ˘ Ë ÌÂÙ·‚ÔÏÈ΋ ‰È·Ù·Ú·¯‹ Â›Ó·È ÈÔ ÛËÌ·ÓÙÈ΋ ·fi ÙË ‰ÔÌÈ΋ (.¯. Û ÌÈÎÚ¤˜ ÊÏÔÈ˚Τ˜ ‰˘ÛϷۛ˜ Ô˘ ¤¯Ô˘Ó ˘ÔÌÂÙ·‚ÔÏÈÛÌfi). ∫˘Ú›ˆ˜, ÏÔÈfiÓ, ¯ÚËÛÈÌÔÔÈÔ‡ÓÙ·È ÛÙËÓ ÚÔÂÁ¯ÂÈÚËÙÈ΋ ÂÎÙ›ÌËÛË ·ÛıÂÓÒÓ Ì ·ÓıÂÎÙÈ΋ ÂÈÏË„›·, ÂÓÒ Ë ‰È·ÁÓˆÛÙÈ΋ ÙÔ˘˜ ÛËÌ·Û›· ÛÙÔ ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ Â›Ó·È ·ÎfiÌË ¿ÁÓˆÛÙË (32,33). ªÂ ‚¿ÛË Ù· ÚÔ·Ó·ÊÂÚı¤ÓÙ· ÁÈ· fiϘ ÙȘ Ó¢ÚÔ·ÂÈÎÔÓÈÛÙÈΤ˜ ÌÂıfi‰Ô˘˜, ηٷϋÁÔ˘Ì ÛÙ· ÂÍ‹˜: 1. ∞Ó Á›ÓÂÈ Ó¢ÚÔ·ÂÈÎÔÓÈÛÙÈÎfi˜ ¤ÏÂÁ¯Ô˜, Ë ÚÔÙÈÌÒÌÂÓË ÂͤٷÛË Â›Ó·È Ë MRI ÂÁÎÂÊ¿ÏÔ˘ (2,29,32). ™Â Â›ÁÔ˘Û˜ ÂÚÈÙÒÛÂȘ (·ÈÌÔÚÚ·Á›·˜, ÂÁÎÂÊ·ÏÈÎÔ‡ Ôȉ‹Ì·ÙÔ˜, ÈÂÛÙÈÎÒÓ Ê·ÈÓÔ̤ӈÓ), fiÔ˘ ‰ÂÓ ˘¿Ú¯ÂÈ Ë ‰˘Ó·ÙfiÙËÙ· MRI, Ë ·ÂÈÎfiÓÈÛË Ì CT Â›Ó·È Â·Ú΋˜ Î·È ·ÔÙÂÏÂÛÌ·ÙÈ΋ (29).

2. ∂›ÁˆÓ Ó¢ÚÔ·ÂÈÎÔÓÈÛÙÈÎfi˜ ¤ÏÂÁ¯Ô˜ Ì MRI, ÁÈ· ÙËÓ ·Ó¿‰ÂÈÍË ÛÔ‚·ÚÒÓ ‚Ï·‚ÒÓ Ô˘ ¯Ú‹˙Ô˘Ó ¿ÌÂÛ˘ ·ÓÙÈÌÂÙÒÈÛ˘ (·ÈÌÔÚÚ·Á›·, ÈÂÛÙÈο Ê·ÈÓfiÌÂÓ·), Ú¤ÂÈ Ó· Á›ÓÂÙ·È Û fiÏ· Ù· ·È‰È¿, ·ÓÂÍ·ÚÙ‹ÙÔ˘ ËÏÈΛ·˜, Ô˘ ÂÌÊ·Ó›˙Ô˘Ó ÌÂÙÂÎÎÚÈÙÈο ÂÛÙȷο ÂÏÏ›ÌÌ·Ù· (Todd’s ·Ú¿Ï˘ÛË), Ù· ÔÔ›· ÂÈ̤ÓÔ˘Ó, ‹ Û ·È‰È¿ Ù· ÔÔ›· ‰ÂÓ Â·Ó¤Ú¯ÔÓÙ·È ÛÂ Ê˘ÛÈÔÏÔÁÈ΋ ηٿÛÙ·ÛË, ·ÚÎÂÙ¤˜ ÒÚ˜ ÌÂÙ¿ ÙÔ˘˜ Û·ÛÌÔ‡˜ (2,29,34).

3. ¶ÚÔÁÚ·ÌÌ·ÙÈṲ̂ÓÔ˜ Ó¢ÚÔ·ÂÈÎÔÓÈÛÙÈÎfi˜ ¤ÏÂÁ¯Ô˜ Ì MRI (ÌÂÚÈΤ˜ ̤Ú˜ ÌÂÙ¿ ÙÔ˘˜ Û·ÛÌÔ‡˜ ‹ Î·È ·ÚÁfiÙÂÚ·), Ì ÛÙfi¯Ô ÙËÓ ·Ó¿‰ÂÈÍË ‚Ï·‚ÒÓ Ô˘ ÌÔÚ› Ó· ÂËÚ¿ÛÔ˘Ó ÙËÓ ÚfiÁÓˆÛË, Ú¤ÂÈ Ó· Á›ÓÂÙ·È (2,27,28,35,36): i. Û ÔÔÈÔ‰‹ÔÙ ·È‰› Ì ÛËÌ·ÓÙÈÎfi ÓÔËÙÈÎfi ‹ ÎÈÓËÙÈÎfi ¤ÏÏÂÈÌÌ·, ii. Û ·Ó‡ÚÂÛË ·ÓÂÍ‹ÁËÙˆÓ ·ÓˆÌ·ÏÈÒÓ ÛÙË Ó¢ÚÔÏÔÁÈ΋ ÂͤٷÛË ‹ ·ÚÙËÚȷ΋˜ ˘¤ÚÙ·Û˘, iii. fiÙ·Ó ˘¿Ú¯ÂÈ Û·ÛÌfi˜ Ì ÂÛÙȷ΋ ¤Ó·ÚÍË, Ì ‹ ¯ˆÚ›˜ ‰Â˘ÙÂÚÔ·ı‹ ÁÂӛ΢ÛË, iv. fiÙ·Ó ˘¿Ú¯ÂÈ ∏∂°ÊÈÎfi˜ ¤ÏÂÁ¯Ô˜, Ô˘ ‰ÂÓ ÂÌÊ·Ó›˙ÂÈ Â˘Ú‹Ì·Ù· ηÏÔ‹ıÔ˘˜ ÂÛÙȷ΋˜ ÂÈÏË„›·˜ Ù˘ ·È‰È΋˜ ËÏÈΛ·˜ ‹ ÚˆÙÔ·ıÔ‡˜ ÁÂÓÈÎÂ˘Ì¤Ó˘ ÂÈÏË„›·˜, v. fiÙ·Ó Ë ËÏÈΛ· ÙÔ˘ ·È‰ÈÔ‡ Â›Ó·È Î¿Ùˆ ÙÔ˘ ¤ÙÔ˘˜, vi. fiÙ·Ó ˘¿Ú¯ÂÈ ÎÏËÚÔÓÔÌÈÎfi ÈÛÙÔÚÈÎfi Ó¢ÚÔÏÔÁÈÎÔ‡ ÓÔÛ‹Ì·ÙÔ˜.

™˘ÌÂÚ¿ÛÌ·Ù· ™ÙÔ ·È‰› Ì ÚÒÙÔ ÂÂÈÛfi‰ÈÔ ·‡ÚÂÙˆÓ Û·ÛÌÒÓ, ÙÔ ÈÛÙÔÚÈÎfi (΢ڛˆ˜), ÛÂ Û˘Ó‰˘·ÛÌfi Ì ÙËÓ ¶·È‰È·ÙÚÈ΋ 2008;71:201-209

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ª. ∆˙Ô‡ÊË Î·È Û˘Ó.

·ÓÙÈÎÂÈÌÂÓÈ΋ ÂͤٷÛË, Â›Ó·È ÂΛӷ Ô˘ ı· ÂȂ‚·ÈÒÛÔ˘Ó ·Ó ÙÔ “ÁÂÁÔÓfi˜” ‹Ù·Ó Ú¿ÁÌ·ÙÈ Û·ÛÌfi˜ Î·È ÙÈ Ù‡Ô˜ Û·ÛÌÔ‡ ‹Ù·Ó. ∂ÈÚfiÛıÂÙ·, ı· ÚÔÛʤÚÔ˘Ó Â·ÚΛ˜ ÏËÚÔÊÔڛ˜ ÁÈ· ÙËÓ Èı·Ó‹ ·ÈÙ›· ÙÔ˘ Û·ÛÌÔ‡ ‹ ı· ηÙ¢ı‡ÓÔ˘Ó ·Ó¿ÏÔÁ· Ì ÙËÓ ·Ó·ÁηÈfiÙËÙ· ÂÚÈÛÛfiÙÂÚˆÓ ‰È·ÁÓˆÛÙÈÎÒÓ ÂÍÂÙ¿ÛˆÓ. √È ‰È·ÁÓˆÛÙÈΤ˜ ÂÍÂÙ¿ÛÂȘ Â›Ó·È ÛËÌ·ÓÙÈΤ˜, ηıÒ˜ ÂËÚ¿˙Ô˘Ó ÙȘ ıÂÚ·¢ÙÈΤ˜ ·ÔÊ¿ÛÂȘ, ÙË Û˘Ì‚Ô˘Ï¢ÙÈ΋ ‚Ô‹ıÂÈ· ÛÙȘ ÔÈÎÔÁ¤ÓÂȘ Î·È Ù· ÂȉÈο Ï¿Ó· ·Ú·ÎÔÏÔ‡ıËÛ˘ ÙÔ˘ ·ÛıÂÓÔ‡˜ Î·È ÈÔ Û˘ÁÎÂÎÚÈ̤ӷ: 1. ∆Ô ∏∂° (ÂÁÚ‹ÁÔÚÛ˘ Î·È ‡ÓÔ˘) ı· Ú¤ÂÈ Ó· Á›ÓÂÙ·È Û fiÏ· Ù· ·È‰È¿, ÁÈ· Ó· ÚÔ‚ÏÂÊı› Ô Î›Ó‰˘ÓÔ˜ ˘ÔÙÚÔ‹˜, Î·È Ó· Ù·ÍÈÓÔÌËı› Ô Ù‡Ô˜ ÙÔ˘ Û·ÛÌÔ‡ Î·È ÙÔ ÂÈÏËÙÈÎfi Û‡Ó‰ÚÔÌÔ.

2. ∏ ·fiÊ·ÛË Ó· Á›ÓÔ˘Ó Î·È ¿ÏϘ ÂÍÂÙ¿ÛÂȘ, fiˆ˜ √¡¶, ÂÚÁ·ÛÙËÚȷΤ˜ ÂÍÂÙ¿ÛÂȘ Î·È Ó¢ÚÔ·ÂÈÎfiÓÈÛË (Ì ÛÎÔfi Ó· ÔÚÈÛı› Ë ·ÈÙÈÔÏÔÁ›· ÙÔ˘ Û·ÛÌÔ‡ Î·È Ó· ·ÓȯÓ¢ıÔ‡Ó ‰˘ÓËÙÈο ıÂÚ·‡ÛÈ̘ ·ÓˆÌ·Ï›Â˜) ÂÍ·ÚÙ¿Ù·È ·fi ÙËÓ ËÏÈΛ· ÙÔ˘ ·ÛıÂÓÔ‡˜ Î·È ÙȘ ÂȉÈΤ˜ ÎÏÈÓÈΤ˜ ηٷÛÙ¿ÛÂȘ.

3. ∂ȉÈο fï˜ ÔÈ Ó¢ÚÔ·ÂÈÎÔÓÈÛÙÈΤ˜ ÂÍÂÙ¿ÛÂȘ Ê·›ÓÂÙ·È Ó· ¯ÚÂÈ¿˙ÔÓÙ·È ÛÙ· ÂÚÈÛÛfiÙÂÚ· ·È‰È¿ (·Ú’ fiÙÈ ··ÈÙÂ›Ù·È ÌÂÁ·Ï‡ÙÂÚÔ˜ ·ÚÈıÌfi˜ ·ÍÈfiÈÛÙˆÓ ÚÔÔÙÈÎÒÓ ÌÂÏÂÙÒÓ), ηıÒ˜ Ë ‰È·ı¤ÛÈÌË Û‹ÌÂÚ· MRI ¤¯ÂÈ È‰È·›ÙÂÚ· ·˘ÍË̤Ó˜ Ù¯ÓÈΤ˜ ÈηÓfiÙËÙ˜ Î·È ÌÔÚ› Ó· ‚ÂÏÙÈÒÛÂÈ ÛËÌ·ÓÙÈο ÙȘ ÁÓÒÛÂȘ Ì·˜ ÛÙÔ ‰›Ô Ù˘ Ô˘ÛÈ·ÛÙÈ΋˜ ‰ÈÂÚ‡ÓËÛ˘ ÙÔ˘ 1Ô˘ ÂÂÈÛÔ‰›Ô˘ Û·ÛÌÒÓ.

ªÂÏÏÔÓÙÈ΋ ¤Ú¢ӷ ªÂÏÏÔÓÙÈΤ˜ ÌÂϤÙ˜ Ì Â·Ú΋ ‰Â›ÁÌ·Ù· ·ÛıÂÓÒÓ Î·È ÂȉÈο ÚˆÙfiÎÔÏÏ· ÌÔÚ› Ó· Ô‰ËÁ‹ÛÔ˘Ó ÛÙËÓ ÂÏ¿ÙÙˆÛË ÙÔ˘ ÎfiÛÙÔ˘˜ Î·È Ù˘ Ù·Ï·ÈˆÚ›·˜ ÌË ··Ú·›ÙËÙˆÓ ÂÍÂÙ¿ÛÂˆÓ ÛÙ· ·È‰È¿ Ì ÚÒÙÔ ÂÂÈÛfi‰ÈÔ Û·ÛÌÒÓ, ηıÒ˜ Î·È ÛÙËÓ ÈÔ ·ÍÈfiÈÛÙË ·Ó›¯Ó¢ÛË ÙˆÓ Î·Ù¿ÏÏËÏˆÓ ˘Ô„ËÊ›ˆÓ. ∞ÂÈÎÔÓÈÛÙÈΤ˜ ÌÂϤÙ˜ ÌÔÚ› Ó· ‚ÔËı‹ÛÔ˘Ó Â›Û˘ ÌÂÏÏÔÓÙÈο, ηıÔÚ›˙ÔÓÙ·˜ ÙȘ Û˘Óı‹Î˜, ˘fi ÙȘ Ôԛ˜ Ô Û·ÛÌfi˜ ÛÙ· ·È‰È¿ ÌÔÚ› Ó· Ô‰ËÁ‹ÛÂÈ Û ÓÂ˘ÚˆÓÈ΋ ‚Ï¿‚Ë. ∆¤ÏÔ˜, Ë ·Ó›¯Ó¢ÛË ÁÂÓÂÙÈÎÒÓ, ·ÓÔÛÔÏÔÁÈÎÒÓ Î·È ·ÂÈÎÔÓÈÛÙÈÎÒÓ ‰ÂÈÎÙÒÓ ÌÔÚ› Ó· ‚ÔËı‹ÛÂÈ Î·È ÛÙËÓ Úfi‚ÏÂ„Ë Ù˘ Ì·ÎÚfi¯ÚÔÓ˘ ¤Î‚·Û˘. °ÂÓÈο, ¿ÓÙˆ˜, Ë ÛÙfi¯Â˘ÛË ÁÈ· ÙÔ˘˜ Û·ÛÌÔ‡˜ ÛÙËÓ ÂfiÌÂÓË ‰ÂηÂÙ›· ı· Ú¤ÂÈ Ó· Û˘ÓÔ„›˙ÂÙ·È ÛÙËÓ ·Ó¿Ù˘ÍË ÛÙÚ·ÙËÁÈ΋˜, ΢ڛˆ˜ ÁÈ· ÙËÓ ÚfiÏË„Ë Î·È Î·Ù¿ ‰Â‡ÙÂÚÔ ÏfiÁÔ ÁÈ· ÙË ıÂÚ·›· ÙÔ˘ ˘ÔΛÌÂÓÔ˘ ÚÔ‚Ï‹Ì·ÙÔ˜. µÈ‚ÏÈÔÁÚ·Ê›· 1. Friedman MJ, Sharieff GQ. Seizures in children. Pediatr Clin North Am 2006;53:257-277.

2. Hirtz D, Ashwal S, Berg A, Bettis D, Camfield C, Camfield Paediatriki 2008;71:201-209

P, et al. Practice parameter: evaluating a first nonfebrile seizure in children: report of the quality standards subcommittee of the American Academy of Neurology, The Child Neurology Society, and The American Epilepsy Society. Neurology 2000;55;616-623.

3. √lafsson ∂, Ludvigsson P, Gudmundsson G, Hesdorffer D, Kjartansson O, Hauser WA. Incidence of unprovoked seizures and epilepsy in Iceland and assessment of the epilepsy syndrome classification: a prospective study.

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4. Kotsopoulos I, de Crom M, Kessels F, Lodder J, Troost J, Twellaar M, et al. Incidence of epilepsy and predictive factors of epileptic and non-epileptic seizures. Seizure 2005;14:175-182.

5. Hirtz D, Berg A, Bettis D, Camfield C, Camfield P, Crumrine P, et al. Practice parameter: treatment of the child with a first unprovoked seizure: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2003;60;166-175.

6. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy.

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7. Rauchenzauner M, Haberlandt E, Foerster S, Ulmer H, Laimer M, Ebenbichler CF, et al. Brain-type natriuretic peptide secretion following febrile and afebrile seizures - a new marker in childhood epilepsy? Epilepsia 2007;48:101-106.

8. Caraballo RH, Fejerman N. Aetiologies of epilepsies. In: Panayiotopoulos CP. A practical guide to childhood epilepsies. The educational kit on epilepsies. Volume 1.

Medicinae; 2006. p. 27-32.

9. Arzimanoglou A, Guerrini R, Aicardi J, editors. Aicardi’s Epilepsy in Children. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 2004.

10. Engel J Jr; International League Against Epilepsy (ILAE). A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001;42:796-803.

11. Scarfone RJ, Pond K, Thompson K, Fall I. Utility of laboratory testing for infants with seizures. Pediatr Emerg Care 2000;16:309-312.

12. Farrar HC, Chande VT, Fitzpatrick DF, Shema SJ. Hyponatremia as the cause of seizures in infants: a retrospective analysis of incidence, severity, and clinical predictors.

Ann Emerg Med 1995;26:42-48.

13. Bloom E, Klein EJ, Shushan D, Feldman KW. Variable presentations of rickets in children in the emergency department. Pediatr Emerg Care 2004;20:126-130.

14. Keating JP, Schears GJ, Dodge PR. Oral water intoxication in infants. An American epidemic. Am J Dis Child 1991;145:985-990.

15. Saudubray JM, Nassogne MC, de Lonlay P, Touati G. Clinical approach to inherited metabolic disorders in neonates: an overview. Semin Neonatol 2002;7:3-15.

16. Sadleir LG, Connolly MB, Applegarth D, Hendson G, Clarke L, Rakshi C, et al. Spasms in children with definite and probable mitochondrial disease. Eur J Neurol 2004;11: 103-110.

17. Nissenkorn A, Zeharia A, Lev D, Watemberg N, FattalValevski A, Barash V, et al. Neurologic presentations of mitochondrial disorders. J Child Neurol 2000;15:44-48.

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18. Prego-Lopez M, Devinsky O. Evaluation of a first seizure.

Is it epilepsy? Postgrad Med 2002;111:34-36, 43-48.

19. Hoffmann GF, Surtees RA, Wevers RA. Cerebrospinal fluid investigations for neurometabolic disorders. Neuropediatrics 1998;29:59-71.

20. Stroink H, van Donselaar CA, Geerts AT, Peters AC, Brouwer OF, van Nieuwenhuizen O, et al. Interrater agreement of the diagnosis and classification of a first seizure in childhood. The Dutch Study of Epilepsy in Childhood. J Neurol Neurosurg Psychiatry 2004;75:241-245.

21. Gilbert DL, DeRoos S, Bare MA. Does sleep or sleep deprivation increase epileptiform discharges in pediatric electroencephalograms? Pediatrics 2004;114: 658-662.

22. Pohlmann-Eden B, Beghi E, Camfield C, Camfield P. The first seizure and its management in adults and children.

BMJ 2006;332:339-342.

23. Shinnar S, Kang H, Berg AT, Goldensohn ES, Hauser WA, Moshé SL. EEG abnormalities in children with a first unprovoked seizure. Epilepsia 1994;35:471-476.

24. Stroink H, Brouwer OF, Arts WF, Geerts AT, Peters AC, van Donselaar CA. The first unprovoked, untreated seizure in childhood: a hospital based study of the accuracy of the diagnosis, rate of recurrence and long term outcome after recurrence. Dutch study of epilepsy in childhood. J Neurol Neurosurg Psychiatry 1998;64:595-600.

25. Martinovicã Z, Jovicã N. Seizure recurrence after a first generalized tonic-clonic seizure, in children, adolescents and young adults. Seizure 1997;6:461-465.

26. Shinnar S, Berg AT, Moshe SL, O’Dell C, Alemany M, Newstein D, et al. The risk of seizure recurrence after a first unprovoked afebrile seizure in childhood: an extended follow-up. Pediatrics 1996;98:216-225.

27. Recommendations for neuroimaging of patients with epilepsy. Commission on Neuroimaging of the πnternational League Against Epilepsy. Epilepsia 1997;38:1255-1256.

28. Guissard G, Damry N, Dan B, David P, Sékhara T,

Ziereisen F, Christophe C. [Imaging in paediatric epilepsy]. Arch Pediatr 2005;12:337-346.

29. Sharma S, Riviello JJ, Harper MB, Baskin MN. The role of emergent neuroimaging in children with new-onset afebrile seizures. Pediatrics 2003;111:1-5.

30. McAbee GN, Barasch ES, Kurfist LA. Results of computed tomography in “neurologically normal” children after initial onset of seizures. Pediatr Neurol 1989;5:102-106.

31. Warden CR, Brownstein DR, Del Beccaro MA. Predictors of abnormal findings of computed tomography of the head in pediatric patients presenting with seizures. Ann Emerg Med 1997;29:518-523.

32. Beghi E, De Maria G, Gobbi G, Veneselli E. Diagnosis and treatment of the first epileptic seizure: guidelines of the Italian League against Epilepsy. Epilepsia 2006;47:2-8.

33. Gaillard WD, Weinstein S, Conry J, Pearl PL, Fazilat S, Vezina LG, et al. Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET. Neurology 2007;68:655-659.

34. Riviello JJ Jr, Ashwal S, Hirtz D, Glauser T, Ballaban-Gil K, Kelley K, et al. Practice parameter: diagnostic assessment of the child with status epilepticus (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2006;67;1542-1550.

35. Practice parameter: neuroimaging in the emergency patient presenting with seizure (summary statement). American College of Emergency Physicians, American Academy of Neurology, American Association of Neurological Surgeons, American Society of Neuroradiology. Ann Emerg Med 1996;28:114-118.

36. King MA, Newton MR, Jackson GD, Fitt GJ, Mitchell LA, Silvapulle MJ, et al. Epileptology of the first-seizure presentation: a clinical, electroencephalographic, and magnetic resonance imaging study of 300 consecutive patients.

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REVIEW ARTICLE

Behavioural and emotional problems in children with idiopathic generalized epilepsy and well-controlled seizures 1 Institute of Child Health, Department of Social & Developmental Paediatrics, “Aghia Sophia” Children’s Hospital, Athens, Greece 2 Department of Neurology, “P. & A. Kyriakou” Children’s Hospital, Athens, Greece Correspondence: Alexia Prassouli prasouli@hotmail.com Institute of Child Health, Department of Social & Developmental Paediatrics, “Aghia Sophia” Children’s Hospital, Athens, Greece

A. Prassouli1, A. Attilakos1, E. Katsarou2, J. Sarafidou1, S. Mastroyianni2, K. Voudris2, A. Skardoutsou2, I. Antoniadou1 Abstract Background: Children with epilepsy are at increased risk of developing behavioural and emotional problems. The aim of this study was to evaluate behavioural and emotional problems in children with idiopathic generalized epilepsy (IGE) and well-controlled seizures, and to investigate whether their problems are associated with demographic and epilepsy-related factors.

Methods: The study included 37 children (18 boys and 19 girls, mean age 8.29±1.00 years) with IGE treated with sodium valproate monotherapy, 22 of whom had generalized convulsive seizures and 15 absence epilepsy. All the children attended mainstream schools and their seizures were well controlled, with no seizures in the past year. The Child Behaviour Checklist (CBCL) by Achenbach was used to assess parentreported behavioural and emotional problems.

Results: The mean duration of epilepsy and treatment were 3.5±1.9 and 3.0±1.8 years, respectively. Sodium valproate levels were within therapeutic limits at the time of evaluation. Behavioural and emotional problems were found in 45.9% of the children, who had significantly higher scores on almost all syndrome scales (except Aggressive behaviour) and on Internalizing, Externalizing and Total problems scales. Male gender was correlated with high scores on the Anxious/Depressed (p=0.009), Social problems (p=0.033), Thought problems (p=0.002), Attention problems (p=0.004), Delinquent behaviour (p=0.015), Aggressive behaviour (p=0.003), Internalizing problems (0.039), Externalizing problems (p=0.003) and Total problems scales (p=0.012).

Conclusions: The study demonstrated a high prevalence of behavioural and emotional problems in children with IGE and well-controlled seizures. The findings emphasize the necessity of evaluating psychosocial problems in children with idiopathic epilepsy, even when their seizures are well controlled.

Key words: Behavioural problems, idiopathic generalized epilepsy, well-controlled seizures, children.

Abbreviations Idiopathic generalized epilepsy Child Behaviour Checklist Electroencephalogram

IGE CBCL EEG

Introduction Epilepsy is the most common paediatric neurological disorder, with a prevalence of about 0.5% to 1% of all children from birth to 16 years of age (1,2). It is a heterogeneous disorder that consists of clinical syndromes characterized by differences in the types of seizures, underlying aetiology, diagnostic criteria, treatment strategies and longitudinal outcome (3). Idiopathic epilepsy has a genetic origin and occurs in the absence of any macroscopic brain abnormalities, while symptomatic epilepsy results from one or more identifiable structural lesions of the brain (4).

It is now well accepted that childhood epilepsy is associated with high rates of behavioural problems and psychiatric disorders. The prevalence of mental health problems in chilPaediatriki 2008;71:210-214

dren with epilepsy ranges from 16% to 77% (5), compared with 11% in children with diabetes and 9% in the general paediatric population (6). Numerous investigators have attempted to identify specific factors contributing to and predictive of behavioural impairment in children with epilepsy, but with conflicting findings because investigation of the precise relationship between epilepsy and behavioural dysfunction is confounded by several variables, including the occurrence of seizures of various types, the pathophysiology underlying epilepsy, the underlying brain damage, the effect of antiepileptic drug treatment and family-related parameters (7,8). Neurological deficit, drug-resistant epilepsy and family-related factors have more often been found to be associated with the occurrence of behavioural disturbance in children with seizures (5-9). Idiopathic epilepsy is ideal for investigating the effects of the underlying “seizure condition” on behaviour, since it is not due to any specific brain lesion.

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Table 1. Demographic characteristics and medical epilepsyrelated variables of 37 children with IGE treated with sodium valproate monotherapy Sex (M/F) Age (mean±SD, years) Socio-economic status (low/medium/high) Generalized convulsive seizures (No of children) Absence epilepsy (No of children) Age at first seizure (mean±SD, years) Duration of epilepsy (mean±SD, years) Duration of abnormal EEG (mean±SD, years) Abnormal EEG at time of evaluation (No of children) Duration of therapy (mean±SD, years) Sodium valproate levels at time of evaluation (mg/L)

18/19 8.29±1.00 6/15/16 22 15 4.80±1.87 3.48±1.88 0.91±0.91 9/37 2.96±1.80 68.15±12.90

IGE= idiopathic generalized epilepsy, EEG= electroencephalogram, SD= standard deviation.

The aim of this study was to evaluate behavioural and emotional problems in a group of children with idiopathic generalized epilepsy (IGE) and well-controlled seizures and to investigate whether these problems are associated with demographic and epilepsyrelated factors.

Methods The study group consisted of 37 children with IGE treated with sodium valproate monotherapy, 22 with generalized convulsive seizures and 15 with absence epilepsy. All the children attended mainstream schools and their seizures were well controlled, with no seizures in the preceding year.

The study design was cross-sectional and it was approved by the Institutional Review Board. When the families arrived at the outpatient neurological office for the children’s regular follow-up appointments, the parents were approached about participating in the study. All the parents agreed to participate and gave written informed consent. The Child Behaviour Checklist (CBCL) by Achenbach (10) was used to assess parent-reported behavioural and emotional problems, using a Greek translation version and standardization provided by Roussos et al. (11).

The CBCL is a 113-item parental report used to obtain standardized reports of children’s behaviour as observed by parents. The CBCL allows for the evaluation of a total problem score, eight syndrome scales and two broadband groups of syndromes designated as internalizing (Withdrawn, Somatic Complaints and Anxious/Depressed) and externalizing (Aggressive Behaviour and Delinquent Behaviour Scales).

Social problems, Thought problems and Attention

Table 2. Numbers (N) and percentages (%) of 37 children with IGE with CBCL scores in the clinical range. Statistical comparison between the percentage of the children with IGE and the percentage of the healthy Greek children with CBCL scores in the clinical range CBCL scales Withdrawn Somatic Complaints Anxious/Depressed Social problems Thought problems Attention problems Delinquent behaviour Aggressive behaviour Internalizing problems Externalizing problems Total problems

Children with Healthy IGE children N (%) (%) 4 (10.8) 11 (29.7) 4 (10.8) 16 (43.2) 16 (43.2) 5 (13.5) 10 (27) 2 (5.4) 13 (35.1) 11 (29.7) 17 (45.9)

2 2 2 2 2 2 2 2 10 10 10

P <0.0001 <0.0001 <0.0001 <0.0001 <0.0001 <0.0001 <0.0001 0.139 <0.0001 <0.0001 <0.0001

IGE= idiopathic generalized epilepsy, CBCL= Child Behaviour Checklist.

problems are additional clinical scales. In addition to the clinical scales and to the internalizing and externalizing problem scales, three social competence scales (School Achievement, Peer Relation and Activities) are derived from the CBCL data. A parent rates the child on each item using an 0, 1, 2 scale (0= not true, 1 = sometimes true and 2 = often true) for behaviours in the preceding 6 months. Scores on eight clinical scales and three total scales were used as a dependent variable in the statistical analysis.

Data were expressed as mean ± SD values and were analyzed using the statistical package for social sciences (SPSS 13.0, Chicago IL). One-way analysis of variance (ANOVA) and t-tests were used to compare means and Spearman’s rank correlation coefficients were used to evaluate the association between CBCL t-scores and demographic and epilepsy-related variables.

Results The sample consisted of 18 boys and 19 girls, aged 6.5 to 10 years. The mean duration of epilepsy and treatment were 3.5±1.9 and 3.0±1.8 years, respectively. Sodium valproate levels were within therapeutic limits at the time of evaluation (68.1±12.9 mg/L). The demographic characteristics and medical epilepsy-related variables of the study group are shown in Table 1. No sex-based differences in medical epilepsy-related variables were observed.

The numbers and percentages of the children with IGE with CBCL scores in the clinical range, and the statistical difference between these percentages and the percentages of the healthy Greek children with ¶·È‰È·ÙÚÈ΋ 2008;71:210-214

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50% 40% 30% Idiopathic generalized epilepsy (N=37)

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Figure 1. Percentage (%) of children with idiopathic generalized epilepsy (N=37) and healthy children with CBCL scores in the clinical range.

CBCL scores in the clinical range are shown in Figure 1 and Table 2.

Behavioural and emotional problems were reported in 17 children (45.9%) (CBCL-Total score in the clinical range, p<0.0001), 4 children (10.8%) on the Withdrawn scale (p<0.0001), 11 children (29.7%) on the Somatic Complaints scale (p<0.0001), 4 children (10.8%) on the Anxious/Depressed scale (p<0.0001), 16 children (43.2%) on the Social and Thought problems scales (p<0.0001), 5 children (13.5%) on the Attention problems scale (p<0.0001), 10 children (27%) on the Delinquent behaviour scale (p<0.0001), 13 children (35.1%) on the Internalizing problems scale (p<0.0001) and 11 children (29.7%) on the Externalizing problems scale (p<0.0001) had scores in the clinical range.

Among demographic and epilepsy-related variables (see Table 1), only the male gender was correlated with high scores on the Anxious/Depressed scale (p=0.009), Social problems (p=0.033), Thought problems (p=0.002), Attention problems (p=0.004), Delinquent behaviour (p=0.015), Aggressive behaviour (p=0.003), Internalizing problems (0.039), Externalizing problems (p=0.003) and Total problems scale (p=0.012). Post-hoc subgroup analysis to assess whether there were differences in the CBCL scores between children with generalized tonic-clonic seizures and those with absence epilepsy was negative.

Discussion In this study behavioural and emotional problems were assessed in a group of Greek children with IGE Paediatriki 2008;71:210-214

and well-controlled seizures, and investigation was made of whether these problems were associated with specific epilepsy-related factors. A high proportion of children (45.9%) were found to have behavioural and emotional problems, using the CBCL instrument by Achenbach (10). These children had significantly elevated scores on almost all CBCL syndrome scales (with the exception of the Aggressive behaviour scale) and on the Internalizing, Externalizing and Total problems scales.

CBCL is the instrument most frequently used for assessing behavioural adjustment in patients with epilepsy. In a meta-analysis by Rondenburg et al. (12), 31 of 46 studies assessed behavioural and emotional problems using the CBCL. Furthermore, recent studies have shown that valid and reliable results can be obtained using the CBCL for children with epilepsy (13,14).

It is now accepted that children with epilepsy are at increased risk of behavioural problems compared with both children from the general population and children with other chronic illnesses not involving the central nervous system (5,8,9,12). The meta-analysis

by Rondenburg et al. (12), which included 2,434 children with epilepsy, indicated that attention problems, thought problems and social problems tended to be specific to children with epilepsy, while withdrawal, somatic complaints, anxiety/depression, delinquency and aggression were at a level similar to that found in their healthy siblings or in children with other chronic disorders. The prevalence of mental health problems

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in children with epilepsy ranges from 16% to 77%, depending on the study (5). This wide range of psychopathology probably reflects methodological differences between studies. Despite these differences, most authors agree that children with epilepsy have a 3 to 9 times higher risk for psychopathology than healthy children and children with non-neurological chronic illnesses.

The findings of this study are comparable with the results of other studies evaluating behaviour problems in children with epilepsy using the CBCL. The presence of behavioural disturbances has been demonstrated in 21-57% of children with epilepsy using CBCL in other studies (15-18). Although symptomatic epilepsy and drug-resistant epilepsy have more usually been associated with the occurrence of behavioural disturbance in children with seizures (5-9), this study showed that children with IGE and well-controlled seizures are also at higher risk for developing psychopathology compared with healthy children.

Several studies have shown that behavioural problems may precede, coincide with or follow a diagnosis of childhood epilepsy (5-9,15,16). A recent study documenting behaviour problems prior to the time of first recognition of seizures (15), suggests that for some children epilepsy is a pervasive condition that includes both seizures and behaviour difficulties. This may explain the high prevalence of behavioural and emotional problems found in this study group which consisted of children with IGE and well-controlled seizures. Regarding antiepileptic drug treatment, studies conducted on children treated with sodium valproate monotherapy have demonstrated minimal drug-related effects on behaviour (5-9).

Less is known about specific epilepsy- and nonepilepsy-related factors associated with mental health problems in childhood epilepsy. The majority of studies have failed to demonstrate that specific epilepsyrelated factors, such as age at seizure onset, seizure frequency, seizure type and lateralization of seizure focus, are predictors of psychopathology in children with epilepsy (5-9,19). Recent studies have shown moderating and mediated effects of family-related risk factors for the development of behaviour disturbance in children with epilepsy (20,21). This study did not show an association between behavioural problems and specific epilepsy-related factors, and only the male gender was found to be associated with the occurrence of mental health problems in these children with IGE and well-controlled seizures. These findings are in agreement with some earlier studies (22,23), although others reported that girls present more behavioural problems than boys (17,24).

There are limitations to this study: the number of patients studied was small and the cross-sectional design did not allow causal conclusions to be derived. In addition, the study design did not include assessment of family-related variables that are likely to contribute to the degree of psychosocial disturbances in children with epilepsy. The strengths of this study are the use of a validated and reliable instrument, namely the CBCL, and inclusion of a relatively homogeneous sample of children with IGE and well-controlled seizures.

In conclusion, the results of the present study demonstrated a high prevalence of behavioural and emotional problems in Greek children with IGE and well-controlled seizures. These results further support the potentially negative effect of the underlying “seizure condition” on behaviour and argue against the benign nature of IGE. Routine monitoring of psychological adjustment should be a standard part of the neurological follow-up of children with idiopathic epilepsy, even when their seizures are well controlled. Early intervention could prevent the additional disability that emotional and behavioural problems can cause and could improve the quality of life of these patients.

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2. Berg AT, Testa FM, Levy SR, Shinnar S. The epidemiology of epilepsy. Past, present, and future. Neurol Clin 1996; 14:383-398.

3. Shinnar S, Pellock JM. Update on the epidemiology and prognosis of pediatric epilepsy. J Child Neurol 2002;17: S4-S17.

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Epilepsy Res 2006;70:S5-S10.

5. Plioplys S, Dunn DW, Caplan R. 10-year research update review: psychiatric problems in children with epilepsy. J Am Acad Child Adolesc Psychiatry 2007;46:1389-1402.

6. Davies S, Heyman I, Goodman R. A population survey of mental health problems in children with epilepsy. Dev Med Child Neurol 2003;45:292-295.

7. Berg AT, Smith SN, Frobish D, Beckerman B, Levy SR, Testa FM, et al. Longitudinal assessment of adaptive behavior in infants and young children with newly diagnosed epilepsy: influences of etiology, syndrome, and seizure control. Pediatrics 2004;114:645-650.

8. Besag FM. Behavioral aspects of pediatric epilepsy syndromes. Epilepsy Behav 2004;5:S3-S13.

9. Austin JK, Caplan R. Behavioral and psychiatric comorbidities in pediatric epilepsy: toward an integrative model.

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10. Achenbach TM. Manual for the Child Behavior Checklist/4-18 and 1991 Profile. Burlington. VT: University of Vermont, Department of Psychiatry; 1991.

11. Roussos A, Karantanos G, Richardson C, Hartman C, Karajiannis D, Kyprianos S, et al. Achenbach's Child Behavior ¶·È‰È·ÙÚÈ΋ 2008;71:210-214

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Checklist and Teachers' Report Form in a normative sample of Greek children 6-12 years old. Eur Child Adolesc Psychiatry 1999;8:165-172.

12. Rodenburg R, Stams GJ, Meijer AM, Aldenkamp AP, Dekovicã M. Psychopathology in children with epilepsy: a meta-analysis. J Pediatr Psychol 2005;30:453-468.

13. Crijnen AA, Achenbach TM, Verhulst FC. Problems reported by parents of children in multiple cultures: the Child Behavior Checklist syndrome constructs. Am J Psychiatry 1999;156:569-574.

14. Gleissner U, Fritz NE, Von Lehe M, Sassen R, Elger CE, Helmstaedter C. The validity of the Child Behavior Checklist for children with epilepsy. Epilepsy Behav 2008;12:276-280.

15. Austin JK, Harezlak J, Dunn DW, Huster GA, Rose DF, Ambrosius WT. Behavior problems in children before first recognized seizures. Pediatrics 2001;107:115-122.

16. Dunn DW, Austin JK, Huster GA. Behaviour problems in children with new-onset epilepsy. Seizure 1997;6:283-287.

17. Austin JK, Dunn DW, Huster GA. Childhood epilepsy and asthma: changes in behavior problems related to gender and change in condition severity. Epilepsia 2000;41:615-623.

18. Dunn DW, Austin JK, Huster GA. Symptoms of depression in adolescents with epilepsy. J Am Acad Child Adolesc Psychiatry 1999;38:1132-1138.

Paediatriki 2008;71:210-214

19. Caplan R, Siddarth P, Gurbani S, Ott D, Sankar R, Shields WD. Psychopathology and pediatric complex partial seizures: seizure-related, cognitive, and linguistic variables.

Epilepsia 2004;45:1273-1281.

20. Austin JK, Dunn DW. Progressive behavioral changes in children with epilepsy. Prog Brain Res 2002;135:419-427.

21. Baum KT, Byars AW, deGrauw TJ, Johnson CS, Perkins SM, Dunn DW, et al. Temperament, family environment, and behavior problems in children with new-onset seizures. Epilepsy Behav 2007;10:319-327.

22. Ho/ ie B, Mykletun A, Sommerfelt K, Bjo/ rnaes H, Skeidsvoll H, Waaler PE. Seizure-related factors and non-verbal intelligence in children with epilepsy. A population-based study from Western Norway. Seizure 2005;14:223-231.

23. Hermann BP, Whitman S, Hughes JR, Melyn MM, Dell J. Multietiological determinants of psychopathology and social competence in children with epilepsy. Epilepsy Res 1988;2:51-60.

24. Austin JK, Risinger MW, Beckett LA. Correlates of behavior problems in children with epilepsy. Epilepsia 1992;33: 1115-1122.

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∂ƒ∂À¡∏∆π∫∏ ∂ƒ°∞™π∞

ORIGINAL ARTICLE

215

¶ÚfiÏË„Ë ÙˆÓ Î·Ú‰È·ÁÁÂÈ·ÎÒÓ ÓÔÛËÌ¿ÙˆÓ ·fi ÙËÓ ·È‰È΋ ËÏÈΛ· A. ÛÙÔÁÏÔ˘1, K. ª·Î¤‰Ô˘1, M. ∞ÓÙˆÓ›ÙÛË1, A. ∫Ô‡ÚÙ˘1, ™. µ·ÚÏ¿Ì˘2, °. µ·ÚÏ¿Ì˘2 ¶ÂÚ›ÏË„Ë ∂ÈÛ·ÁˆÁ‹: ™ÎÔfi˜ Ù˘ ·ÚÔ‡Û·˜ ÌÂϤÙ˘ ‹Ù·Ó Ë Û˘Û¯¤ÙÈÛË ÙˆÓ ÏÈȉ·ÈÌÈÎÒÓ ·Ú·Ì¤ÙÚˆÓ Î·È ÙÔ˘ ÈÛÙÔÚÈÎÔ‡ (·ÙÔÌÈÎÔ‡-ÔÈÎÔÁÂÓÂÈ·ÎÔ‡) ÙˆÓ ·È‰ÈÒÓ Ô˘ ÂÍÂÙ¿ÛÙËÎ·Ó ÛÙÔ π·ÙÚÂ›Ô ¶ÚfiÏ˄˘ ÙˆÓ ∫·Ú‰È·ÁÁÂÈ·ÎÒÓ ¡ÔÛËÌ¿ÙˆÓ ·fi ÙËÓ ¶·È‰È΋ ∏ÏÈΛ·. ÀÏÈÎfi Î·È Ì¤ıÔ‰ÔÈ: ∫·Ù¿ ÙÔ ¯ÚÔÓÈÎfi ‰È¿ÛÙËÌ· 1993-2007 ÌÂÏÂÙ‹ıËÎ·Ó 599 ·È‰È¿ (ÔÌ¿‰· ∞), Ì ıÂÙÈÎfi ÔÈÎÔÁÂÓÂÈ·Îfi ÈÛÙÔÚÈÎfi ηډȷÁÁÂÈ·ÎÔ‡ ÓÔÛ‹Ì·ÙÔ˜ ‹ ˘ÂÚÏÈȉ·ÈÌ›·˜ Î·È 96 ·È‰È¿ ¯ˆÚ›˜ ·Ó¿ÏÔÁÔ ÔÈÎÔÁÂÓÂÈ·Îfi ÈÛÙÔÚÈÎfi (ÔÌ¿‰· µ), ËÏÈΛ·˜ 2-18 ÂÙÒÓ (̤ÛË ÙÈÌ‹ 9,5 ¤ÙË). °È· οı ·È‰› ÚÔÛ‰ÈÔÚ›ÛÙËÎ·Ó Ù· Â›‰· ÔÚÔ‡ ÁÈ· ÙËÓ ÔÏÈ΋ ¯ÔÏËÛÙÂÚfiÏË (TC), ÙËÓ HDL-¯ÔÏËÛÙÂÚfiÏË (HDL-C), ÙËÓ LDL-¯ÔÏËÛÙÂÚfiÏË (LDL-C), Ù· ÙÚÈÁÏ˘ÎÂÚ›‰È· (TG), ÙËÓ ·ÔÏÈÔÚˆÙ½ÓË ∞1 (Apo-A1), ÙËÓ ·ÔÏÈÔÚˆÙ½ÓË µ100 (Apo B100) Î·È ÙË ÏÈÔÚˆÙ½ÓË (·) [Lp(a)]. ∞ÔÙÂϤÛÌ·Ù·: ™Ù· ·È‰È¿ Ù˘ ÔÌ¿‰·˜ ∞, ÔÈ Ì¤Û˜ ÙÈ̤˜ ± SD ‹Ù·Ó: ÔÏÈ΋ ¯ÔÏËÛÙÂÚfiÏË (TC) 213,2±69,5 mg/dl, LDL-¯ÔÏËÛÙÂÚfiÏË 140,8±67,7 mg/dl Î·È Lp(a) 31,3±27,6 mg/dl. √È ÙÈ̤˜ ÙˆÓ ·Ú·Ì¤ÙÚˆÓ ·˘ÙÒÓ ÁÈ· ÙËÓ ÔÌ¿‰· µ ‹Ù·Ó TC 190,2±55,1 mg/dl, LDL-C 117,9±47,4 mg/dl Î·È Lp(a) 20±17,5 mg/dl. ™Ù·ÙÈÛÙÈο ÛËÌ·ÓÙÈ΋ ‰È·ÊÔÚ¿ ÌÂٷ͇ ÙˆÓ ‰‡Ô ÔÌ¿‰ˆÓ ·ÚÔ˘Û›·Û·Ó Ù· Â›‰· Ù˘ TC, Ù˘ LDL-C Î·È Ù˘ Lp(a) (p<0,05). ∞fi Ù· ·È‰È¿ Ù˘ ÔÌ¿‰·˜ ∞, ÙÔ 24,6% ›¯·Ó ÌÂÙÚ›Ô˘ ‚·ıÌÔ‡ (TC=170-199 mg/dl) Î·È ÙÔ 45,4% ˘„ËÏÔ‡ ‚·ıÌÔ‡ (TC≥200 mg/dl) ÂÈÎÈÓ‰˘ÓfiÙËÙ· ÁÈ· ÌÂÏÏÔÓÙÈ΋ ÂÌÊ¿ÓÈÛË Î·Ú‰È·ÁÁÂÈ·ÎÒÓ ÓÔÛËÌ¿ÙˆÓ. ™˘ÌÂÚ¿ÛÌ·Ù·: T· Â›‰· Ù˘ TC, Ù˘ LDL-C Î·È Ù˘ Lp(a) Û ıÂÙÈÎfi ÔÈÎÔÁÂÓÂÈ·Îfi ÈÛÙÔÚÈÎfi ÁÈ· ηډȷÁÁÂȷο ÓÔÛ‹Ì·Ù· ‹ ˘ÂÚÏÈȉ·ÈÌ›· Â›Ó·È ·˘ÍË̤ӷ. ∫Ú›ÓÂÙ·È fiÙÈ Â›Ó·È ··Ú·›ÙËÙË Ë ‰ÈÂÚ‡ÓËÛË ÙÔ˘ ÏÈȉ·ÈÌÈÎÔ‡ ÚÔÊ›Ï ÛÙ· ·È‰È¿ ·˘Ù¿, ÒÛÙ ӷ Á›ÓÂÙ·È ¤ÁηÈÚ· Ë ·Ó·ÁÓÒÚÈÛË Î·È ·ÓÙÈÌÂÙÒÈÛË ÙˆÓ ·È‰ÈÒÓ Ô˘ ÂÌÊ·Ó›˙Ô˘Ó ÚԉȷıÂÛÈÎÔ‡˜ ·Ú¿ÁÔÓÙ˜ ÁÈ· ÙËÓ ·Ó¿Ù˘ÍË ·ıËÚÔÛÎÏ‹ÚˆÛ˘.

1 ∆·ÎÙÈÎfi ∂͈ÙÂÚÈÎfi π·ÙÚÂ›Ô ¶ÚfiÏ˄˘ ∫·Ú‰È·ÁÁÂÈ·ÎÒÓ ¡ÔÛËÌ¿ÙˆÓ ·fi ÙËÓ ¶·È‰È΋ ∏ÏÈΛ·, µ’ ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋ ∞¶£, ¶·ÓÂÈÛÙËÌÈ·Îfi ¡ÔÛÔÎÔÌÂ›Ô ∞Ã∂¶∞ 2 ¢’ ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋ ∞¶£, ¡ÔÛÔÎÔÌÂ›Ô ¶··ÁˆÚÁ›Ô˘ AÏÏËÏÔÁÚ·Ê›·: ∞ÚÂÙ‹ ÛÙÔÁÏÔ˘ aretimak@med.auth.gr ∆·ÎÙÈÎfi ∂͈ÙÂÚÈÎfi π·ÙÚÂ›Ô ¶ÚfiÏ˄˘ ∫·Ú‰È·ÁÁÂÈ·ÎÒÓ ¡ÔÛËÌ¿ÙˆÓ ·fi ÙËÓ ¶·È‰È΋ ∏ÏÈΛ·, µ’ ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋ ∞¶£, ¶·ÓÂÈÛÙËÌÈ·Îfi ¡ÔÛÔÎÔÌÂ›Ô ∞Ã∂¶∞, £ÂÛÛ·ÏÔÓ›ÎË

§¤ÍÂȘ ÎÏÂȉȿ: §Èȉ·ÈÌÈÎfi ÚÔÊ›Ï, ηډȷÁÁÂȷο ÓÔÛ‹Ì·Ù·, ÚfiÏË„Ë.

Prevention of cardiovascular disease from childhood A. Hitoglou1, K. Makedou1, M. Antonitsi1, A. Kourtis1, S. Varlamis2, G. Varlamis2 Abstract Objectives: The aim of this study was to investigate the relationship between lipid parameters and history (personal-family) of the children in the Outpatient Clinic for Cardiovascular Disease Prevention.

Methods: Between 1993 and 2007, 599 children with a positive family history of cardiovascular disease or hyperlipidaemia (Group A) were evaluated for serum levels of total cholesterol (TC), LDL-cholesterol (LDL-C), HDL-cholesterol (HDL-C), triglycerides (TG), apolipoprotein B100 (apoB100), apolipoprotein A1 (apoA1) and lipoprotein (a) [Lp(a)]. Their levels were compared with those of a control group of 96 children of comparable age (Group B).

Results: In Group A, the mean levels ± SD were: TC 213.2±69.5 mg/dl, LDL-C 40.8±67.7 mg/dl and Lp(a) 31.3±27.6 mg/dl. In group B, the corresponding levels were: 190.2±55.1 mg/dl, 117.9±47.4 mg/dl and 20±17.5 mg/dl, respectively, which were all significantly lower than those of Group A (p<0.05). In group A, 24.6% of the children of were at intermediate risk (TC 170-199 mg/dl) and 45.4% at high risk (TC≥200 mg/dl) for cardiovascular disease.

Conclusions: Children with a positive family history for cardiovascular disease or hyperlipidaemia are likely to have high levels of TC, LDL-C and Lp(a). Evaluation of the serum lipid parameters in these children is necessary in order to recognize those at high risk for atherosclerosis.

1 Outpatient Clinic for Cardiovascular Disease Prevention, 2nd Department of Paediatrics of the Aristotle University of Thessaloniki, AHEPA University Hospital 2 4th Department of Paediatrics of the Aristotle University of Thessaloniki, Papageorgiou Hospital Correspondence: Areti Hitoglou aretimak@med.auth.gr Outpatient Clinic for Cardiovascular Disease Prevention, 2nd Department of Paediatrics of the Aristotle University of Thessaloniki, AHEPA University Hospital, Thessaloniki, Greece

Key words: Prevention, cardiovascular disease, lipids.

Œ·ıÏÔ ¢ÔÍÈ¿‰Ë ∫ÔÈÓˆÓÈ΋˜ ¶·È‰È·ÙÚÈ΋˜, 45Ô ¶·ÓÂÏÏ‹ÓÈÔ ™˘Ó¤‰ÚÈÔ, 25-27 ª·˝Ô˘ 2007, ÷ÏÎȉÈ΋ ¶·È‰È·ÙÚÈ΋ 2008;71:215-218

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216

A. ÛÙÔÁÏÔ˘ Î·È Û˘Ó.

∂ÈÛ·ÁˆÁ‹ ∆· ηډȷÁÁÂȷο ÓÔÛ‹Ì·Ù· ·ÔÙÂÏÔ‡Ó Ì›· ·fi ÙȘ ΢ÚÈfiÙÂÚ˜ ·Èٛ˜ ·‡ÍËÛ˘ Ù˘ ıÓËÛÈÌfiÙËÙ·˜ Î·È Ù˘ ıÓËÙfiÙËÙ·˜ ÛÙȘ ‰˘ÙÈΤ˜ ÎÔÈӈӛ˜ ηٿ ÙȘ ÙÚÂȘ ÙÂÏÂ˘Ù·›Â˜ ‰ÂηÂٛ˜. ªÂϤÙ˜ ¤¯Ô˘Ó ‰Â›ÍÂÈ fiÙÈ Ë ‰ËÌÈÔ˘ÚÁ›· ·ıËڈ̷ÙÈÎÒÓ ·ÏÏÔÈÒÛÂˆÓ ÛÙËÓ ·ÔÚÙ‹ Î·È Ù· ÛÙÂÊ·ÓÈ·›· ·ÁÁ›· ÍÂÎÈÓ¿ ‹‰Ë ·fi ÙËÓ ËÏÈΛ· ÙˆÓ ‰‡Ô ÂÙÒÓ (1,2). √È ·Ú¿ÁÔÓÙ˜ Ô˘ Û˘Ì‚¿ÏÏÔ˘Ó ÛÙË ‰ÈÂÚÁ·Û›· Ù˘ ·ıËڈ̿وÛ˘ ‰È·ÎÚ›ÓÔÓÙ·È Û ÏÈȉ·ÈÌÈÎÔ‡˜ Î·È ÌË ÏÈȉ·ÈÌÈÎÔ‡˜. ™ÙÔ˘˜ ÏÈȉ·ÈÌÈÎÔ‡˜ ·Ó‹ÎÔ˘Ó Ë ·˘ÍË̤ÓË ÔÏÈ΋ ¯ÔÏËÛÙÂÚfiÏË (TC), Ë ·˘ÍË̤ÓË LDL-¯ÔÏËÛÙÂÚfiÏË (LDL-C), Ë ¯·ÌËÏ‹ HDL-¯ÔÏËÛÙÂÚfiÏË (HDL-C), Ù· ·˘ÍË̤ӷ ÙÚÈÁÏ˘ÎÂÚ›‰È· (TG) Î·È Ë ·˘ÍË̤ÓË ÏÈÔÚˆÙ½ÓË (·) [Lp(·)]. ªÂÁ¿Ï˜ ÂȉËÌÈÔÏÔÁÈΤ˜ ÌÂϤÙ˜ Û ÂÓ‹ÏÈΘ, fiˆ˜ Ë Framingham (3), Ë µÚÂÙ·ÓÈ΋ ∫·Ú‰ÈÔÏÔÁÈ΋ ªÂϤÙË (4) Î·È Ë ÌÂϤÙË MRFIT (5), ¤¯Ô˘Ó ‰Â›ÍÂÈ fiÙÈ Ë ·˘ÍË̤ÓË ¯ÔÏËÛÙÂÚfiÏË ÙÔ˘ ·›Ì·ÙÔ˜ ·ÔÙÂÏ› ¤Ó· ÛËÌ·ÓÙÈÎfi Î·È ·ÓÂÍ¿ÚÙËÙÔ ·Ú¿ÁÔÓÙ· ÎÈÓ‰‡ÓÔ˘ ÁÈ· Ù· ηډȷÁÁÂȷο ÓÔÛ‹Ì·Ù·, ·ÊÔ‡ ·‡ÍËÛË Ù˘ ¯ÔÏËÛÙÂÚfiÏ˘ ηٿ 1% Û˘ÓÂ¿ÁÂÙ·È ·‡ÍËÛË ÙÔ˘ ÎÈÓ‰‡ÓÔ˘ ÁÈ· ηډȷÁÁÂȷο ÓÔÛ‹Ì·Ù· ηٿ 2%. ™ÙÔ˘˜ ÌË ÏÈȉ·ÈÌÈÎÔ‡˜ ·Ú¿ÁÔÓÙ˜ ÎÈÓ‰‡ÓÔ˘ ·Ó‹ÎÔ˘Ó Ë ˘¤ÚÙ·ÛË, Ô Û·Î¯·Ú҉˘ ‰È·‚‹Ù˘, ÙÔ Î¿ÓÈÛÌ·, ÙÔ Ê‡ÏÔ, Ë ËÏÈΛ·, Ë ·¯˘Û·ÚΛ·, Ë ·Ô˘Û›· ¿ÛÎËÛ˘ Î·È ÙÔ ıÂÙÈÎfi ÔÈÎÔÁÂÓÂÈ·Îfi ÈÛÙÔÚÈÎfi ÁÈ· ηډȷÁÁÂȷο ÓÔÛ‹Ì·Ù·. ªÂ ÛÎÔfi ÙËÓ ÚfiÏË„Ë ÙˆÓ ∫·Ú‰È·ÁÁÂÈ·ÎÒÓ ¡ÔÛËÌ¿ÙˆÓ ·fi ÙËÓ ¶·È‰È΋ ∏ÏÈΛ· ÏÂÈÙÔ˘ÚÁ› ∆·ÎÙÈÎfi ∂͈ÙÂÚÈÎfi π·ÙÚÂ›Ô ·fi ÙÔ 1993. ∏ ·ÚÔ‡Û· ÌÂϤÙË Û¯Â‰È¿ÛÙËΠ̠ÛÙfi¯Ô ÙË Û˘Û¯¤ÙÈÛË ÙˆÓ ÏÈȉ·ÈÌÈÎÒÓ ·Ú·Ì¤ÙÚˆÓ Î·È ÙÔ˘ ÈÛÙÔÚÈÎÔ‡ (·ÙÔÌÈÎÔ‡-ÔÈÎÔÁÂÓÂÈ·ÎÔ‡) ÙˆÓ ·È‰ÈÒÓ Ô˘ ÂÍÂÙ¿ÛÙËÎ·Ó ÛÙÔ ∆·ÎÙÈÎfi ∂͈ÙÂÚÈÎfi π·ÙÚ›Ô. ÀÏÈÎfi Î·È Ì¤ıÔ‰ÔÈ ∫·Ù¿ ÙÔ ¯ÚÔÓÈÎfi ‰È¿ÛÙËÌ· 1993-2007 ÛÙÔ ∆·ÎÙÈÎfi ∂͈ÙÂÚÈÎfi π·ÙÚÂ›Ô ¶ÚfiÏ˄˘ ÙˆÓ ∫·Ú‰È·ÁÁÂÈ·ÎÒÓ ¡ÔÛËÌ¿ÙˆÓ ·fi ÙËÓ ¶·È‰È΋ ∏ÏÈΛ· ÚÔÛ‹Ïı·Ó 599 ·È‰È¿ (ÔÌ¿‰· ∞), Ì ıÂÙÈÎfi ÔÈÎÔÁÂÓÂÈ·Îfi ÈÛÙÔÚÈÎfi ηډȷÁÁÂÈ·ÎÔ‡ ÓÔÛ‹Ì·ÙÔ˜ ‹ ˘ÂÚÏÈȉ·ÈÌ›·˜, ËÏÈΛ·˜ 2-18 ÂÙÒÓ (̤ÛË ÙÈÌ‹ 9,5 ¤ÙË). ø˜ ıÂÙÈÎfi ÔÈÎÔÁÂÓÂÈ·Îfi ÈÛÙÔÚÈÎfi ıˆڋıËÎÂ Ë ÁÔÓÈ΋ ˘ÂÚÏÈȉ·ÈÌ›·, Ë ÚÒÈÌË (30-55 ÂÙÒÓ) ‹ Ë fi„ÈÌË (>55 ÂÙÒÓ) ÂÌÊ¿ÓÈÛË ÛÙÂÊ·ÓÈ·›·˜ ÓfiÛÔ˘, Û˘ÌÂÚÈÏ·Ì‚·ÓÔÌ¤ÓˆÓ ÙÔ˘ ÂÌÊÚ¿ÁÌ·ÙÔ˜ ÙÔ˘ Ì˘Ôηډ›Ô˘ ‹ ÙÔ˘ ı·Ó¿ÙÔ˘ ·fi ηډȷ΋ ÚÔÛ‚ÔÏ‹, ‹ ÂÌÊ¿ÓÈÛË ¿ÏÏÔ˘ ηډȷÁÁÂÈ·ÎÔ‡ ÓÔÛ‹Ì·ÙÔ˜ (.¯. ·ÁÁÂÈ·Îfi ÂÁÎÂÊ·ÏÈÎfi ÂÂÈÛfi‰ÈÔ) ÛÙÔ˘˜ ÁÔÓ›˜, ÙÔÓ ·Ô‡ ‹ ÙË ÁÈ·ÁÈ¿ ÙÔ˘ ·È‰ÈÔ‡. ∫·Ù¿ ÙËÓ ÚÒÙË Â›ÛÎÂ„Ë ÙˆÓ ·È‰ÈÒÓ ÛÙÔ π·ÙÚ›Ô, ¤ÁÈÓ ÚÔÛ‰ÈÔÚÈÛÌfi˜ ÙˆÓ ÏÈȉ·ÈÌÈÎÒÓ ·Ú·Ì¤ÙÚˆÓ, ‡ÛÙÂÚ· ·fi 12ˆÚË ÓËÛÙ›·, Î·È Ï‹„Ë ÙÔ˘ ·ÙÔÌÈÎÔ‡ Î·È ÔÈÎÔÁÂÓÂÈ·ÎÔ‡ ÈÛÙÔÚÈÎÔ‡. ŸÏ· Ù· ·È‰È¿ ›¯·Ó Ê˘ÛÈÔÏÔÁÈ΋ ·Ó¿Ù˘ÍË. ∏ ÎÏÈÓÈ΋ ÂͤٷÛË ÂÚÈÏ¿Ì‚·Ó ̤ÙÚËÛË ÙÔ˘ ‚¿ÚÔ˘˜, ÙÔ˘ ‡„Ô˘˜ Î·È Ù˘ ·ÚÙËÚȷ΋˜ ›ÂÛ˘. ∏ ÔÌ¿‰· ·˘Ù‹ Û˘ÁÎÚ›ıËΠ̠ÔÌ¿‰· 96 ˘ÁÈÒÓ, ηډÈÔÏÔÁÈο, ·È‰ÈÒÓ Ì ·ÚÓËÙÈÎfi ÔÈÎÔÁÂÓÂÈ·Îfi Paediatriki 2008;71:215-218

¶›Ó·Î·˜ 1. §Èȉ·ÈÌÈÎfi ÚÔÊ›Ï Û ·È‰È¿ Ì ıÂÙÈÎfi ÔÈÎÔÁÂÓÂÈ·Îfi ÈÛÙÔÚÈÎfi Î·È Ì¿ÚÙ˘Ú˜.

TC (mg/dl) TG (mg/dl) HDL-C (mg/dl) LDL-C (mg/dl) Apo-A1 (g/l) ApoB100 (g/l) Lp(a) (mg/dl)

√Ì¿‰· ∞ (n=599)

√Ì¿‰· µ (n=96)

p

213,2±69,50 85,0±41,10 59,8±18,60 140,8±67,70 1,4±0,35 1,1±0,45 31,3±27,60

190,2±55,10 75,1±44,40 57,4±18,80 117,9±47,40 1,5±0,34 0,9±0,34 20,0±17,50

<0,05 ns ns <0,05 ns ns <0,05

ns = non significant (ÌË ÛÙ·ÙÈÛÙÈο ÛËÌ·ÓÙÈÎfi)

ÈÛÙÔÚÈÎfi (ÔÌ¿‰· µ), ·Ó¿ÏÔÁÔ˘ ‡ÚÔ˘˜ ËÏÈΛ·˜, ¯ˆÚ›˜ ¿ÏÏÔ˘˜ ·Ú¿ÁÔÓÙ˜ ÎÈÓ‰‡ÓÔ˘ ‹ ·ı‹ÛÂȘ ‹·ÙÔ˜, ÓÂÊÚÒÓ ‹ ı˘ÚÂÔÂȉԇ˜, Ù· ÔÔ›· ÂÈÛ‹¯ıËÛ·Ó ÛÙË µã ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋. ¶ÚÔÛ‰ÈÔÚ›ÛÙËÎ·Ó ÂÓ˙˘Ì·ÙÈο ÛÙÔÓ ÔÚfi ÙˆÓ ·ÙfiÌˆÓ Î·È ÙˆÓ ‰‡Ô ÔÌ¿‰ˆÓ Ù· Â›‰· Ù˘ TC, ÙˆÓ TG, Ù˘ HDL-C Î·È Ù˘ LDL-C Ì ÙÔÓ ·˘ÙfiÌ·ÙÔ ·Ó·Ï˘Ù‹ Hitachi 911, Ù˘ ÂÙ·ÈÚ›·˜ Roche Diagnostics GmbH. √È ·ÔÚˆÙ½Ó˜, ApoAI Î·È ApoB100, Î·È Ë Lp(a) ÚÔÛ‰ÈÔÚ›ÛÙËÎ·Ó ÓÂÊÂÏÔÌÂÙÚÈο, Ì ÓÂÊÂÏfiÌÂÙÚÔ Ù˘ ÂÙ·ÈÚ›·˜ Dade Behring. √È Ê˘ÛÈÔÏÔÁÈΤ˜ ÙÈ̤˜ Ô˘ ¯ÚËÛÈÌÔÔÈ‹ıËÎ·Ó ÁÈ· ÙËÓ ÂÎÙ›ÌËÛË ÙˆÓ ·ÔÙÂÏÂÛÌ¿ÙˆÓ Û ·È‰È¿ Î·È ÂÊ‹‚Ô˘˜ Â›Ó·È ÂΛӘ Ô˘ ÚÔÙ›ÓÂÈ ÙÔ National Cholesterol Education Program (NCEP) (6), ‰ËÏ·‰‹ TC<170 md/dl, TG Î·È LDL-C<110 md/dl, Î·È HDL-C≥45 md/dl. ¶ÚÔÛ‰ÈÔÚ›ÛÙËÎ·Ó Â›Û˘ Ë TSH Î·È Ë ÙÚÈȈ‰Ôı˘ÚÔÓ›ÓË. ™Ù·ÙÈÛÙÈ΋ ·Ó¿Ï˘ÛË °È· ÙË ÛÙ·ÙÈÛÙÈ΋ ·Ó¿Ï˘ÛË ¯ÚËÛÈÌÔÔÈ‹ıËΠÙÔ ÚfiÁÚ·ÌÌ· SPSS for Windows, v. 13.0. °È· ÙË Û‡ÁÎÚÈÛË ÙˆÓ ÔÛÔÙÈÎÒÓ ÌÂÙ·‚ÏËÙÒÓ ·Ó¿ÌÂÛ· ÛÙȘ ‰‡Ô ÔÌ¿‰Â˜, ¯ÚËÛÈÌÔÔÈ‹ıËΠÙÔ student’s t-test. ™Ù·ÙÈÛÙÈ΋ ÛËÌ·ÓÙÈÎfiÙËÙ· ıˆڋıËΠÁÈ· p<0,05.

∞ÔÙÂϤÛÌ·Ù· √È ÙÈ̤˜ ÙÔ˘ ÏÈȉ·ÈÌÈÎÔ‡ ÚÔÊ›Ï Ù˘ ÔÌ¿‰·˜ ÂϤÁ¯Ô˘ Î·È ÙˆÓ Ì·ÚÙ‡ÚˆÓ ·ÚÔ˘ÛÈ¿˙ÔÓÙ·È ÛÙÔÓ ¶›Ó·Î· 1. ∞fi Ù· 599 ·È‰È¿ Ù˘ ÔÌ¿‰·˜ ∞, ÙÈ̤˜ TC≥170 mg/dl, LDL-C≥110 mg/dl Î·È Lp(a)>25 mg/dl ·ÚÔ˘Û›·˙ ÙÔ 71% (n=425), ÙÔ 61% (n=365) Î·È ÙÔ 44% (n=264), ·ÓÙ›ÛÙÔȯ·. ∏ TSH Î·È Ë ÙÚÈȈ‰Ôı˘ÚÔÓ›ÓË ‹Ù·Ó Û fiÏ· Ù· ·È‰È¿ ÂÓÙfi˜ ÙˆÓ Ê˘ÛÈÔÏÔÁÈÎÒÓ ÂÈ¤‰ˆÓ. ∞Ó·ÊÔÚÈο Ì ÙËÓ ÂÈÎÈÓ‰˘ÓfiÙËÙ· ÁÈ· ÌÂÏÏÔÓÙÈ΋ ÂÌÊ¿ÓÈÛË Î·Ú‰È·ÁÁÂÈ·ÎÒÓ ÓÔÛËÌ¿ÙˆÓ Ì ‚¿ÛË ÙȘ ÙÈ̤˜ Ù˘ ÔÏÈ΋˜ ¯ÔÏËÛÙÂÚfiÏ˘, ·fi Ù· ·È‰È¿ Ù˘ ÔÌ¿‰·˜ ∞ ÙÔ 24,6% ›¯·Ó ÌÂÙÚ›Ô˘ ‚·ıÌÔ‡ (TC=170-199 mg/dl) Î·È ÙÔ 45,4% ˘„ËÏÔ‡ ‚·ıÌÔ‡ (TC≥200 mg/dl) ÂÈÎÈÓ‰˘ÓfiÙËÙ·. ∞Ó¿ÌÂÛ· ÛÙ· ‰‡Ô ʇϷ ‰ÂÓ ·Ú·ÙËÚ‹ıËΠη̛· ÛËÌ·ÓÙÈ΋ ‰È·ÊÔÚ¿ ÛÙ· Â›‰· ÙˆÓ ÏÈȉ›ˆÓ. ™˘ÁÎÚ›ÓÔÓÙ·˜ ÙȘ ÙÈ̤˜ ÙˆÓ ÏÈȉ›ˆÓ Î·È ÙˆÓ ÏÈÔÚˆÙÂ˚ÓÒÓ ·Ó¿ÌÂÛ· ÛÙȘ ‰‡Ô ÔÌ¿‰Â˜, ÛÙ·ÙÈÛÙÈο ÛËÌ·ÓÙÈο ·˘ÍË̤ӷ ·ÚÔ˘ÛÈ¿ÛÙËÎ·Ó Ù· Â›‰· TC,

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·217

217

¶ÚfiÏË„Ë Î·Ú‰È·ÁÁÂÈ·ÎÒÓ ÓÔÛËÌ¿ÙˆÓ Û ·È‰È¿

LDL-C Î·È Lp(a) (p<0,05) ÛÙ· ·È‰È¿ Ù˘ ÔÌ¿‰·˜ ∞ (¶›Ó·Î·˜ 1), Ì Ôχ ÛËÌ·ÓÙÈ΋ ıÂÙÈ΋ Û˘Û¯¤ÙÈÛË È‰È·›ÙÂÚ· ÛÙȘ ÙÈ̤˜ Ù˘ LDL-C Î·È Ù˘ Lp(a) (p<0,05). ∞Í›˙ÂÈ Ó· ÛËÌÂȈı› fiÙÈ ·Ó¿ÌÂÛ· ÛÙ· ·È‰È¿ Ô˘ ÂÍÂÙ¿ÛÙËÎ·Ó ÛÙÔ ∂͈ÙÂÚÈÎfi π·ÙÚÂ›Ô ˘‹Ú¯·Ó 8 ·È‰È¿ Ì ÁÂÓÂÙÈο ηıÔÚÈṲ̂ÓË ‰˘ÛÏÈȉ·ÈÌ›·, ‰‡Ô ÔÌÔ˙˘ÁÒÙ˜ Î·È ¤ÍÈ ÂÙÂÚÔ˙˘ÁÒÙ˜ ÔÈÎÔÁÂÓÔ‡˜ ˘ÂÚÏÈȉ·ÈÌ›·˜, ηıÒ˜ Î·È ‰‡Ô ·È‰È¿ Ì ˘ÂÚÙÚÈÁÏ˘ÎÂÚȉ·ÈÌ›·, ÏfiÁˆ ¤ÏÏÂȄ˘ Ù˘ ÏÈÔÚˆÙÂ˚ÓÈ΋˜ ÏÈ¿Û˘.

™˘˙‹ÙËÛË ∆· ·˘ÍË̤ӷ Â›‰· Ù˘ ¯ÔÏËÛÙÂÚfiÏ˘ Û¯ÂÙ›˙ÔÓÙ·È Ì ÙË ‰ËÌÈÔ˘ÚÁ›· ·ıËڈ̷ÙÈÎÒÓ ·ÏÏÔÈÒÛÂˆÓ ·fi ÙËÓ ·È‰È΋ ËÏÈΛ· (7,8). ∆Ô ÂӉȷʤÚÔÓ ÙˆÓ ÂÈÛÙËÌfiÓˆÓ ¤¯ÂÈ Î·Ù¢ı˘Óı› ÚÔ˜ ÙË ‰ÈÂÚ‡ÓËÛË ÙˆÓ ÏÈÔÚˆÙÂ˚ÓÒÓ Û ·È‰È¿, ÂÊ‹‚Ô˘˜ Î·È Ó·ÚÔ‡˜ ÂÓ‹ÏÈΘ Î·È ÙË Û˘Û¯¤ÙÈÛ‹ ÙÔ˘˜ Ì ÙË ‰ËÌÈÔ˘ÚÁ›· Ù˘ ·ıËÚÔÛÎÏ‹ÚˆÛ˘ (9,10). ∏ ¤ÁηÈÚË ·Ó·ÁÓÒÚÈÛË ÙˆÓ ·È‰ÈÒÓ Ô˘ ¤¯Ô˘Ó ·˘ÍË̤ÓÔ Î›Ó‰˘ÓÔ ÛÙÔ Ì¤ÏÏÔÓ Ó· ÂÌÊ·Ó›ÛÔ˘Ó Î·Ú‰È·ÁÁÂÈ·Îfi ÓfiÛËÌ· Â›Ó·È ¤Ó· Ôχ ÛËÌ·ÓÙÈÎfi ‚‹Ì· ÛÙËÓ ÚfiÏË„Ë ÙˆÓ ÓÔÛËÌ¿ÙˆÓ ·˘ÙÒÓ. ™Ù· ·ÔÙÂϤÛÌ·Ù¿ Ì·˜, ÔÈ ÙÈ̤˜ ÙˆÓ ÏÈȉ›ˆÓ Î·È ÙˆÓ ÏÈÔÚˆÙÂ˚ÓÒÓ ‰ÂÓ ‰È¤ÊÂÚ·Ó ÛËÌ·ÓÙÈο ·Ó¿ÌÂÛ· ÛÙ· ‰‡Ô ʇϷ ÛÙËÓ ÔÌ¿‰· ∞ Î·È ·˘Ùfi ÙÔ Â‡ÚËÌ· Û˘ÌʈÓ› Ì ¿ÏϘ ÌÂϤÙ˜ (11). ∆· ·È‰È¿ Ù˘ ÔÌ¿‰·˜ ∞ ›¯·Ó ˘„ËÏfiÙÂÚ· Â›‰· ·ıËÚÔÁfiÓˆÓ ÏÈȉ›ˆÓ (TC, LDL-C) Î·È Lp(a) Û ۇÁÎÚÈÛË Ì ÙÔ˘˜ Ì¿ÚÙ˘Ú˜, Û˘ÌʈÓÒÓÙ·˜ Ì ·Ï·ÈfiÙÂÚ˜ ÌÂϤÙ˜ (12,13,14). ∞Ó·ÊÔÚÈο Ì ÙË Lp(a), ÚfiÎÂÈÙ·È ÁÈ· ¤Ó·Ó ·ÓÂÍ¿ÚÙËÙÔ ·Ú¿ÁÔÓÙ· ÎÈÓ‰‡ÓÔ˘ Î·È ÛÙȘ ÂÚÈÛÛfiÙÂÚ˜ ÌÂϤÙ˜ ·˘ÍË̤ӷ Â›‰· Ù˘ Û¯ÂÙ›˙ÔÓÙ·È Ì ÙËÓ ÂÌÊ¿ÓÈÛË ‹ ÙË ÛÔ‚·ÚfiÙËÙ· ÛÙÂÊ·ÓÈ·›·˜ ÓfiÛÔ˘ (8,15). ™ÙË ÌÂϤÙË Ì·˜ ·Ú·ÙËÚ‹ıËΠÛÙ·ÙÈÛÙÈο ÛËÌ·ÓÙÈ΋ ıÂÙÈ΋ Û˘Û¯¤ÙÈÛË ·Ó¿ÌÂÛ· ÛÙËÓ Lp(a) Î·È ÛÙËÓ LDL-C. Œ¯ÂÈ, ¿ÏψÛÙÂ, Ê·Ó› ·fi ÙȘ ÌÂϤÙ˜ ÙˆÓ Maher Î·È Û˘Ó. fiÙÈ ˘„ËÏ¿ Â›‰· Lp(a) ÛÂ Û˘Ó‰˘·ÛÌfi Ì ·˘ÍË̤Ó˜ ÙÈ̤˜ LDL-C ¤¯Ô˘Ó ÙÔ ‰˘ÛÌÂÓ¤ÛÙÂÚÔ ·ÔÙ¤ÏÂÛÌ·. ∏ ¤Î‚·ÛË ·˘Ù‹ ·Ó·ÛÙÚ¤ÊÂÙ·È Ì ÙËÓ ÂÏ¿ÙÙˆÛË Ù˘ LDL-C (12,16). ∏ ÔÈÎÔÁÂÓ‹˜ ˘ÂÚÏÈȉ·ÈÌ›· Â›Ó·È ÌÈ· Û˘¯Ó‹ ‰È·Ù·Ú·¯‹ Ô˘ ··ÓÙ¿Ù·È ÛÙÔ 1% ÙˆÓ ÂÓËÏ›ÎˆÓ Î·È Â˘ı‡ÓÂÙ·È ÂÚ›Ô˘ ÁÈ· ÙÔ 10% ÙˆÓ ÚÒÈÌˆÓ Î·Ú‰È·ÁÁÂÈ·ÎÒÓ Û˘Ì‚·Ì¿ÙˆÓ (13). ™ÙË ÌÂϤÙË Ì·˜ Ê·›ÓÂÙ·È fiÙÈ ÙÔ ıÂÙÈÎfi ÔÈÎÔÁÂÓÂÈ·Îfi ÈÛÙÔÚÈÎfi ˘ÂÚÏÈȉ·ÈÌ›·˜ ‹ ηډȷÁÁÂÈ·ÎÔ‡ ÓÔÛ‹Ì·ÙÔ˜ Û¯ÂÙ›˙ÂÙ·È ÛËÌ·ÓÙÈο Ì ·˘ÍË̤Ó˜ ÙÈ̤˜ TC, LDL-C, ApoB100 Î·È ÂÏ·Ùو̤ӷ Â›‰· HDL-C Î·È ApoAI (14,17). ∆· ·ÔÙÂϤÛÌ·Ù· ÌÂÁ¿ÏˆÓ ÌÂÏÂÙÒÓ, ÛÙȘ Ôԛ˜ ¤¯Ô˘Ó ηٷÁÚ·Ê› ÙÈ̤˜ ¯ÔÏËÛÙÂÚfiÏ˘ ·fi ÙËÓ ·È‰È΋ ËÏÈΛ· ̤¯ÚÈ ÙËÓ ÂÓËÏÈΛˆÛË, ¤¯Ô˘Ó ‰Â›ÍÂÈ fiÙÈ

·È‰È¿ Ì ·˘ÍË̤ӷ Â›‰· ¯ÔÏËÛÙÂÚfiÏ˘ ·ÓÙÈÌÂÙˆ›˙Ô˘Ó Ôχ ÌÂÁ·Ï‡ÙÂÚÔ Î›Ó‰˘ÓÔ Ó· ÂÌÊ·Ó›ÛÔ˘Ó ÛÙÔ Ì¤ÏÏÔÓ Î·Ú‰È·ÁÁÂȷ΋ ÓfiÛÔ Û ۯ¤ÛË Ì ÙÔ ÁÂÓÈÎfi ÏËı˘ÛÌfi (18). ™˘ÌÂÚ·ÛÌ·ÙÈο, Î·È Û‡Ìʈӷ Ì ÙȘ Ô‰ËÁ›Â˜ ÙÔ˘ NCEP, Â›Ó·È ··Ú·›ÙËÙÔ ÔÈ ·È‰›·ÙÚÔÈ Ó· ηٷÁÚ¿ÊÔ˘Ó ÙÔ ÔÈÎÔÁÂÓÂÈ·Îfi ÈÛÙÔÚÈÎfi fiÏˆÓ ÙˆÓ ·È‰ÈÒÓ ˆ˜ ÚÔ˜ Ù· ηډȷÁÁÂȷο ÓÔÛ‹Ì·Ù· Î·È ÙËÓ ˘ÂÚ¯ÔÏËÛÙÂÚÔÏ·ÈÌ›·. ∂›Ó·È, Â›Û˘, Ôχ ÛËÌ·ÓÙÈÎfi Ù· ·È‰È¿ ·ÛıÂÓÒÓ Ì ηډȷÁÁÂȷ΋ ÓfiÛÔ ‹ ˘ÂÚÏÈȉ·ÈÌ›· Ó· ÂϤÁ¯ÔÓÙ·È ˆ˜ ÚÔ˜ ÙÔ ÏÈȉ·ÈÌÈÎfi ÚÔÊ›Ï ·fi Ôχ ÌÈÎÚ‹ ËÏÈΛ·, ÚÔÎÂÈ̤ÓÔ˘ Ó· ·Ó·ÁÓˆÚ›˙ÔÓÙ·È ¤ÁηÈÚ· ÂΛӷ Ô˘ Â›Ó·È ˘„ËÏÔ‡ ÎÈÓ‰‡ÓÔ˘ Î·È Ó· ηıÔ‰ËÁÔ‡ÓÙ·È Î·Ù¿ÏÏËÏ·, Ì ˘ÁÈÂÈÓԉȷÈÙËÙÈΤ˜ Ô‰ËÁ›Â˜, ¿ÛÎËÛË Î·È, ·Ó Â›Ó·È ··Ú·›ÙËÙÔ, Ê·Ú̷΢ÙÈ΋ ·ÁˆÁ‹. ¶·Ú¿ÏÏËÏ·, ÛÙ· ·È‰È¿ Ô˘ ÂÌÊ·Ó›˙Ô˘Ó Î·È ·¯˘Û·ÚΛ· Ú¤ÂÈ Ó· Á›ÓÂÙ·È Ë Û‡ÛÙ·ÛË ÂÚ·ÈÙ¤Úˆ ‰ÈÂÚ‡ÓËÛ˘ Î·È ·ÓÙÈÌÂÙÒÈÛ˘ ÙÔ˘ ÚÔ‚Ï‹Ì·Ùfi˜ ÙÔ˘˜.

µÈ‚ÏÈÔÁÚ·Ê›· 1. McNamara JJ, Molot MA, Stremple JF, Cutting RT. Coronary artery disease in combat casualties in Vietnam.

JAMA 1971;216:1185-1187.

2. Strong JP, Malcom GT, McMahan CA, Tracy RE, Newman WP 3rd, Herderick EE, et al. Prevalence and extent of atherosclerosis in adolescents and young adults: implications for prevention from the Pathobiological Determinants of Atherosclerosis in Youth Study. JAMA 1999;281:727-735.

3. Castelli WP, Garrison RJ, Wilson PW, Abbott RD, Kalousdian S, Kannel WB. Incidence of coronary heart disease and lipoprotein cholesterol levels. The Framingham Study.

JAMA 1986;256:2835-2838.

4. Pocock SJ, Shaper AG, Phillips AN, Walker M, Whitehead TP. High density lipoprotein cholesterol is not a major risk factor for ischaemic heart disease in British men. Br Med J (Clin Res Ed) 1986;292:515-519.

5. Kannel WB, Neaton JD, Wentworth D, Thomas HE, Stamler J, Hulley SB, et al. Overall and coronary heart disease mortality rates in relation to major risk factors in 325,348 men screened for the MRFIT. Multiple Risk Factor Intervention Trial. Am Heart J 1986;112:825-836.

6. National Cholesterol Education Program: Report of the Expert Panel on Blood Cholesterol Levels in Children and Adolescents. Pediatrics 1992;89:525-584.

7. Makedou A, Kourti M, Makedou K, Lazaridou S, Varlamis G. Lipid profile of children with a family history of coronary heart disease or hyperlipidemia: 9-year experience of an outpatient clinic for the prevention of cardiovascular diseases. Angiology 2005;56:391-395.

8. Bistritzer T, Rosenzweig L, Barr J, Mayer S, Lahat E, Faibel H, et al. Lipid profile with paternal history of coronary heart disease before age 40. Arch Dis Child 1995;73:62-65.

9. Relationship of atherosclerosis in young men to serum lipoprotein cholesterol concentrations and smoking. A preliminary report from the Pathobiological Determinants of Atherosclerosis in Youth (PDAY) Research Group.

JAMA 1990;264:3018-3024.

10. ∫lag MJ, Ford DE, Mead LA, He J, Whelton PK, Liang KY, ¶·È‰È·ÙÚÈ΋ 2008;71:215-218

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A. ÛÙÔÁÏÔ˘ Î·È Û˘Ó.

et al. Serum cholesterol in young men and subsequent cardiovascular disease. N Engl J Med 1993;328:313-318.

11. Freedman DS, Srinivasan SR, Cresanta JL, Webber LS, Berenson GS. Cardiovascular risk factors from birth to 7 years of age: the Bogalusa Heart Study. Serum lipids and lipoproteins. Pediatrics 1987;80:789-796.

12. Maher VM, Brown BG, Marcovina SM, Hillger LA, Zhao XQ, Albers JJ. Effects of lowering elevated LDL cholesterol on the cardiovascular risk of lipoprotein(a). JAMA 1995;274:1771-1774.

13. Grundy SM, Chait A, Brunzell JD. Familial combined hyperlipidemia workshop. Arteriosclerosis 1987;7:203-207.

14. Sveger T, Flodmark CE, Nordborg K, Nilsson-Ehle P, Borgfors N. Hereditary dyslipidemias and combined risk factors in children with a family history of premature coronary artery disease. Arch Dis Child 2000;82:292-296.

15. Terres W, Tatsis E, Pfalzer B, Beil FU, Beisiegel U, Hamm CW. Rapid angiographic progress of coronary artery disease in patients with elevated lipoprotein(a). Circulation 1995;91:948-950.

16. Maher VM, Brown BG. Lipoprotein (a) and coronary heart disease. Curr Opin Lipidol 1995;6:229-235.

17. ∏ennermann JB, Herwig J, März W, Asskali F, Böhles HJ. Lipid and lipoprotein profiles in children with familial hypercholesterolaemia: effects of therapy. Eur J Pediatr 1998;157:912-918.

18. Hickman TB, Briefel RR, Carroll MD, Rifkind BM, Cleeman JI, Maurer KR, et al. Distributions and trends of serum lipid levels among United States children and adolescents ages 4-19 years: data from the Third National Health and Nutrition Examination Survey. Prev Med 1998;27:879-890.

™ˆÛÙ¤˜ ··ÓÙ‹ÛÂȘ ÙÔ˘ Quiz ÁÈ· ÙÔ ¿ÚıÚÔ “ªÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›·” 1. º˘ÛÈÔÏÔÁÈο, Ù· Â›‰· Ù˘ ÌÂı·ÈÌÔÛÊ·ÈÚ›Ó˘ ÛÙÔ ·›Ì· ›ӷÈ: ‚. 0-2% Ù˘ ÔÏÈ΋˜ ·ÈÌÔÛÊ·ÈÚ›Ó˘.

2. ∏ Â›ÎÙËÙË ÌÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›· Û˘Ì‚·›ÓÂÈ: Á. ‡ÛÙÂÚ· ·fi ˘ÂÚ‚ÔÏÈ΋ ¤ÎıÂÛË Û ÔÍÂȉˆÙÈÎÔ‡˜ ·Ú¿ÁÔÓÙ˜.

3. ∏ Û˘ÁÁÂÓ‹˜ ÌÔÚÊ‹ Ù˘ ÌÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›·˜: ‚. ÔÊ›ÏÂÙ·È Û ÌÂÙ·ÏÏ¿ÍÂȘ ÛÙÔ ÁÔÓ›‰ÈÔ Ù˘ ΢Ùfi¯ÚˆÌ·-b5-·Ó·ÁˆÁ¿Û˘.

4. ™ÙË ‰È·ÁÓˆÛÙÈ΋ ÚÔÛ¤ÁÁÈÛË ÂÓfi˜ ·ÛıÂÓÔ‡˜ Ì ΢¿ÓˆÛË ·fi ÌÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›·: ‰. Ù· Â›‰· Ù˘ ÌÂı·ÈÌÔÛÊ·ÈÚ›Ó˘ ÛÙÔ ·›Ì· ı¤ÙÔ˘Ó ÙË ‰È¿ÁÓˆÛË.

5. £ÂÚ·¢ÙÈο, ÙÔ ÌÏ ÙÔ˘ ÌÂı˘ÏÂÓ›Ô˘: ‰. Â›Ó·È ÙÔ ·ÓÙ›‰ÔÙÔ ÚÒÙ˘ ÁÚ·ÌÌ‹˜, ˘fi ÚÔ¸Ôı¤ÛÂȘ.

Paediatriki 2008;71:215-218

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219

∞fi„ÂȘ Ì·ıËÙÒÓ ¤ÎÙ˘ Ù¿Í˘ ‰ËÌÔÙÈÎÒÓ Û¯ÔÏ›ˆÓ Î·È ı¤ÛÂȘ ÙˆÓ ‰·ÛÎ¿ÏˆÓ Û¯ÂÙÈο Ì ÙÔ Î¿ÓÈÛÌ· µ. ∞˚‚¿˙˘1, °. ∑·Ú‰·‚¿1, ¢. ∞˚‚¿˙Ë2, ∂. ªÔ˘ÚÏ‹1, Õ. µ·ÛÈÏÂÈ¿‰Ë˜2, ∆. £ˆÌ·˝‰Ë˜2, Œ. ºÔ‡ÓÙ˙ËÏ·2, ∂. °È·Ï·Ì¿1, ¶. ∞ÚÁ˘ÚÔÔ‡ÏÔ˘-¶·Ù¿Î·2 ¶ÂÚ›ÏË„Ë ∂ÈÛ·ÁˆÁ‹: ™ÎÔfi˜ Ù˘ ÌÂϤÙ˘ ‹Ù·Ó Ë ‰ÈÂÚ‡ÓËÛË ÙˆÓ ·fi„ÂˆÓ ÙˆÓ Ì·ıËÙÒÓ, ηıÒ˜ Î·È ÙˆÓ ı¤ÛÂˆÓ ÙˆÓ ‰·ÛÎ¿ÏˆÓ ÙÔ˘˜ Û¯ÂÙÈο Ì ÙÔ Î¿ÓÈÛÌ·. ÀÏÈÎfi Î·È Ì¤ıÔ‰ÔÈ: ¢È·ÓÂÌ‹ıËÎ·Ó ÂȉÈο ÂÚˆÙËÌ·ÙÔÏfiÁÈ· ÛÙÔ˘˜ Ì·ıËÙ¤˜ ¤ÎÙ˘ Ù¿Í˘ Î·È ÙÔ˘˜ ‰·ÛοÏÔ˘˜ 92 ‰ËÌÔÙÈÎÒÓ Û¯ÔÏ›ˆÓ Ù˘ £ÂÛÛ·ÏÔӛ΢. ∂ÎÙÈÌ‹ıËÎ·Ó ÔÈ ··ÓÙ‹ÛÂȘ 2.237 Ì·ıËÙÒÓ (97,3%) Î·È 615 ‰·ÛÎ¿ÏˆÓ (83,6%) Ô˘ Â¤ÛÙÚ„·Ó Ù· ÂÚˆÙËÌ·ÙÔÏfiÁÈ· Ï‹Úˆ˜ Û˘ÌÏËڈ̤ӷ. ∞ÔÙÂϤÛÌ·Ù·: ∆Ô 73,5% ÙˆÓ ·Ù¤ÚˆÓ Î·È ÙÔ 50,7% ÙˆÓ ÌËÙ¤ÚˆÓ ÙˆÓ Ì·ıËÙÒÓ ‹Ù·Ó ηÓÈÛÙ¤˜. ∞ÓÙ›ÛÙÔȯ·, ÔÈ ‰¿ÛηÏÔÈ Î¿ÓÈ˙·Ó Û ÔÛÔÛÙfi 45,2% Î·È ÔÈ ‰·ÛοϘ Û 40,6%. To 97,2 % ÙˆÓ Ì·ıËÙÒÓ ÁÓÒÚÈ˙ ÙȘ ÂÈÙÒÛÂȘ ÙÔ˘ ÂÓÂÚÁËÙÈÎÔ‡ Î·È ÙÔ 95,1 % ÙÔ˘ ·ıËÙÈÎÔ‡ ηÓ›ÛÌ·ÙÔ˜ √È ‰¿ÛηÏÔÈ ÙȘ ·Ô‰¤¯ÔÓÙ·È Û ÔÛÔÛÙ¿ 98,5 Î·È 97,7%, ·ÓÙ›ÛÙÔȯ·. ∆Ô 94,6% ÙˆÓ ‰·ÛÎ¿ÏˆÓ ÁÓÒÚÈ˙·Ó fiÙÈ ·ÔÙÂÏÔ‡Ó ·ÚÓËÙÈÎfi ÚfiÙ˘Ô ÁÈ· ÙÔ˘˜ Ì·ıËÙ¤˜ ÙÔ˘˜. ∞ÚÓËÙÈο ÚfiÙ˘· ÁÈ· ÙÔ˘˜ Ì·ıËÙ¤˜ ‹Ù·Ó ÚÒÙ· ÔÈ ÁÔÓ›˜ ÙÔ˘˜ Î·È ÌÂÙ¿ ÔÈ ‰¿ÛηÏÔÈ, Û ÔÛÔÛÙfi 83,5%. ∆Ô 26,5% ÙˆÓ ÌË Î·ÓÈÛÙÒÓ ‰·ÛÎ¿ÏˆÓ ¿ÏÏ·Í·Ó ÁÚ·ÊÂ›Ô ÁÈ· Ó· ·ÔʇÁÔ˘Ó ÙÔ ·ıËÙÈÎfi οÓÈÛÌ·, ÂÓÒ ÙÔ 13,6% ÂͤÊÚ·Û·Ó ÙËÓ ·ÓÙ›ıÂÛ‹ ÙÔ˘˜ ÛÙÔ˘˜ ηÓÈÛÙ¤˜. ™˘ÌÂÚ¿ÛÌ·Ù·: √È ÁÔÓ›˜ Ì·˙› Ì ÙÔ˘˜ ‰·ÛοÏÔ˘˜ ·ÔÙÂÏÔ‡Ó Ù· ‚·ÛÈο ·ÚÓËÙÈο ÚfiÙ˘·. √È Ì·ıËÙ¤˜, ·Ó Î·È ÌÈÎÚÔ› (11-13 ÂÙÒÓ), ÁÓˆÚ›˙Ô˘Ó ÔÏÏ¿ ÁÈ· ÙÔ Î¿ÓÈÛÌ· Î·È ÙȘ ÂÈÏÔΤ˜ Î·È ıˆÚÔ‡Ó ÙÔ˘˜ È·ÙÚÔ‡˜ ηٷÏÏËÏfiÙÂÚÔ˘˜ ÁÈ· ÂÓË̤ڈÛË.

1 ∞’ ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋ ∞ÚÈÛÙÔÙÂÏ›Ԣ ¶·ÓÂÈÛÙËÌ›Ô˘ £ÂÛÛ·ÏÔӛ΢, IÔÎÚ¿ÙÂÈÔ °ÂÓÈÎfi ¡ÔÛÔÎÔÌÂ›Ô £ÂÛÛ·ÏÔӛ΢ 2 ∂ÏÏËÓÈ΋ ∞ÓÙÈηÓÈÛÙÈ΋ ∂Ù·ÈÚ›·, ¶·Ú¿ÚÙËÌ· £ÂÛÛ·ÏÔӛ΢ AÏÏËÏÔÁÚ·Ê›·: B›ÎÙˆÚ ∞˚‚¿˙˘ aivazis@med.auth.gr ∞’ ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋ ∞ÚÈÛÙÔÙÂÏ›Ԣ ¶·ÓÂÈÛÙËÌ›Ô˘ £ÂÛÛ·ÏÔӛ΢, IÔÎÚ¿ÙÂÈÔ °ÂÓÈÎfi ¡ÔÛÔÎÔÌÂ›Ô £ÂÛÛ·ÏÔӛ΢

§¤ÍÂȘ ÎÏÂȉȿ: ª·ıËÙ¤˜, ‰¿ÛηÏÔÈ, οÓÈÛÌ·.

Schoolchildren’s awareness and teachers’ views about active and passive smoking V. Aivazis1, G. Zardava1, D. Aivazi2, E. Bourli1, A. Vasiliadis2, T. Thomaidis2, E. Fountzila2, E. Gialama1, P. Argyropoulou-Pataka2 Abstract Background: The aim of this study was to investigate the opinions about smoking of primary school pupils (6th grade) and the views of their teachers Methods: Questionnaires were distributed to students and teachers of primary schools in Thessaloniki.

Overall, 2,237 students’ questionnaires (97.2%) and 615 teachers’ questionnaires of were completed and sent back.

Results: Fathers of pupils were smokers in 73.5% of the cases and mothers in 50.7%. Male teachers were smokers in 45.2% and female teachers in 40.6% of cases. Of the pupils, 97.2% were aware of the repercussions of active smoking and 95.1% of passive smoking. Male teachers acknowledge the effects of smoking in a percentage 98.5% and female teachers 97.7%. A high proportion (94.6%) of the teachers are aware that they present a negative model for their students. The schoolchildren’s models are first their parents and second their teachers (83.5%). Of the non-smoking teachers (the passive smokers) 26.5% leave their office where the other teachers smoke, while 13.6% argue with their active- smoker colleagues about the issue.

Conclusions: Parents and teachers constitute basic negative models for schoolchildren. The 6th grade pupils (11-13 years) are aware of the harmful effects of smoking and consider doctors as the most appropriate persons to inform them about the dangers.

1 1st Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Thessaloniki 2 Hellenic Antismoking Society, Thessaloniki Annexe Correspondence: Victor Th. Aivazis aivazis@med.auth.gr 1st Department of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Thessaloniki, Greece

Key words: Primary schoolchildren, teachers, smoking.

Œ·ıÏÔ «¢ÔÍÈ¿‰Ë», ∫ÔÈÓˆÓÈ΋˜ ¶·È‰È·ÙÚÈ΋˜, 45Ô ¶·ÓÂÏÏ‹ÓÈÔ ™˘Ó¤‰ÚÈÔ, 25-27 ª·˝Ô˘ 2007, ÷ÏÎȉÈ΋

¶·È‰È·ÙÚÈ΋ 2008;71:219-223

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·220

220

µ. ∞˚‚¿˙˘ Î·È Û˘Ó.

EÈÛ·ÁˆÁ‹ ∆Ô Î¿ÓÈÛÌ· Û ·ÁÎfiÛÌÈÔ Â›Â‰Ô ¤¯ÂÈ ÚÔÛÏ¿‚ÂÈ ‰È·ÛÙ¿ÛÂȘ ÛÔ‚·Ú‹˜ ÂȉËÌ›·˜ Î·È Ô ÂÈÔÏ·ÛÌfi˜ ÙÔ˘ ÛÙȘ ·Ó·Ù˘ÛÛfiÌÂÓ˜ ¯ÒÚ˜ ÂÌÊ·Ó›˙ÂÈ ·˘Í·ÓfiÌÂÓ˜ Ù¿ÛÂȘ. ÀÔÏÔÁ›˙ÂÙ·È fiÙÈ ÂÚÈÛÛfiÙÂÚÔÈ ·fi 1,1 ‰ÈÛÂηÙÔÌ̇ÚÈÔ ¿ÓıÚˆÔÈ Â›Ó·È Î·ÓÈÛÙ¤˜ Î·È ¿Óˆ ·fi 4 ÂηÙÔÌ̇ÚÈ· ·fi ·˘ÙÔ‡˜ Âı·›ÓÔ˘Ó ÂÙËÛ›ˆ˜ (1). ∞ÎfiÌË, ÚfiÛÊ·Ù· ‰È·ÈÛÙÒıËÎÂ Û˘Ó¯‹˜ ·‡ÍËÛË ÙˆÓ Ó¤ˆÓ Û ËÏÈΛ· ηÓÈÛÙÒÓ Î·È Ë ·‡ÍËÛË ·˘Ù‹ Â›Ó·È È‰È·›ÙÂÚ· ·ÓËÛ˘¯ËÙÈ΋ ÌÂٷ͇ ÙˆÓ ¤ÊË‚ˆÓ ÎÔÚÈÙÛÈÒÓ (2-4). ™‡Ìʈӷ Ì ÙË Eurostat ÛÙËÓ ∂˘ÚÒË, ÙÔ 31% ÙÔ˘ ÂÓ‹ÏÈÎÔ˘ ÏËı˘ÛÌÔ‡ Â›Ó·È Î·ÓÈÛÙ¤˜, ÂÓÒ Ë ¯ÒÚ· Ì·˜ η٤¯ÂÈ ÙËÓ ÚÒÙË ı¤ÛË Ì 44,9% ÙˆÓ ÂÓËÏ›ÎˆÓ Ó· ηÓ›˙Ô˘Ó (58,14% ¿Ó‰Ú˜ Î·È 32,2% Á˘Ó·›Î˜) (5). ∂›Ó·È ÁÓˆÛÙfi fiÙÈ Ô Î·Ófi˜ ÙÔ˘ ÙÛÈÁ¿ÚÔ˘ (ÂÓÂÚÁËÙÈÎÔ‡ ‹ ·ıËÙÈÎÔ‡) ·ÔÙÂÏ› ÛÔ‚·Ú‹ ·ÈÙ›· ‰È·Ù·Ú·¯‹˜ Ù˘ ˘Á›·˜ ÛÙ· ·È‰È¿ Î·È ÙÔ˘˜ ÂÊ‹‚Ô˘˜, ·ÏÏ¿ Î·È ·ÂÈÏ‹˜ Ù˘ ˙ˆ‹˜ ÙˆÓ ÂÓËÏ›ÎˆÓ (6-14). √È ÁÔÓ›˜ ηÓÈÛÙ¤˜ ·ÔÙÂÏÔ‡Ó ÙÔ ‚·ÛÈÎfiÙÂÚÔ ·ÚÓËÙÈÎfi ÚfiÙ˘Ô ÁÈ· Ù· ·È‰È¿, ·ÎÔÏÔ˘ıÔ‡Ó ÔÈ ‰¿ÛηÏÔÈ-ηıËÁËÙ¤˜ Î·È ÔÈ ÁÈ·ÙÚÔ› (2,3,15-19). ¢˘ÛÙ˘¯Ò˜, Ë ÂÓË̤ڈÛË ÙˆÓ Ì·ıËÙÒÓ ÙˆÓ ‰ËÌÔÙÈÎÒÓ Û¯ÔÏ›ˆÓ ÛÙË ¯ÒÚ· Ì·˜ Û¯ÂÙÈο Ì ÙÔ Î¿ÓÈÛÌ· Î·È ÙȘ Ì·ÎÚÔ¯ÚfiÓȘ ÂÈÙÒÛÂȘ ÙÔ˘ ÛÙÔÓ ÂÓÂÚÁËÙÈÎfi (¿ÌÂÛÔ) ‹ ·ıËÙÈÎfi (¤ÌÌÂÛÔ) ηÓÈÛÙ‹ ·Ú·Ì¤ÓÂÈ ·ÓÂ·Ú΋˜. ™ÎÔfi˜ ·˘Ù‹˜ Ù˘ ÂÚÁ·Û›·˜ ‹Ù·Ó: 1) ∏ ‰ÈÂÚ‡ÓËÛË ÙˆÓ ·fi„ÂˆÓ Ì·ıËÙÒÓ Ù˘ ¤ÎÙ˘ Ù¿Í˘ ÙˆÓ ‰ËÌÔÙÈÎÒÓ Û¯ÔÏ›ˆÓ Ô˘ ·ÔÙÂÏÔ‡Ó ÌÈ· ËÏÈΛ· ȉȷ›ÙÂÚ· ¢·›ÛıËÙË.

2) ∏ ‰ÈÂÚ‡ÓËÛË Ù˘ ηÓÈÛÙÈ΋˜ Û˘Ó‹ıÂÈ·˜ ÙˆÓ ÁÔÓ¤ˆÓ ÙˆÓ Ì·ıËÙÒÓ Î·È ÙˆÓ ‰·ÛÎ¿ÏˆÓ ÙÔ˘˜, ·ÏÏ¿ Î·È ÙˆÓ ·fi„ÂˆÓ Î·È ÙˆÓ ·ÓÙȉڿÛÂˆÓ Î·ÓÈÛÙÒÓ Î·È ÌË Î·ÓÈÛÙÒÓ ‰·ÛοψÓ.

3) ∏ ÂÓË̤ڈÛË Ì¤Ûˆ ÙˆÓ ÂÚˆÙËÌ·ÙÔÏÔÁ›ˆÓ ȉȷ›ÙÂÚ· ÚÔ˜ ÙÔ˘˜ Ì·ıËÙ¤˜ ÙˆÓ Û¯ÔÏ›ˆÓ. ÀÏÈÎfi Î·È Ì¤ıÔ‰ÔÈ ¢È·ÓÂÌ‹ıËÎ·Ó 2.300 ÂȉÈο ‰È·ÌÔÚʈ̤ӷ ·ÓÒÓ˘Ì· ÂÚˆÙËÌ·ÙÔÏfiÁÈ· ÛÙÔ˘˜ Ì·ıËÙ¤˜ ¤ÎÙ˘ Ù¿Í˘ 92 ‰ËÌÔÙÈÎÒÓ Û¯ÔÏ›ˆÓ Ù˘ fiψ˜ Ù˘ £ÂÛÛ·ÏÔӛ΢, ‰È·ÊfiÚˆÓ ÂÚÈÔ¯ÒÓ, ¤ÙÛÈ ÒÛÙ ÙÔ ‰Â›ÁÌ· Ó· Â›Ó·È ·ÓÙÈÚÔÛˆ¢ÙÈÎfi Î·È Ù˘¯·›Ô. ¢È·ÊÔÚÂÙÈο ‰È·ÌÔÚʈ̤ÓÔ ·ÓÒÓ˘ÌÔ ÂÚˆÙËÌ·ÙÔÏfiÁÈÔ ‰È·ÓÂÌ‹ıËΠÛÙÔ˘˜ 736 ‰·ÛοÏÔ˘˜ ÙˆÓ 92 Û¯ÔÏ›ˆÓ. ™ÙÔ ÚÒÙÔ Ì¤ÚÔ˜ ÙÔ˘ ÂÚˆÙËÌ·ÙÔÏÔÁ›Ô˘ ÙˆÓ Ì·ıËÙÒÓ ˙ËÙ‹ıËΠӷ ηٷÁÚ·ÊÔ‡Ó ÙÔ Ê‡ÏÔ, Ë ËÏÈΛ· ÙÔ˘ ·È‰ÈÔ‡, Ë ËÏÈΛ· ÙÔ˘ ·Ù¤Ú· Î·È Ù˘ ÌËÙ¤Ú·˜ Î·È ÙÔ Â¿ÁÁÂÏÌ·/ÌfiÚʈÛË ÙÔ˘ ·Ù¤Ú·-Ù˘ ÌËÙ¤Ú·˜. ™ÙÔ ‰Â‡ÙÂÚÔ Ì¤ÚÔ˜ ˙ËÙ‹ıËΠӷ ··ÓÙ‹ÛÔ˘Ó: ·) ·Ó ›¯·Ó οÔÈ· ÂÓË̤ڈÛË ÁÈ· ÙÔ Î¿ÓÈÛÌ· Î·È ·Ó ÙË ıˆÚÔ‡Û·Ó ÈηÓÔÔÈËÙÈ΋, ‚) ÔÈ· ·ÈÙ›· ÈÛÙÂ‡Ô˘Ó fiÙÈ ˆı› ÙÔ˘˜ Ó¤Ô˘˜ ÛÙÔ Î¿ÓÈÛÌ· Î·È ÔÈ· ÔÌ¿‰· ‹ ηÙËÁÔÚ›· Ù˘ ÎÔÈÓˆÓ›·˜ ·ÔÙÂÏ› ·ÚÓËÙÈÎfi ÚfiÙ˘Ô, Á) ·Ó ÁÓˆÚ›˙Ô˘Ó ÙËÓ Â›‰Ú·ÛË ÙÔ˘ ÂÓÂÚÁËÙÈÎÔ‡ ηÓ›ÛÌ·ÙÔ˜ ÛÙÔÓ ¿ÓıÚˆÔ Î·È Û ÔÈ· fiÚÁ·Ó· ‹ Û˘ÛÙ‹Ì·Ù·, ‰) ·Ó ÓÔÌ›˙Ô˘Ó fiÙÈ Î·È ÙÔ ·ıËÙÈÎfi οÓÈÛÌ· ‚Ï¿ÙÂÈ ÙËÓ ˘Á›· ÙˆÓ ·Ú¢ÚÈÛÎÔÌ¤ÓˆÓ Paediatriki 2008;71:219-223

ÛÙÔ ¯ÒÚÔ ÙˆÓ Î·ÓÈÛÙÒÓ, Â) ·Ó ÁÓˆÚ›˙Ô˘Ó ‹ ÈÛÙÂ‡Ô˘Ó fiÙÈ Ë ¤ÁÎ˘Ô˜ ÌËÙ¤Ú· Ô˘ ηÓ›˙ÂÈ ‚Ï¿ÙÂÈ ÙÔÓ Â·˘Ùfi Ù˘ ·ÏÏ¿ Î·È ÙÔ ¤Ì‚Ú˘Ô, ÛÙ) ·Ó ηÓ›˙ÂÈ Ô ·Ù¤Ú·˜ ‹ Î·È Ë ÌËÙ¤Ú· ÙÔ˘˜ ÛÙÔ Û›ÙÈ, ˙) ·Ó ı· ‹ıÂÏ·Ó Î¿ÔÙ ӷ ‚ϤÔ˘Ó Ù· ·È‰È¿ ÙÔ˘˜ Ó· ηÓ›˙Ô˘Ó, Ë) ·Ó ı· ›¯·Ó Ó· ÚÔÙ›ÓÔ˘Ó Î¿ÔÈ· ̤ÙÚ· ηٿ ÙÔ˘ ηÓ›ÛÌ·ÙÔ˜, ı) ·Ó ÈÛÙÂ‡Ô˘Ó fiÙÈ ·˘Ùfi ÙÔ ÂÚˆÙËÌ·ÙÔÏfiÁÈÔ Ô˘ Û˘ÌÏ‹ÚˆÓ·Ó ÙÔ˘˜ ¤Ú·Û οÔÈÔ Ì‹Ó˘Ì· Î·È È) ÔÈÔÈ ÈÛÙÂ‡Ô˘Ó fiÙÈ ÌÔÚÔ‡Ó Ó· ÂÓËÌÂÚÒÛÔ˘Ó Î·Ï‡ÙÂÚ· ÁÈ· ÙȘ ÂÈÙÒÛÂȘ ÙÔ˘ ηÓ›ÛÌ·ÙÔ˜ (‰¿ÛηÏÔÈ, ÁÈ·ÙÚÔ›, ¿ÏÏÔÈ ÂÈÛÙ‹ÌÔÓ˜). ŸÛÔÓ ·ÊÔÚ¿ ÙÔ ÂÚˆÙËÌ·ÙÔÏfiÁÈÔ ÙˆÓ ‰·ÛÎ¿ÏˆÓ ‹Ù·Ó ÎÔÈÓfi ÁÈ· fiÏÔ˘˜ ÛÙÔ ∞ã ̤ÚÔ˜ Î·È ‰È·ÊÔÚÔÔÈÔ‡ÓÙ·Ó ÛÙÔ µã ̤ÚÔ˜. √È Î·ÓÈÛÙ¤˜ Û˘Ó¤¯È˙·Ó ·fi ÙË µ1 ÂÚÒÙËÛË, fiˆ˜ Ê·›ÓÂÙ·È ÛÙÔ ¶·Ú¿ÚÙËÌ· 1, ÂÓÒ ÔÈ ÌË Î·ÓÈÛÙ¤˜ ·¿ÓÙËÛ·Ó ÙȘ ÂÚˆÙ‹ÛÂȘ ÙÔ˘ µ2 ̤ÚÔ˘˜. ™Â fiÏ· Ù· Û¯ÔÏ›· ηٿ ÙË ‰È·ÓÔÌ‹ ÙˆÓ ÂÚˆÙËÌ·ÙÔÏÔÁ›ˆÓ ¤ÁÈÓ ÔÏÈÁfiÏÂÙË ÂÓË̤ڈÛË (ÔÌÈÏ›·) ÂΠ̤ÚÔ˘˜ ÙˆÓ ÂÚ¢ÓËÙÒÓ, Ì ÛÎÔfi Ó· ÂÍËÁ‹ÛÔ˘Ó ÛÙÔ˘˜ Ì·ıËÙ¤˜ È·ÙÚÈÎÔ‡˜ fiÚÔ˘˜ (ÂÓÂÚÁËÙÈÎfi-·ıËÙÈÎfi οÓÈÛÌ· Î.Ï.) Î·È Ó· ··ÓÙ‹ÛÔ˘Ó Û ‚·ÛÈΤ˜ ÂÚˆÙ‹ÛÂȘ ÙÔ˘˜, ‰È¢ÎÔχÓÔÓÙ·˜ ¤ÙÛÈ ÙËÓ Ù¯ÓÈ΋ Ù˘ ·¿ÓÙËÛ˘ ÛÙȘ ÂÚˆÙ‹ÛÂȘ. ™ÙËÓ ·Ó¿Ï˘ÛË ÙˆÓ ··ÓÙ‹ÛÂˆÓ ÂÎÙÈÌ‹ıËÎ·Ó 2.237 ·fi Ù· 2.300 ÂÚˆÙËÌ·ÙÔÏfiÁÈ· ÙˆÓ Ì·ıËÙÒÓ Ô˘ ·ÔÙÂÏÔ‡Ó ÙÔ 97,3% ÙˆÓ ‰È·ÓÂÌËı¤ÓÙˆÓ Î·È 615 ÂÚˆÙËÌ·ÙÔÏfiÁÈ· ‰·ÛÎ¿ÏˆÓ Ô˘ ·ÔÙÂÏÔ‡Ó ÙÔ 83,6% ÙÔ˘ Û˘ÓfiÏÔ˘ ÙˆÓ 736, Ù· ÔÔ›· Â¤ÛÙÚ„·Ó Ï‹Úˆ˜ Û˘ÌÏËڈ̤ӷ. ŸÏ˜ ÔÈ ·Ú¿ÌÂÙÚÔÈ ÂÎÊÚ¿ÛÙËÎ·Ó ˆ˜ ̤ÛË ÙÈÌ‹ Î·È ÛÙ·ıÂÚ‹ ·fiÎÏÈÛË. °È· ÙË ÛÙ·ÙÈÛÙÈ΋ ·Ó¿Ï˘ÛË Î·Ù¿ ˙‡ÁË ¯ÚËÛÈÌÔÔÈ‹ıËÎ·Ó ÔÈ Ì¤ıÔ‰ÔÈ Ã2 Î·È t-test.

∞ÔÙÂϤÛÌ·Ù· ∫·Ù¿ ÙËÓ ·Ó¿Ï˘ÛË ÙˆÓ ··ÓÙ‹ÛÂˆÓ ÙˆÓ ÂÚˆÙËÌ·ÙÔÏÔÁ›ˆÓ ÙˆÓ 2.237 Ì·ıËÙÒÓ (49,3% ·ÁfiÚÈ·) ËÏÈΛ·˜ 11-13 ÂÙÒÓ (11,8 ¤Ù˱1,7), ‚Ú¤ıËÎ·Ó 82 Ô˘ ‰ÂÓ Â›¯·Ó ··ÓÙ‹ÛÂÈ fiÛÔÓ ·ÊÔÚ¿ Ù· ÛÙÔȯ›· ÙÔ˘ ·Ù¤Ú· (ËÏÈΛ·, Â¿ÁÁÂÏÌ· Î·È Î·ÓÈÛÙÈ΋ ‹ fi¯È Û˘Ó‹ıÂÈ·) Î·È 15 fiÛÔÓ ·ÊÔÚ¿ ÙË ÌËÙ¤Ú·. ∆Ô 17% (380 ÔÈÎÔÁ¤ÓÂȘ) ‹Ù·Ó ·ÏÏÔ‰·Ô› ‹ ·ÏÈÓÓÔÛÙÔ‡ÓÙ˜ ŒÏÏËÓ˜. ∞fi Ù· 615 ÂÚˆÙËÌ·ÙÔÏfiÁÈ· ÙˆÓ ‰·ÛοψÓ, Ù· 290 ·Ó‹Î·Ó Û ¿Ó‰Ú˜ Î·È Ù· 325 Û Á˘Ó·›Î˜. ∏ ̤ÛË ËÏÈΛ· ÙˆÓ ·Ù¤ÚˆÓ ÙˆÓ Ì·ıËÙÒÓ ‹Ù·Ó 40,8±8,2 ¤ÙË Î·È ÙˆÓ ÌËÙ¤ÚˆÓ ÙÔ˘˜ 38,4±7,1 ¤ÙË, ÂÓÒ ÛÙÔ˘˜ ¿Ó‰Ú˜ ‰·ÛοÏÔ˘˜ Ë Ì¤ÛË ËÏÈΛ· ‚Ú¤ıËΠ39,5±7,9 ¤ÙË Î·È ÛÙȘ Á˘Ó·›Î˜ 36,8±7,1 ¤ÙË. ∏ ‰È·ÊÔÚ¿ ‰ÂÓ ‹Ù·Ó ÛÙ·ÙÈÛÙÈο ÛËÌ·ÓÙÈ΋ fiÙ·Ó Û˘ÁÎÚ›ıËÎ·Ó Î·Ù¿ ˙‡ÁË (p>0,05). ™ÙÔÓ ¶›Ó·Î· 1 Ê·›ÓÂÙ·È Ô ·ÚÈıÌfi˜ Î·È Ù· ÔÛÔÛÙ¿ ÙˆÓ Î·ÓÈÛÙÒÓ ÁÔÓ¤ˆÓ ÙˆÓ Ì·ıËÙÒÓ Î·È ÙˆÓ ‰·ÛÎ¿ÏˆÓ Î·Ù¿ ʇÏÔ Î·È Û˘ÓÔÏÈο. ¢È·ÈÛÙÒÓÂÙ·È Ôχ ·˘ÍË̤ÓÔ ÔÛÔÛÙfi ηÓÈÛÙÒÓ ·Ù¤ÚˆÓ (73,5%) Û ۇÁÎÚÈÛË Ì ÙȘ ÌËÙ¤Ú˜ (50,7%) (p<0,005). ™Ù·ÙÈÛÙÈο ÛËÌ·ÓÙÈ΋ ‰È·ÊÔÚ¿ ‚Ú¤ıËÎÂ Î·È ÛÙË Û‡ÁÎÚÈÛË ÙÔ˘ Û˘ÓfiÏÔ˘ ÙˆÓ Î·ÓÈÛÙÒÓ ÁÔÓ¤ˆÓ ÙˆÓ Ì·ıËÙÒÓ Î·È ÙˆÓ ‰·ÛÎ¿ÏˆÓ Î·ÓÈÛÙÒÓ 61,95% Î·È 42,75 %, ·ÓÙ›ÛÙÔȯ· (p<0,005). ∆Ô 97,2% Î·È ÙÔ 98,5% ÙˆÓ Ì·ıËÙÒÓ Î·È ÙˆÓ ‰·ÛÎ¿ÏˆÓ ÙÔ˘˜ ‰‹ÏˆÛ·Ó ÙËÓ Â›ÁÓˆÛË Ù˘ ‚Ï·ÙÈ΋˜

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·221

221

∞fi„ÂȘ Ì·ıËÙÒÓ Î·È ı¤ÛÂȘ ‰·ÛÎ¿ÏˆÓ Û¯ÂÙÈο Ì ÙÔ Î¿ÓÈÛÌ·

¶›Ó·Î·˜ 1. ∞ÚÈıÌfi˜ Î·È ÔÛÔÛÙ¿ (%) ηÓÈÛÙÒÓ/ÛÙÚÈÒÓ ·Ù¤ÚˆÓ Î·È ÌËÙ¤ÚˆÓ ÙˆÓ Ì·ıËÙÒÓ, ηıÒ˜ Î·È ‰·ÛÎ¿ÏˆÓ ·Ó‰ÚÒÓ Î·È Á˘Ó·ÈÎÒÓ

°ÔÓ›˜ Ì·ıËÙÒÓ ¶·Ù¤Ú˜ ªËÙ¤Ú˜ ™‡ÓÔÏÔ ¢¿ÛηÏÔÈ ÕÓ‰Ú˜ °˘Ó·›Î˜ ™‡ÓÔÏÔ

∞ÚÈıÌfi˜ ηÓÈÛÙÒÓ

%

1.584/2.155 1.126/2.222 2.710/4.377

73,5% 50,7% 61,9%

131/290 132/325 263/615

45,2% 40,6% 42,7%

Â›‰Ú·Û˘ ÙÔ˘ ÂÓÂÚÁËÙÈÎÔ‡ ηÓ›ÛÌ·ÙÔ˜, ·ÓÙ›ÛÙÔȯ·. ∆· ÔÛÔÛÙ¿ ÁÈ· ÙËÓ Â›‰Ú·ÛË ÙÔ˘ ·ıËÙÈÎÔ‡ ηÓ›ÛÌ·ÙÔ˜ ‹Ù·Ó 95,1 Î·È 97,7%. ¢ÂÓ ‰È·ÈÛÙÒıËÎ·Ó ÛÙ·ÙÈÛÙÈο ÛËÌ·ÓÙÈΤ˜ ‰È·ÊÔÚ¤˜ ÌÂٷ͇ ÙˆÓ ·fi„ÂˆÓ Ì·ıËÙÒÓ Î·È ‰·ÛοψÓ. ™ÙÔÓ ¶›Ó·Î· 2 Ê·›ÓÂÙ·È Ë ‚·ıÌÔÏÔÁÈ΋ (%) Îϛ̷η ÙˆÓ ·ÈÙ›ˆÓ, Ô˘ ηٿ ÙËÓ ¿Ô„Ë ÙˆÓ ÌÈÎÚÒÓ Ì·ıËÙÒÓ ˆıÔ‡Ó ÙÔ˘˜ Ó¤Ô˘˜ ÛÙÔ Î¿ÓÈÛÌ· Ì ÚÒÙË ·ÈÙ›· ÙËÓ Î·Î‹ ·Ú¤· (84,7%) Î·È ‰Â‡ÙÂÚË Ù· ·ÚÓËÙÈο ÚfiÙ˘· (83,5%). ∞ÎÔÏÔ˘ı› Ë Ù¿ÛË ÁÈ· Â›‰ÂÈÍË, ÙÔ ÔÈÎÔÁÂÓÂÈ·Îfi Úfi‚ÏËÌ·, Ô ÌÈÌËÙÈÛÌfi˜ Î·È ÙÂÏÂ˘Ù·›· Ë ÚÔÎÏËÙÈ΋ ‰È·Ê‹ÌÈÛË (32,3%). ™Ù· ·ÚÓËÙÈο ÚfiÙ˘· ÙËÓ ÚÒÙË ı¤ÛË Î·Ù¤¯Ô˘Ó ÔÈ ÁÔÓ›˜, ÙË ‰Â‡ÙÂÚË ÔÈ ‰¿ÛηÏÔÈ-ηıËÁËÙ¤˜, ÙËÓ ÙÚ›ÙË ÔÈ ËıÔÔÈÔ› Î·È Ù¤Ù·ÚÙË ÔÈ ÁÈ·ÙÚÔ›. ™Â ·ÚfiÌÔÈ· ÂÚÒÙËÛË, ÔÈ ‰¿ÛηÏÔÈ ·Ô‰¤¯ÔÓÙ·È Û ÔÛÔÛÙfi 94,6% fiÙÈ ·ÔÙÂÏÔ‡Ó ‚·ÛÈÎfi ·ÚÓËÙÈÎfi ÚfiÙ˘Ô ÁÈ· ÙÔ˘˜ Ì·ıËÙ¤˜ ÙÔ˘˜. ™ÙÔÓ ¶›Ó·Î· 3 ηٷÁÚ¿ÊÔÓÙ·È ÔÈ ·fi„ÂȘ Ì·ıËÙÒÓ Î·È ‰·ÛÎ¿ÏˆÓ Î·Ù¿ ʇÏÔ, Û¯ÂÙÈο Ì ÙËÓ ÚÔÙ›ÌËÛË ÙˆÓ Î·Ù·ÏÏËÏfiÙÂÚˆÓ ÂÈÛÙËÌfiÓˆÓ ÁÈ· ÂÓË̤ڈÛË. ∂‰Ò ÂȂ‚·ÈÒÓÂÙ·È fiÙÈ ÔÈ ÁÈ·ÙÚÔ› ¤¯Ô˘Ó ÙËÓ ÚÒÙË ı¤ÛË Ì ÛÙ·ÙÈÛÙÈο Ôχ ÛËÌ·ÓÙÈ΋ ‰È·ÊÔÚ¿ ·fi ÙÔ˘˜ ÂÎ·È‰Â˘ÙÈÎÔ‡˜ (p<0,005), Ô˘ ¤¯Ô˘Ó ÙË ‰Â‡ÙÂÚË ı¤ÛË ÚÔÙ›ÌËÛ˘. √È Î·ÓÈÛÙ¤˜ ‰¿ÛηÏÔÈ (¿Ó‰Ú˜) ηٷÓÔÔ‡Ó ÙȘ ·ÓÙȉڿÛÂȘ ÙˆÓ ÌË Î·ÓÈÛÙÒÓ Û ÔÛÔÛÙfi 71,6%, ÂÓÒ ÔÈ Á˘Ó·›Î˜ Û 60,7%, ·ԉ¯fiÌÂÓÔÈ ÙËÓ ·‰˘Ó·Ì›· ÙÔ˘˜ Ó· ·ÔʇÁÔ˘Ó ÙÔ Î¿ÓÈÛÌ·. ŸÌˆ˜ Î·È ÔÈ ÌË Î·ÓÈÛÙ¤˜ ‰¿ÛηÏÔÈ Û ÔÛÔÛÙ¿ 66,7% ÔÈ ¿Ó‰Ú˜

¶›Ó·Î·˜ 3. ∞fi„ÂȘ ÙˆÓ Ì·ıËÙÒÓ Î·È ÙˆÓ ‰·ÛÎ¿ÏˆÓ ÙÔ˘˜ ÁÈ· ηٷÏÏËÏfiÙÂÚÔ˘˜ ÂÈÛÙ‹ÌÔÓ˜ ÚÔ˜ ÂÓË̤ڈÛË ÙˆÓ Ó¤ˆÓ ÁÈ· ·ÔÊ˘Á‹ Ù˘ ηÓÈÛÙÈ΋˜ Û˘Ó‹ıÂÈ·˜ °È·ÙÚÔ› ª·ıËÙ¤˜ ∞ÁfiÚÈ· ∫ÔÚ›ÙÛÈ· ¢¿ÛηÏÔÈ ÕÓ‰Ú˜ °˘Ó·›Î˜

∂Î·È‰Â˘ÙÈÎÔ› ÕÏÏÔÈ

p

65,0% 67,4%

33,7% 29,8%

1,3% 2,8%

p<0,01 p<0,01

59,0% 61,7%

31,5% 28,1%

95% 10,2%

p<0,05 p<0,01

Î·È 69,3% ÔÈ Á˘Ó·›Î˜ ηٷÓÔÔ‡Ó ÙÔ˘˜ ηÓÈÛÙ¤˜ Î·È ÙËÓ ·‰˘Ó·Ì›· ÙÔ˘˜. ™ÙÔÓ ¶›Ó·Î· 4, Ê·›ÓÂÙ·È Ô ÙÚfiÔ˜ ·ÓÙ›‰Ú·Û˘ ÙÔ˘ Û˘ÓfiÏÔ˘ ÙˆÓ ÌË Î·ÓÈÛÙÒÓ ‰·ÛÎ¿ÏˆÓ ¤Ó·ÓÙÈ ÙˆÓ Î·ÓÈÛÙÒÓ Û˘Ó·‰¤ÏÊˆÓ ÙÔ˘˜ Î·È Â‰Ò ·Ú·ÙËÚÂ›Ù·È fiÙÈ ÙÔ 60% ÂÚ›Ô˘ ‰¤¯ÂÙ·È ÙÔ ·ıËÙÈÎfi οÓÈÛÌ· ›Ù Ì ·fiÏ˘ÙË Â›Ù Ì ۯÂÙÈ΋ ηٷÓfiËÛË, ÂÓÒ ÙÔ 40% ÂÚ›Ô˘ ·ÓÙȉÚÔ‡Ó Â›Ù ÌÂÙ·ÎÈÓÔ‡ÌÂÓÔÈ Û ¿ÏÏÔ˘˜ ¯ÒÚÔ˘˜ ›Ù ‰È·ÏËÎÙÈ˙fiÌÂÓÔÈ Ì ÙÔ˘˜ ηÓÈÛÙ¤˜. ∆¤ÏÔ˜, ÔÈ Î·ÓÈÛÙ¤˜ ‰¿ÛηÏÔÈ ÂÈ˙ËÙÔ‡Ó ÙËÓ ÙÈ̈ڛ· ÙˆÓ Ì·ıËÙÒÓ Ô˘ ηÓ›˙Ô˘Ó Û ÔÛÔÛÙ¿ (20,6%) ÂÏ·ÊÚÒ˜ ˘„ËÏfiÙÂÚ· ÙˆÓ ÌË Î·ÓÈÛÙÒÓ (19,8%) (p>0,01), ÂÓÒ ÙÔ 70% ÂÚ›Ô˘ ÙˆÓ ÌË Î·ÓÈÛÙÒÓ ¤Ó·ÓÙÈ ÙÔ˘ 65% ÙˆÓ Î·ÓÈÛÙÒÓ ÚÔÙÈÌÔ‡Ó ÙËÓ ·Ï‹ ·Ú·Ù‹ÚËÛË Î·È ÙË Û˘Ì‚Ô˘Ï‹ ÛÙÔ˘˜ ηÓÈÛÙ¤˜ Ì·ıËÙ¤˜ ÙÔ˘˜. ∞fi ÙȘ ··ÓÙ‹ÛÂȘ ÙˆÓ Ì·ıËÙÒÓ ÚԤ΢„ fiÙÈ Û ÔÛÔÛÙfi ÌÂÁ·Ï‡ÙÂÚÔ ·fi 83% Ë ÌfiÚʈÛË Î·È ÙÔ Â¿ÁÁÂÏÌ· ÙˆÓ ÁÔÓÈÒÓ ÙÔ˘˜ ‹Ù·Ó ¯·ÌËÏfiÙÂÚÔ˘ ÂÈ¤‰Ô˘ ·fi ·˘Ùfi ÙˆÓ ‰·ÛοψÓ, ÂÓÒ Ë Â›ÛËÌË ÂÓË̤ڈÛË Ô˘ ›¯·Ó Û¯ÂÙÈο Ì ÙÔ Î¿ÓÈÛÌ· ‹Ù·Ó ·ÓÂ·Ú΋˜.

™˘ÌÂÚ¿ÛÌ·Ù· ∆Ô Î¿ÓÈÛÌ· ÙÛÈÁ¿ÚˆÓ Â›Ó·È ϤÔÓ ·ÁÎfiÛÌÈÔ Úfi‚ÏËÌ· Î·È ÚÔηÏ› ȉȷ›ÙÂÚÔ ÂӉȷʤÚÔÓ, ÏfiÁˆ ÙÔ˘ ÂıÈÛÌÔ‡ Ô˘ ÚÔηÏ› Î·È ÙˆÓ ÂÈÙÒÛÂÒÓ ÙÔ˘ ÛÙËÓ ˘Á›·. ™ÙË ¯ÒÚ· Ì·˜, Û‡Ìʈӷ Ì ٷ ÛÙÔȯ›· Ù˘ Eurostat ÁÈ· ÙÔ 2003, Ù· ÔÛÔÛÙ¿ Â›Ó·È 58,1% ÁÈ· ÙÔ˘˜ ¿Ó‰Ú˜ Î·È 32,2% ÁÈ· ÙȘ Á˘Ó·›Î˜ (5). ™ÙË ÌÂϤÙË Ì·˜, ÔÈ Î·ÓÈÛÙ¤˜ ‚Ú¤ıËÎ·Ó Ó· ¤¯Ô˘Ó ˘„ËÏ¿ ÔÛÔÛÙ¿. √È ‰¿ÛηÏÔÈ Î·Ó›˙Ô˘Ó Û ÔÛÔÛÙ¿ 45,2%

¶›Ó·Î·˜ 2. ∞Èٛ˜ Ô˘ ˆıÔ‡Ó ÙÔ˘˜ Ó¤Ô˘˜ ÛÙÔ Î¿ÓÈÛÌ· Î·È ‚·ÛÈÎfiÙÂÚ˜ ÔÌ¿‰Â˜ (Â·ÁÁ¤ÏÌ·Ù·) ·ÚÓËÙÈÎÒÓ ÚÔÙ‡ˆÓ ηٿ ÙËÓ ¿Ô„Ë ÙˆÓ Ì·ıËÙÒÓ Ì·˜

¶›Ó·Î·˜ 4. ¶Ò˜ ·ÓÙÈÌÂÙˆ›˙Ô˘Ó ÙÔ˘˜ ηÓÈÛÙ¤˜ ÔÈ ÌË Î·ÓÈÛÙ¤˜ ‰¿ÛηÏÔÈ;

1. ¶·Ú¤· Ì ¿ÏÏÔ˘˜ ηÓÈÛÙ¤˜ 2. ∞ÚÓËÙÈο ÚfiÙ˘· 3. ∆¿ÛË ÁÈ· Â›‰ÂÈÍË 4. √ÈÎÔÁÂÓÂÈ·Îfi Úfi‚ÏËÌ· 5. ªÈÌËÙÈÛÌfi˜ 6. ¶ÚÔÎÏËÙÈ΋ ‰È·Ê‹ÌÈÛË

1. ªÂ ·fiÏ˘ÙË Î·Ù·ÓfiËÛË 2. ¢¤¯ÔÓÙ·È ·ıËÙÈο 3. ∞ÏÏ¿˙Ô˘Ó ¯ÒÚÔ ÂÚÁ·Û›·˜ 4. ∑ËÙÔ‡Ó Â˘ÁÂÓÈο ÂÚÈÔÚÈÛÌfi 5. ∞ÓÔ›ÁÔ˘Ó Û˘Ó¯Ҙ ·Ú¿ı˘Ú· 6. ¢È·ÏËÎÙ›˙ÔÓÙ·È Û˘¯Ó¿

84,7% 83,5% 75,9% 64,4% 34,9% 32,3%

11,8% 23,5% 26,5% 9,1% 15,5% 13,6% ¶·È‰È·ÙÚÈ΋ 2008;71:219-223

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µ. ∞˚‚¿˙˘ Î·È Û˘Ó.

ÔÈ ¿Ó‰Ú˜ Î·È 40,6% ÔÈ Á˘Ó·›Î˜, ÂÓÒ ÔÈ ÁÔÓ›˜ ÙˆÓ Ì·ıËÙÒÓ Û ۷ÊÒ˜ ˘„ËÏfiÙÂÚ· ÔÛÔÛÙ¿ 73,5% Î·È 50,7%, ·ÓÙ›ÛÙÔȯ·. ∏ ·˘ÍË̤ÓË ‰È·ÊÔÚ¿ ÛÙÔ˘˜ ÁÔÓ›˜ ÈÛÙ‡ԢÌ fiÙÈ ÔÊ›ÏÂÙ·È ÛÙË ‰È·ÊÔÚ¿ ÓÂ˘Ì·ÙÈÎÔ‡, ·ÏÏ¿ Î·È Â·ÁÁÂÏÌ·ÙÈÎÔ‡, ÂÈ¤‰Ô˘ ÙˆÓ ‰‡Ô ÔÌ¿‰ˆÓ Ô˘ ‚È‚ÏÈÔÁÚ·ÊÈο Â›Ó·È ·Ô‰ÂÎÙ‹, ·ÏÏ¿ Î·È ÙÔ ÁÂÁÔÓfi˜ fiÙÈ ÛÙÔ ‰Â›ÁÌ· ÙˆÓ ÁÔÓ¤ˆÓ ÙˆÓ Ì·ıËÙÒÓ ˘‹Ú¯Â ¤Ó· ÛËÌ·ÓÙÈÎfi ÔÛÔÛÙfi (17%) ·fi ÁÔÓ›˜ ·ÏÏÔ‰·Ô‡˜, ÔÈÎÔÓÔÌÈÎÔ‡˜ ÌÂÙ·Ó¿ÛÙ˜ Î·È ·ÏÈÓÓÔÛÙÔ‡ÓÙ˜ ŒÏÏËÓ˜, Ô˘ ηÓ›˙Ô˘Ó Û ˘„ËÏ¿ ÔÛÔÛÙ¿ (20). √È ÂÈÙÒÛÂȘ ÙfiÛÔ ÙÔ˘ ÂÓÂÚÁËÙÈÎÔ‡ ηÓ›ÛÌ·ÙÔ˜ fiÛÔ Î·È ÙÔ˘ ·ıËÙÈÎÔ‡ ÛÙËÓ ˘Á›· ·È‰ÈÒÓ Î·È ÂÓËÏ›ÎˆÓ Î·È È‰È·›ÙÂÚ· Ë Â›‰Ú·Û‹ ÙÔ˘ ÛÙÔ ·Ó·Ó¢ÛÙÈÎfi, ÙÔ Î·Ú‰ÈÔ·ÁÁÂÈ·Îfi, ÙÔ Á·ÛÙÚÂÓÙÂÚÈÎfi Î·È ÙÔ Ô˘ÚÔÔÈÔÁÂÓÓËÙÈÎfi Û‡ÛÙËÌ· Â›Ó·È ‚È‚ÏÈÔÁÚ·ÊÈο ·Ô‰ÂÎÙ¤˜ (5,8-11,20-23), Î·È ·˘Ù‹ Ë ÁÓÒÛË ¤¯ÂÈ ÂÚ¿ÛÂÈ ÛÙËÓ ÎÔÈÓˆÓ›· ·ÎfiÌË Î·È ÙˆÓ ÌÈÎÚÒÓ ·È‰ÈÒÓ, fiˆ˜ ηٷʷ›ÓÂÙ·È Î·È ·fi ÙȘ ··ÓÙ‹ÛÂȘ ÙfiÛÔ ÙˆÓ ‰·ÛÎ¿ÏˆÓ fiÛÔ Î·È ÙˆÓ Ì·ıËÙÒÓ Ù˘ ÌÂϤÙ˘ Ì·˜. √È ÁÔÓ›˜, ÔÈ ‰¿ÛηÏÔÈ-ηıËÁËÙ¤˜, ÔÈ ËıÔÔÈÔ› Î·È ÔÈ ÁÈ·ÙÚÔ› ‚Ú¤ıËΠfiÙÈ ·ÔÙÂÏÔ‡Ó Ù· ‚·ÛÈÎfiÙÂÚ· ·ÚÓËÙÈο ÚfiÙ˘· ÁÈ· Ù· ·È‰È¿ Ù˘ ÌÂϤÙ˘ Ì·˜ ηÈ, fiˆ˜ Â›Ó·È ‚È‚ÏÈÔÁÚ·ÊÈο ·Ô‰ÂÎÙfi, Ù· ·ÚÓËÙÈο ÚfiÙ˘·, ÔÈ Ê›ÏÔÈ Î·ÓÈÛÙ¤˜, Ë ‰È·Ê‹ÌÈÛË ·fi Ù· Ì·˙Èο ̤۷ ÂÓË̤ڈÛ˘ (ªª∂), Ô ÌÈÌËÙÈÛÌfi˜ Î·È Ë Ù¿ÛË ÁÈ· Â›‰ÂÈÍË ·ÔÙÂÏÔ‡Ó ÙȘ ‚·ÛÈΤ˜ ·Èٛ˜ ¤Ó·Ú͢ ÙÔ˘ ηÓ›ÛÌ·ÙÔ˜ ·Ó¿ÌÂÛ· ÛÙÔ˘˜ Ó¤Ô˘˜ (18,24-26). √È Ì·ıËÙ¤˜ Ì·˜ Û ¤Ó· ÌÂÁ¿ÏÔ ÔÛÔÛÙfi ÂÚ›Ô˘ 70% ‰ÂÓ ·Ô‰¤¯ÔÓÙ·È ÙËÓ Â›‰Ú·ÛË Ù˘ ÙËÏÂfiÚ·Û˘ Î·È ·˘Ù‹ Ë ·Ú·Ù‹ÚËÛË ¤ÁÈÓÂ Î·È Û ÚÔËÁÔ‡ÌÂÓË ¤Ú¢ӷ Û ̷ıËÙ¤˜ Á˘ÌÓ·Û›ˆÓ Î·È Ï˘Î›ˆÓ, ÛÙËÓ ÔÔ›· 85% ‰‹ÏˆÛ·Ó fiÙÈ ‰ÂÓ ÂËÚ¿˙ÔÓÙ·È ·fi Ù· ªª∂ (2), ÂÓÒ Â›Ó·È ‚¤‚·ÈÔ fiÙÈ ¤ÓÙ¯ӷ ‰È·ÊËÌÈ˙fiÌÂÓ˜ Ì¿ÚΘ ÙÛÈÁ¿ÚˆÓ ¤¯Ô˘Ó ÙËÓ 1Ë ı¤ÛË ÛÙËÓ ·ÁÔÚ¿. ŸÛÔÓ ·ÊÔÚ¿ ÙȘ ·fi„ÂȘ Î·È ÙȘ ·ÓÙȉڿÛÂȘ ÙˆÓ ÌË Î·ÓÈÛÙÒÓ ¤Ó·ÓÙÈ ÙˆÓ Î·ÓÈÛÙÒÓ Û˘Ó·‰¤ÏÊˆÓ ÙÔ˘˜ Ê·›ÓÂÙ·È fiÙÈ ÏÈÁfiÙÂÚÔÈ ·fi ÙÔ˘˜ ÌÈÛÔ‡˜ ·ÓÙȉÚÔ‡Ó Î·È ··ÈÙÔ‡Ó Î·ı·Úfi ÂÚÈ‚¿ÏÏÔÓ, ÂÓÒ ÔÈ Î·ÓÈÛÙ¤˜ ‰ÂÓ ·ÔʇÁÔ˘Ó ÙÔ Î¿ÓÈÛÌ· ÛÙ· Û¯ÔÏ›· Û ÌÈ· ÂÔ¯‹ Ô˘ ˘¿Ú¯Ô˘Ó ··ÁÔÚ¢ÙÈΤ˜ ‰È·Ù¿ÍÂȘ ηÓ›ÛÌ·ÙÔ˜ Û ‰ËÌfiÛÈÔ˘˜ ¯ÒÚÔ˘˜ Î·È ÂȉÈο Û ÂÎ·È‰Â˘ÙÈο ȉڇ̷ٷ. ∆· ˘„ËÏ¿ ÔÛÔÛÙ¿ Ì·ıËÙÒÓ Î·È ‰·ÛÎ¿ÏˆÓ Ô˘ ıˆÚÔ‡Ó ÙÔ˘˜ ÁÈ·ÙÚÔ‡˜ ˆ˜ ηٷÏÏËÏfiÙÂÚÔ˘˜ ÁÈ· ÂÓËÌÂÚˆÙÈΤ˜ Â› ÙÔ˘ ı¤Ì·ÙÔ˜ ÔÌÈϛ˜ ÂÓÈÛ¯‡Ô˘Ó ÙËÓ ·Ó¿ÁÎË ÁÈ· ÙË Û˘Ì‚ÔÏ‹ ÙˆÓ ·È‰È¿ÙÚˆÓ ÛÙËÓ ·ÔÙÂÏÂÛÌ·ÙÈ΋ ÂÓË̤ڈÛË ÙˆÓ ÁÔÓ¤ˆÓ Î·È ÙˆÓ ·È‰ÈÒÓ ÁÈ· ÙȘ ‚Ï·‚ÂÚ¤˜ Û˘Ó¤ÂȘ ÙÔ˘ ÂÓÂÚÁËÙÈÎÔ‡ Î·È ·ıËÙÈÎÔ‡ ηÓ›ÛÌ·ÙÔ˜. √È ·È‰›·ÙÚÔÈ, Ô˘ ·›˙Ô˘ÌÂ Î·È ÙÔ ÚfiÏÔ ÙÔ˘ ÔÈÎÔÁÂÓÂÈ·ÎÔ‡ ÁÈ·ÙÚÔ‡ Î·È ÙÔ˘ ÈÔ ˘‡ı˘ÓÔ˘ ÁÈ· ÙËÓ ÚfiÏË„Ë ÙˆÓ ÓÔÛËPaediatriki 2008;71:219-223

Ì¿ÙˆÓ, Â›Ó·È ÒÚ· Ó· ı˘ÌËıԇ̠ÙÔ “ÚÔÏ·Ì‚¿ÓÂÈÓ” ÙÔ˘ “·Ù¤Ú· Ù˘ π·ÙÚÈ΋˜” πÔÎÚ¿ÙË, ·ÏÏ¿ Î·È ÙÔÓ ·ÁÒÓ· ÙÔ˘ ·Â›ÌÓËÛÙÔ˘ ∫·ıËÁËÙ‹ Ù˘ ¶·È‰È·ÙÚÈ΋˜ ™‡ÚÔ˘ ¢ÔÍÈ¿‰Ë, È‰Ú˘Ù‹ Î·È ÚÒÙÔ˘ ÚÔ¤‰ÚÔ˘ Ù˘ ∂ÏÏËÓÈ΋˜ ∞ÓÙÈηÓÈÛÙÈ΋˜ ∂Ù·ÈÚ›·˜, Î·È Ó· Û˘Ó¯›ÛÔ˘Ì ÙÔ ¤ÚÁÔ ÙÔ˘ ÁÈ· ÙËÓ ÚfiÏË„Ë ÙÔ˘ ηÓ›ÛÌ·ÙÔ˜ ·fi ÙÔ˘˜ Ó¤Ô˘˜.

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24. AÓıÚ·ÎfiÔ˘ÏÔ˜ ª, §ÈfiÏÈÔ˜ ∂, ∆Ú¿ÓÙÔ˘ ∫, ∫·Ú·Ù˙¿ ∞, ∆Ú›Áη ª, ¶Ú›ÊÙ˘ ∫. ∆Ô Î¿ÓÈÛÌ· Û ÔÈÎÔÁ¤ÓÂȘ ·È‰ÈÒÓ ÙÚ›Ù˘ Î·È ÙÂÙ¿ÚÙ˘ Ù¿Í˘ ‰ËÌÔÙÈÎÒÓ Û¯ÔÏ›ˆÓ ÛÙËÓ ∞ı‹Ó· Î·È ÛÙËÓ ¶¿ÙÚ·. ¶ÓÂ‡ÌˆÓ 2001, ™˘ÌÏËڈ̷ÙÈÎfi Ù‡¯Ô˜ ÛÂÏ 8.

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26. Zaric D, Perin B. Tobacco prevention lessons and smoking adolescents: contradiction or reality? Eur Respir J 2006; 28:472s.

¶·Ú¿ÚÙËÌ· 1. ∂ÚˆÙËÌ·ÙÔÏfiÁÈÔ ·¢ı˘ÓfiÌÂÓÔ Û ‰·ÛοÏÔ˘˜ Û¯ÂÙÈο Ì ÙÔ Î¿ÓÈÛÌ· ∞ã ª¤ÚÔ˜: º‡ÏÔ: ¿ÚÚÂÓ… ı‹Ï˘… ∏ÏÈΛ·... ∂›ÛÙ ηÓÈÛÙ‹˜ ( >5 ÙÛÈÁ¿Ú· ËÌÂÚËÛ›ˆ˜) ¡∞π;… √Ãπ;... (∞Ó ¡∞π Û˘Ó¤¯ÈÛ ÙȘ ··ÓÙ‹ÛÂȘ ÛÙȘ ÂÚˆÙ‹ÛÂȘ µ1). (∞Ó √Ãπ ·¿ÓÙËÛ ÛÙȘ ÂÚˆÙ‹ÛÂȘ µ2). µ1: ∂ÚˆÙ‹ÛÂȘ ÚÔ˜ ηÓÈÛÙ¤˜ ‰·ÛοÏÔ˘˜ 1. ∞fi ÔÈ· ËÏÈΛ· ¿Ú¯ÈÛ˜ Ó· ηÓ›˙ÂȘ;..

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3. ¶fiÛ· ÙÛÈÁ¿Ú· ËÌÂÚËÛ›ˆ˜; 4. ∫·Ó›˙ÂȘ Î·È ÛÙÔ Û¯ÔÏÂ›Ô (ÁÚ·Ê›Ô); 5. £¤ÏÂȘ ‹ ÂȉÈÒÎÂȘ Ó· ÙÔ ÛÙ·Ì·Ù‹ÛÂȘ; 6. °ÓˆÚ›˙ÂȘ fiÙÈ ˘¿Ú¯Ô˘Ó ÂȉÈο È·ÙÚ›· ‰È·ÎÔ‹˜ ÙÔ˘ ηÓ›ÛÌ·ÙÔ˜; 7. °ÓˆÚ›˙ÂȘ fiÙÈ ˘¿Ú¯Ô˘Ó Ê¿Ú̷η Ì ٷ ÔÔ›· ÂÙ˘¯·›ÓÂȘ ÙËÓ ·ÂÍ¿ÚÙËÛË (Ì ÂȉÈÎfi ÚfiÁÚ·ÌÌ·); 8. °ÓˆÚ›˙ÂȘ fiÙÈ ·ÔÙÂÏ›˜ ·ÚÓËÙÈÎfi ÚfiÙ˘Ô ÙfiÛÔ ÛÙ· ·È‰È¿ ÛÔ˘ ÛÙÔ Û›ÙÈ fiÛÔ Î·È ÛÙÔ˘˜ Ì·ıËÙ¤˜ ÙÔ˘ Û¯ÔÏ›Ԣ; 9. °ÓˆÚ›˙ÂȘ fiÙÈ Ô Î·Ófi˜ ÙÛÈÁ¿ÚÔ˘ ‚Ï¿ÙÂÈ ÛÔ‚·Ú¿ ‰È¿ÊÔÚ· fiÚÁ·Ó· Î·È Û˘ÛÙ‹Ì·Ù· (ηډȿ - ·ÁÁ›· - Ó‡ÌÔÓ˜ - Ï¿Ú˘ÁÁ· - Á·ÛÙÚÂÓÙÂÚÈÎfi Û‡ÛÙËÌ· - Ì·ÛÙÔ‡˜ - ‰¤ÚÌ· - Ô˘ÚÔÔÈÔÁÂÓÓËÙÈÎfi Û‡ÛÙËÌ·); 10. °ÓˆÚ›˙ÂȘ fiÙÈ ‚Ï¿ÙÂȘ ·Ú¿ÏÏËÏ· fiÛÔ˘˜ ‰ÂÓ Î·Ó›˙Ô˘Ó, ·ÏÏ¿ Â›Ó·È ˘Ô¯Úˆ̤ÓÔÈ Ó· ˙Ô˘Ó Ì·˙› ÛÔ˘ (Û‡˙˘ÁÔ˜ - ·È‰È¿ Û˘Ó·‰¤ÏÊÔ˘˜); 11. ¶ÈÛÙ‡ÂȘ fiÙÈ ÔÈ ÌË Î·ÓÈÛÙ¤˜ Û˘Ó¿‰ÂÏÊÔ› ÛÔ˘ ·ÓÙȉÚÔ‡Ó Ê˘ÛÈÔÏÔÁÈο ‹ ˘ÂÚ‚¿ÏÏÔ˘Ó Î·È ·Ú·ÏÔÁ›˙ÔÓÙ·È fiÙ·Ó Î·Ó›˙ÂȘ ÌÚÔÛÙ¿ ÙÔ˘˜; 12. ¶ÈÛÙ‡ÂȘ fiÙÈ ¤¯Ô˘Ó ‰›ÎÈÔ ÔÈ ÌË Î·ÓÈÛÙ¤˜ Û˘Ó¿‰ÂÏÊÔ› ÛÔ˘ Ô˘ ·ÓÙȉÚÔ‡Ó ‹ Î·È ‰È·ÏËÎÙ›˙ÔÓÙ·È Ì ÙÔ˘˜ ηÓÈÛÙ¤˜; 13. °ÓˆÚ›˙ÂȘ fiÙÈ ˘¿Ú¯ÂÈ Û¯ÂÙÈ΋ ··ÁÔÚ¢ÙÈ΋ ÓÔÌÔıÂÛ›· ÁÈ· ÙÔ Î¿ÓÈÛÌ· ÛÙÔ˘˜ ¯ÒÚÔ˘˜ ÂÚÁ·Û›·˜; 14. ¶ÔÈ· Â›Ó·È Ë ·ÓÙ›‰Ú·Û‹ ÛÔ˘ ·Ó ‰ÂȘ οÔÈÔ (οÔÈÔ˘˜) Ì·ıËÙ‹ Ó· ηÓ›˙ÂÈ; 15. ¶ÔÈÔÈ ÈÛÙ‡ÂȘ fiÙÈ Â›Ó·È Î·Ù·ÏÏËÏfiÙÂÚÔÈ ÁÈ· ÂÓËÌÂÚˆÙÈΤ˜ ÔÌÈϛ˜ ÛÙ· Û¯ÔÏ›· (‰¿ÛηÏÔÈ - ÁÈ·ÙÚÔ› - ‰ËÌÔÛÈÔÁÚ¿ÊÔÈ ¿ÏÏÔÈ ÂÈÛÙ‹ÌÔÓ˜) Û¯ÂÙÈο Ì ÙÔ Î¿ÓÈÛÌ·; µ2: ∂ÚˆÙ‹ÛÂȘ ÚÔ˜ ÌË Î·ÓÈÛÙ¤˜ ‰·ÛοÏÔ˘˜ 1. °ÓˆÚ›˙ÂȘ fiÙÈ ÙÔ Î¿ÓÈÛÌ· ‚Ï¿ÙÂÈ ÛÔ‚·Ú¿ ÙËÓ ˘Á›· ÙˆÓ Î·ÓÈÛÙÒÓ; 2. °ÓˆÚ›˙ÂȘ fiÙÈ ÙÔ ·ıËÙÈÎfi οÓÈÛÌ· ÂËÚ¿˙ÂÈ ÙËÓ ˘Á›· ÙÔ˘ οı ·Ú¢ÚÈÛÎfiÌÂÓÔ˘ ÛÙÔ ¯ÒÚÔ ÙÔ˘ ηÓÈÛÙ‹ ·È‰ÈÔ‡ ‹ ÂÓ‹ÏÈη; 3. °ÓˆÚ›˙ÂȘ fiÙÈ ·Ó‹ÎÂȘ ÛÙÔ˘˜ ·ıËÙÈÎÔ‡˜ ηÓÈÛÙ¤˜ ÛÙÔ ¯ÒÚÔ ÂÚÁ·Û›·˜ ÛÔ˘ (Û¯ÔÏ›Ô); 4. °ÓˆÚ›˙ÂȘ fiÙÈ ˘¿Ú¯Ô˘Ó ··ÁÔÚ¢ÙÈΤ˜ ‰È·Ù¿ÍÂȘ ÁÈ· ÙÔ Î¿ÓÈÛÌ· ÛÙÔ ¯ÒÚÔ ÂÚÁ·Û›·˜; 5. ¶ÈÛÙ‡ÂȘ fiÙÈ ¤¯Ô˘Ó ‰›ÎÈÔ Î·È ÔÈ Î·ÓÈÛÙ¤˜ Û˘Ó¿‰ÂÏÊÔ› ÛÔ˘; 6. ¶ÔÈ· Â›Ó·È Ë ÛÙ¿ÛË ÛÔ˘ ¤Ó·ÓÙÈ ÙˆÓ Î·ÓÈÛÙÒÓ Û˘Ó·‰¤ÏÊˆÓ ÛÔ˘ (‰¤¯ÂÛ·È ·ıËÙÈο ÙÔ Î¿ÓÈÛÌ· - ·ÏÏ¿˙ÂȘ ¯ÒÚÔ ·Ú·ÌÔÓ‹˜ - ‰È·ÏËÎÙ›˙ÂÛ·È); 7. ¶ÔÈ· ı· Â›Ó·È Ë ·ÓÙ›‰Ú·Û‹ ÛÔ˘ ·Ó ‰ÂȘ οÔÈÔ Ì·ıËÙ‹ Ó· ηÓ›˙ÂÈ; 8. ¶ÔÈÔÈ ÈÛÙ‡ÂȘ fiÙÈ Â›Ó·È ÔÈ Î·Ù·ÏÏËÏfiÙÂÚÔÈ ÁÈ· ÂÓËÌÂÚˆÙÈΤ˜ ÔÌÈϛ˜ ÛÙ· Û¯ÔÏ›· (‰¿ÛηÏÔÈ - ÁÈ·ÙÚÔ› - ‰ËÌÔÛÈÔÁÚ¿ÊÔÈ ¿ÏÏÔÈ ÂÈÛÙ‹ÌÔÓ˜) Û¯ÂÙÈο Ì ÙÔ Î¿ÓÈÛÌ·; ¶·È‰È·ÙÚÈ΋ 2008;71:219-223

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ORIGINAL ARTICLE

ªÂϤÙË ·È‰ÈÒÓ Ì ۇӉÚÔÌÔ Bardet-Biedl ÛÙÔÓ ÂÏÏËÓÈÎfi ÏËı˘ÛÌfi ∂ÚÁ·ÛÙ‹ÚÈÔ π·ÙÚÈ΋˜ °ÂÓÂÙÈ΋˜ ¶·ÓÂÈÛÙËÌ›Ô˘ ∞ıËÓÒÓ, ÈڤÌÂÈÔ ∂Ú¢ÓËÙÈÎfi ∂ÚÁ·ÛÙ‹ÚÈÔ, ¡ÔÛÔÎÔÌÂ›Ô ¶·›‰ˆÓ “∞Á›· ™ÔÊ›·”, ∞ı‹Ó· AÏÏËÏÔÁÚ·Ê›·: ™Ù·˘ÚԇϷ æÒÓË psonistavroula@gmail.com ∂ÚÁ·ÛÙ‹ÚÈÔ π·ÙÚÈ΋˜ °ÂÓÂÙÈ΋˜ ¶·ÓÂÈÛÙËÌ›Ô˘ ∞ıËÓÒÓ, ÈڤÌÂÈÔ ∂Ú¢ÓËÙÈÎfi ∂ÚÁ·ÛÙ‹ÚÈÔ, ¡ÔÛÔÎÔÌÂ›Ô ¶·›‰ˆÓ “∞Á›· ™ÔÊ›·”, £Ë‚ÒÓ Î·È §Â‚·‰Â›·˜, ∆.∫. 115 27, ∞ı‹Ó·

™. æÒÓË, °. §Â‚ÂÓÙfiÔ˘ÏÔ˜, ™. ∫›ÙÛÈÔ˘-∆˙¤ÏË, ∂. ∫·Ó·‚¿Î˘, Œ. ºÚ˘Û›Ú· ¶ÂÚ›ÏË„Ë ∂ÈÛ·ÁˆÁ‹: ∆Ô Û‡Ó‰ÚÔÌÔ Bardet-Biedl (BBS) Â›Ó·È ·˘ÙÔÛˆÌÈ΋ ˘ÔÏÂÈfiÌÂÓË ÓfiÛÔ˜ Ô˘ ¯·Ú·ÎÙËÚ›˙ÂÙ·È ·fi 1) ÎÔÈÏȷ΋ ·¯˘Û·ÚΛ·, 2) „˘¯ÔÎÈÓËÙÈ΋ ηı˘ÛÙ¤ÚËÛË, 3) ‰˘ÛÌÔÚÊÈο ¿ÎÚ·, 4) ‰˘ÛÙÚÔÊ›· ·ÌÊÈ‚ÏËÛÙÚÔÂȉԇ˜ ‹ ÌÂÏ·Á¯ÚˆÛÙÈ΋ ·ÌÊÈ‚ÏËÛÙÚÔÂȉÔ¿ıÂÈ·, 5) ˘ÔÁÔÓ·‰ÈÛÌfi Î·È 6) ÓÂÊÚÈΤ˜ ‰ÔÌÈΤ˜ ‹ ÏÂÈÙÔ˘ÚÁÈΤ˜ ·ÓˆÌ·Ï›Â˜. ∞·ÈÙÔ‡ÓÙ·È ÙÔ˘Ï¿¯ÈÛÙÔÓ 4 ·fi Ù· 6 ·Ú·¿Óˆ ÎÚÈÙ‹ÚÈ· ÁÈ· ÙË ‰È¿ÁÓˆÛË. ™ÎÔfi˜ Ù˘ ÌÂϤÙ˘ Â›Ó·È Ë ·ÚÔ˘Û›·ÛË ÙÔ˘ BBS ˆ˜ ÂÓfi˜ Û¿ÓÈÔ˘ ÁÂÓÂÙÈÎÔ‡ ·ÈÙ›Ô˘ ·¯˘Û·ÚΛ·˜ Î·È Ë ·Ó¿‰ÂÈÍË ÙˆÓ Î‡ÚÈˆÓ ÎÏÈÓÈÎÒÓ ¯·Ú·ÎÙËÚÈÛÙÈÎÒÓ ÙÔ˘. ÀÏÈÎfi Î·È Ì¤ıÔ‰ÔÈ: ∆· 11 ·È‰È¿ Ù˘ ÛÂÈÚ¿˜ Ì·˜ -Ì ‚¤‚·ÈË ‹ Èı·Ó‹ ‰È¿ÁÓˆÛË BBS- ÂÍÂÙ¿ÛıËÎ·Ó Î·È Â·ÓÂÎÙÈÌ‹ıËÎ·Ó Ì ‚¿ÛË ÎÏÈÓÈο ÎÚÈÙ‹ÚÈ·. ∫·Ó¤Ó· ·fi Ù· ·È‰È¿ ‰ÂÓ ˘Ô‚Ï‹ıËΠ۠ÁÂÓÂÙÈ΋ ÌÔÚȷ΋ ·Ó¿Ï˘ÛË ÂÍ·ÈÙ›·˜ Ù˘ ÌÂÁ¿Ï˘ ÁÂÓÂÙÈ΋˜ ÂÙÂÚÔÁ¤ÓÂÈ·˜ Ù˘ ÓfiÛÔ˘ (12 ÁÂÓÂÙÈÎÔ› ÙfiÔÈ). ∏ ̤ÛË ËÏÈΛ· ‹Ù·Ó 5 ¯ÚfiÓÈ·, Î˘Ì·ÈÓfiÌÂÓË ·fi 2 Ì‹Ó˜ ¤ˆ˜ 16 ¯ÚfiÓÈ·. ∂ÓÓ¤· ·ÛıÂÓ›˜ ‹Ù·Ó ·ÁfiÚÈ· Î·È ‰‡Ô ‹Ù·Ó ÎÔÚ›ÙÛÈ·. √ ηڢfiÙ˘Ô˜ Û fiϘ ÙÈ· ÂÚÈÙÒÛÂȘ ‹Ù·Ó Ê˘ÛÈÔÏÔÁÈÎfi˜. ⁄ÛÙÂÚ· ·fi ÌÔÚȷ΋ ·Ó¿Ï˘ÛË DNA, ·ÔÎÏ›ÛıËΠ·fi ÙË ‰È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË Î·È ÙÔ Û‡Ó‰ÚÔÌÔ Prader-Willi. ŒÓ· ·ÁfiÚÈ ·‚›ˆÛ ÛÙË ÓÂÔÁÓÈ΋ ËÏÈΛ· ÏfiÁˆ ÛÔ‚·Ú‹˜ Û˘ÁÁÂÓÔ‡˜ ηډÈÔ¿ıÂÈ·˜, ÔfiÙ ‰ÂÓ ÔÏÔÎÏËÚÒıËÎ·Ó ÔÈ ÂÚÁ·ÛÙËÚȷΤ˜ ·Ó·Ï‡ÛÂȘ. ∞ÔÙÂϤÛÌ·Ù·: ∫·Ù¿ ÙËÓ ÂͤٷÛË, 9/11 ·ÛıÂÓ›˜ ›¯·Ó ÎÔÚÌÈ΋ ·¯˘Û·ÚΛ· ÚÒÈÌ˘ ¤Ó·Ú͢, 5/11 ÌÂÏ·Á¯ÚˆÛÙÈ΋ ·ÌÊÈ‚ÏËÛÙÚÔÂȉÔ¿ıÂÈ·, 8/11 Â͈-·ÍÔÓÈ΋ ÔÏ˘‰·ÎÙ˘Ï›·, 1/11 ÓÂÊÚÔ¿ıÂÈ·, 6/9 ·ÁfiÚÈ· ›¯·Ó ˘ÔÁÔÓ·‰ÈÛÌfi (ÌÈÎÚfi ¤Ô˜, ÎÚ˘„ÔÚ¯›·) Î·È 7/11 „˘¯ÔÎÈÓËÙÈ΋ ηı˘ÛÙ¤ÚËÛË. ™˘ÌÂÚ¿ÛÌ·Ù·: ∏ ‰È¿ÁÓˆÛË ·Ú·Ì¤ÓÂÈ ÎÏÈÓÈ΋ ÏfiÁˆ ‰˘ÛÎÔÏÈÒÓ ÛÙË ÌÔÚȷ΋ ·Ó¿Ï˘ÛË. ∏ ÛˆÛÙ‹ ‰È¿ÁÓˆÛË Â›Ó·È ¯Ú‹ÛÈÌË ÁÈ· ÙËÓ ·Ú·ÎÔÏÔ‡ıËÛË ÙˆÓ ·ÛıÂÓÒÓ, ÙËÓ ·ÓÙÈÌÂÙÒÈÛË ÙˆÓ ÂÈÏÔÎÒÓ Î·È ÙË ÁÂÓÂÙÈ΋ Û˘Ì‚Ô˘Ï¢ÙÈ΋ ÙˆÓ ÔÈÎÔÁÂÓÂÈÒÓ.

§¤ÍÂȘ ÎÏÂȉȿ: ™‡Ó‰ÚÔÌÔ Bardet-Biedl, Û˘Ó‰ÚÔÌÈ΋ ·¯˘Û·ÚΛ·, ÎÏÈÓÈο ÎÚÈÙ‹ÚÈ·.

Study of children with Bardet-Biedl syndrome in the Greek population Department of Medical Genetics, “Aghia Sofia” Children’s Hospital, University of Athens, Athens, Greece Correspondence: Stavroula Psoni psonistavroula@gmail.com Department of Medical Genetics, “Aghia Sofia” Children’s Hospital, University of Athens, Thivon and Levadias, 115 27, Athens, Greece

S. Psoni, G. Leventopoulos, S. Kitsiou-Tzeli, E. Kanavakis, H. Fryssira Abstract Background: Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by 1) abdominal obesity, 2) mental retardation, 3) dysmorphic extremities, 4) retinal dystrophy or pigmentary retinopathy, 5) hypogonadism or hypogenitalism, and 6) renal structural abnormalities or functional impairment. The presence of at least 4 of the above 6 criteria is required for diagnosis. The purpose of this study is to present a series of cases of BBS, which is a rare cause of infantile obesity among children with genetic disorder - and stress the cardinal clinical features.

Methods: Eleven children with definite or possible BBS were reevaluated and diagnosis was established on clinical criteria. Genetic molecular testing was not used because of the genetic heterogeneity of the disorder (12 BBS loci). The median age was 5 years, ranging from two months to 16 years. Nine were male and two female. One died as a neonate of severe congenital cardiopathy and therefore laboratory tests were not completed. Karyotype analysis was normal in all the other cases and Prader-Willi syndrome was excluded by DNA analysis.

Results: At the time of assessment, 9/11 patients had truncal obesity with early onset, 5/11 retinopathy pigmentosa, 8/11 post-axial polydactyly, 1/11 nephropathy, 6/9 hypogenitalism (small penis, cryptorchidism) and 7/11 mental retardation.

Conclusions: The diagnosis of BBS continues to be clinically based due to its genetic heterogenicity. Correct diagnosis is useful for monitoring the patient, e assessment of complications and genetic counselling of the families.

Key words: Bardet-Biedl syndrome, syndromic obesity, clinical features.

Paediatriki 2008;71:224-230

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™˘ÓÙÔÌÔÁڷʛ˜ µµS SNPs IFT PCP ∂¡À ∫¡™ ∆PR domains

Bardet-Biedl syndrome Single Nucleotide Polymorphisms Intraflagellar Transport Planar Cell Polarity ∂ÁÎÂÊ·ÏÔÓˆÙÈ·›Ô ÀÁÚfi ∫ÂÓÙÚÈÎfi ¡Â˘ÚÈÎfi ™‡ÛÙËÌ· Tetratricopeptide repeat domains

∂ÈÛ·ÁˆÁ‹ ∆Ô Û‡Ó‰ÚÔÌÔ Bardet-Biedl (BBS) (OMIM: 209900) Â›Ó·È ÌÈ· ÂÙÂÚÔÁÂÓ‹˜ ÁÂÓÂÙÈ΋ ÓfiÛÔ˜, Ë ÔÔ›· ¯·Ú·ÎÙËÚ›˙ÂÙ·È ·fi ¢ڇ Ê¿ÛÌ· ÛÔ‚·ÚÒÓ ÎÏÈÓÈÎÒÓ ‰È·Ù·Ú·¯ÒÓ, Ì ·ÚÈÔ Û‡Ìو̷ ÙËÓ ·¯˘Û·ÚΛ· ‹‰Ë ·fi ÙËÓ ·È‰È΋ ËÏÈΛ·. ™Ù· ÚˆÙ‡ÔÓÙ· ÎÏÈÓÈο ‰È·ÁÓˆÛÙÈο ÎÚÈÙ‹ÚÈ· Û˘ÌÂÚÈÏ·Ì‚¿ÓÔÓÙ·È Ë ·ÌÊÈ‚ÏËÛÙÚÔÂȉÔ¿ıÂÈ· ÏfiÁˆ ‰˘ÛÙÚÔÊ›·˜ ÙˆÓ Ú·‚‰›ˆÓ Î·È ÙˆÓ ÎˆÓ›ˆÓ, ÔÈ ÓÂÊÚÈΤ˜ ·ÓˆÌ·Ï›Â˜, Ë ÔÏ˘‰·ÎÙ˘Ï›·, Ô ·Ó‰ÚÈÎfi˜ ˘ÔÁÔÓ·‰ÈÛÌfi˜ Î·È ÔÈ Ì·ıËÛȷΤ˜ ‰˘ÛÎÔϛ˜. ÕÏÏ· ‰Â˘ÙÂÚ‡ÔÓÙ· Â˘Ú‹Ì·Ù· Ì ÔÈΛÏË Û˘¯ÓfiÙËÙ· ·ÔÙÂÏÔ‡Ó Ô Û·Î¯·Ú҉˘ ‰È·‚‹Ù˘, Ë Ë·ÙÈ΋ ›ÓˆÛË, ÔÈ ‰È·Ù·Ú·¯¤˜ Ù˘ ·Ó··Ú·ÁˆÁ‹˜, ÔÈ ÂÓ‰ÔÎÚÈÓÔÏÔÁÈΤ˜ ‰È·Ù·Ú·¯¤˜, ÙÔ ÎÔÓÙfi ·Ó¿ÛÙËÌ·, Ë ·Ó·Ù˘Íȷ΋ ηı˘ÛÙ¤ÚËÛË Î·È Ù· ÚÔ‚Ï‹Ì·Ù· Û˘ÌÂÚÈÊÔÚ¿˜. ∏ Ï‹Ú˘ ·Ó¿Ù˘ÍË ÙˆÓ ÚˆÙ¢fiÓÙˆÓ Î·È ‰Â˘ÙÂÚ¢fiÓÙˆÓ ÎÏÈÓÈÎÒÓ ÎÚÈÙËÚ›ˆÓ ÙÔ˘ BBS ·Ó·Ê¤ÚÂÙ·È ÛÙÔÓ ¶›Ó·Î· 1 (1). ∆Ô BBS ÌÂÏÂÙ‹ıËΠÁÈ· ÚÒÙË ÊÔÚ¿ ·fi ÙÔ˘˜ Lawrence Î·È Moon ÙÔ 1866 Û ٤ÛÛÂÚ· ·‰¤ÏÊÈ· Ì ·¯˘Û·ÚΛ·, ·ÌÊÈ‚ÏËÛÙÚÔÂȉÈ΋ ÂÎʇÏÈÛË Î·È ÓÔËÙÈ΋ ˘ÛÙ¤ÚËÛË (2). √È Bardet Î·È Biedl, 50 ¯ÚfiÓÈ· ·ÚÁfiÙÂÚ·, ÂÚȤÁÚ·„·Ó ÂÚÈÙÒÛÂȘ Ô˘ ·ÚÔ˘Û›·˙·Ó Î·È ÔÏ˘‰·ÎÙ˘Ï›· (1,2). ™‹ÌÂÚ· ¤¯ÂÈ ÙÂÎÌËÚȈı› fiÙÈ ÚfiÎÂÈÙ·È ÁÈ· ‰‡Ô ‰È·ÊÔÚÂÙÈΤ˜, ·ÏÏ¿ ·ÏÏËÏfiÌÔÚʘ ‰È·Ù·Ú·¯¤˜ (1). ∆Ô BBS ··ÓÙ¿Ù·È Û fiÏÔ ÙÔÓ ÎfiÛÌÔ, Ì ‰È·ÊÔÚÂÙÈ΋ fï˜ Û˘¯ÓfiÙËÙ·. ∆· ÔÛÔÛÙ¿ Â›ÙˆÛ˘ ÛÙÔ ‰˘ÙÈÎfi ÎfiÛÌÔ (∂˘ÚÒË, µ. ∞ÌÂÚÈ΋) Î˘Ì·›ÓÔÓÙ·È ·fi 1:140.000 Û 1:160.000 ÁÂÓÓ‹ÛÂȘ ÂÙËÛ›ˆ˜ (3), ÂÓÒ Û ÔÚÈṲ̂ÓÔ˘˜ ÎÏÂÈÛÙÔ‡˜ ÏËı˘ÛÌÔ‡˜ (‚‰Ԣ˝ÓÔÈ ÙÔ˘ ∫Ô˘‚¤ÈÙ, οÙÔÈÎÔÈ Newfoundland) Ë Û˘¯ÓfiÙËÙ· ·Ó¤Ú¯ÂÙ·È Û 1:13.500 Î·È 1:17.500 ÁÂÓÓ‹ÛÂȘ ÂÙËÛ›ˆ˜, ·ÓÙ›ÛÙÔȯ·, ˘Ô‰ËÏÒÓÔÓÙ·˜ fiÙÈ Ë ‰È·ÛÔÚ¿ Ù˘ ÓfiÛÔ˘ ÔÊ›ÏÂÙ·È ÛÙËÓ ·ÚÔ˘Û›· ÙÔ˘ Ê·ÈÓÔ̤ÓÔ˘ ÙÔ˘ È‰Ú˘Ù‹ (founder effect) (4,5). ∏ Ê·ÈÓÔÙ˘È΋ ÌÂϤÙË ÔÈÎÔÁÂÓÂÈ·ÎÒÓ ÂÚÈÙÒÛÂˆÓ ¤‰ÂÈÍ fiÙÈ ÙÔ BBS Â›Ó·È ÌÈ· ÎÏ·ÛÈ΋ ·˘ÙÔۈ̷ÙÈ΋ ˘ÔÏÂÈfiÌÂÓË ‰È·Ù·Ú·¯‹ ÔÊÂÈÏfiÌÂÓË Û ÌÂÙ·ÏÏ¿ÍÂȘ ÂÓfi˜ ÁÂÓÂÙÈÎÔ‡ ÙfiÔ˘ (3). øÛÙfiÛÔ, ÔχÏÔΘ ÁÂÓÂÙÈΤ˜ ·Ó·Ï‡ÛÂȘ Ô˘ ·ÎÔÏÔ‡ıËÛ·Ó (·Ó¿Ï˘ÛË Û‡Ó‰ÂÛ˘, ÎψÓÔÔ›ËÛË ı¤Û˘, Ù·˘ÙÔÔ›ËÛË ÔÏ˘ÌÔÚÊÈÛÌÒÓ (SNPs) Ì ÌÈÎÚÔÛ˘ÛÙÔȯ›Â˜ Î·È ¯Ú‹ÛË ÁÂÓˆÌÈ΋˜ ‚ÈÔÏËÚÔÊÔÚÈ΋˜), ·ÔÎ¿Ï˘„·Ó Û˘ÓÔÏÈο 12 ÁÂÓÂÙÈÎÔ‡˜ ÙfiÔ˘˜ ˘‡ı˘ÓÔ˘˜ ÁÈ·

¶›Ó·Î·˜ 1. ¢È·ÁÓˆÛÙÈο ÎÚÈÙ‹ÚÈ· ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ Bardet-Biedl (1). ∞·ÈÙÂ›Ù·È Ë ·ÚÔ˘Û›· ›Ù 4 ÚˆÙ¢fiÓÙˆÓ ÎÚÈÙËÚ›ˆÓ, ›Ù 3 ÚˆÙ¢fiÓÙˆÓ Î·È 2 ‰Â˘ÙÂÚ¢fiÓÙˆÓ ÁÈ· ÙË ‰È¿ÁÓˆÛË ÙÔ˘ BBS ¶ÚˆÙ‡ÔÓÙ· ÎÚÈÙ‹ÚÈ· 1. ¶·¯˘Û·ÚΛ· 2. ¢˘ÛÙÚÔÊ›· Ú·‚‰›ˆÓ-ΈӛˆÓ 3. ¶ÔÏ˘‰·ÎÙ˘Ï›· 4. ª·ıËÛȷΤ˜ ‰˘ÛÎÔϛ˜ - ¡ÔËÙÈ΋ ˘ÛÙ¤ÚËÛË 5. ∞Ó‰ÚÈÎfi˜ ˘ÔÁÔÓ·‰ÈÛÌfi˜ 6. ¡ÂÊÚÈΤ˜ ·ÓˆÌ·Ï›Â˜ 7. ¢È·Ù·Ú·¯‹-ηı˘ÛÙ¤ÚËÛË ÏfiÁÔ˘ ¢Â˘ÙÂÚ‡ÔÓÙ· ÎÚÈÙ‹ÚÈ· 1. ™ÙÚ·‚ÈÛÌfi˜/ηٷÚÚ¿ÎÙ˘/·ÛÙÈÁÌ·ÙÈÛÌfi˜ 2. µÚ·¯˘‰·ÎÙ˘Ï›·/Û˘Ó‰·ÎÙ˘Ï›· 3. ∞Ó·Ù˘Íȷ΋ ηı˘ÛÙ¤ÚËÛË 4. ¶ÔÏ˘Ô˘Ú›·/ÔÏ˘‰È„›· (¡ÂÊÚÔÁÂÓ‹˜ ¿ÔÈÔ˜ ‰È·‚‹Ù˘) 5. ∞Ù·Í›·/Ùˆ¯fi˜ Û˘ÓÙÔÓÈÛÌfi˜ ÎÈÓ‹ÛˆÓ/·ÓÈÛÔÚÚÔ›· 6. ª¤ÙÚÈ· ˘ÂÚÙÔÓ›· ¿ÎÚˆÓ 7. ™·Î¯·Ú҉˘ ‰È·‚‹Ù˘ 8. ∫·Î‹ Ô‰ÔÓÙÔÊ˘˝·/˘Ô‰ÔÓÙ›·/ÌÈÎÚ¤˜ Ú›˙˜/ıÔψً ˘ÂÚÒ· 9. ∞ÚÈÛÙÂÚ‹ ÎÔÈÏȷ΋ ˘ÂÚÙÚÔÊ›·/Û˘ÁÁÂÓ‹˜ ηډÈÔ¿ıÂÈ· 10. ∏·ÙÈ΋ ›ÓˆÛË

ÙË ‰È·Ù·Ú·¯‹ (6,7,8,9,10,2). ∆Ô ÈÔ Û˘¯Ó¿ ÌÂÙ·ÏÏ·ÛÛfiÌÂÓÔ ÁÔÓ›‰ÈÔ ÛÙÔ˘˜ ∫·˘Î¿ÛÈÔ˘˜ ÏËı˘ÛÌÔ‡˜ Â›Ó·È ÙÔ BBS1 (23-56%) (11), ·ÎÔÏÔ˘ı› ÙÔ BBS10 (816%) (9) Î·È ÙÔ BBS2 (4-5%) (7). ∆· ˘fiÏÔÈ· ÁÔÓ›‰È· Û˘ÓÂÈÛʤÚÔ˘Ó ÙÔ Î·ı¤Ó· ÏÈÁfiÙÂÚÔ ·fi 5% ÛÙËÓ ·ıÔÁ¤ÓÂÈ· Ù˘ ÓfiÛÔ˘ (2), ÂÓÒ Û ÔÛÔÛÙfi ÂÚ›Ô˘ 25-30% ÙˆÓ ÂÚÈÙÒÛÂˆÓ ‰ÂÓ ·Ó¢ڛÛÎÂÙ·È ÌÂÙ¿ÏÏ·ÍË, ÁÂÁÔÓfi˜ Ô˘ ˘Ô‰ËÏÒÓÂÈ fiÙÈ ÌÔÚ› Ó· ˘¿Ú¯Ô˘Ó Î·È ¿ÏÏ· ÁÔÓ›‰È· ˘‡ı˘Ó· ÁÈ· ÙËÓ ÂÌÊ¿ÓÈÛË ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ (2). ∏ ÁÂÓÂÙÈ΋ ÔÏ˘ÏÔÎfiÙËÙ· Ù˘ ÓfiÛÔ˘ ¤ÁÎÂÈÙ·È Â›Û˘ ÛÙÔ ÁÂÁÔÓfi˜ fiÙÈ ›Ûˆ˜ ÙÔ BBS ·ÎÔÏÔ˘ı› Î·È ÌË ÌÂÓ‰¤ÏÂÈÔ ÙÚfiÔ ÎÏËÚÔÓÔÌÈÎfiÙËÙ·˜ Î·È Â›Ó·È ‰˘Ó·ÙfiÓ Ó· ··ÈÙÔ‡ÓÙ·È ÌÂÙ·ÏÏ¿ÍÂȘ Û 3 ·ÏÏËÏfiÌÔÚÊ· (>1 ÁÂÓÂÙÈÎÔ› ÙfiÔÈ) ÁÈ· ÙË Ê·ÈÓÔÙ˘È΋ ÂΉ‹ÏˆÛ‹ ÙÔ˘ (ÙÚÈ·ÏÏËÏÈ΋ ÎÏËÚÔÓÔÌÈÎfiÙËÙ·, triallelic inheritance) (12). ∏ ÎÏÈÓÈ΋ ÔÈÎÈÏÔÌÔÚÊ›· Î·È Ë ·ıÔÁ¤ÓÂÈ· ÙÔ˘ BBS ı· ÌÔÚÔ‡Û ӷ ÂÍËÁËı› Û ÈηÓÔÔÈËÙÈÎfi ‚·ıÌfi, Â¿Ó ‹Ù·Ó ηٷÓÔËÙ‹ Ë ÏÂÈÙÔ˘ÚÁ›· ÙˆÓ ÚˆÙÂ˚ÓÒÓ Ô˘ Έ‰ÈÎÔÔÈÔ‡ÓÙ·È ·fi Ù· ‰Ò‰Âη µµS ÁÔÓ›‰È·. ¶Ú¿ÁÌ·ÙÈ, ·fi ÙÔ 2003 ¤¯ÂÈ Á›ÓÂÈ Â·Ó¿ÛÙ·ÛË ÛÙÔÓ ÙÔ̤· ·˘Ùfi, ηıÒ˜ ‰È·ÈÛÙÒıËΠfiÙÈ ÙÔ µµS ÚÔηÏÂ›Ù·È ·fi ‚Ï¿‚˜ ÛÙÔ˘˜ ÚˆÙÔÁÂÓ›˜ ÎÚÔÛÛÔ‡˜ (primary cilia) Î·È Ù· ‚·ÛÈο ۈ̿ÙÈ· (basal bodies) ÔÏÏÒÓ ‰È·ÊÔÚÂÙÈÎÒÓ ÔÌ¿‰ˆÓ ΢ÙÙ¿ÚˆÓ (2). º·›ÓÂÙ·È fiÙÈ ÔÈ BBS ÚˆÙ½Ó˜ ÌÂÛÔÏ·‚Ô‡Ó Î·È Ú˘ıÌ›˙Ô˘Ó ÙȘ ÂÍ·ÚÙÒÌÂÓ˜ ·fi Û˘ÛÙ‹Ì·Ù· ÌÈÎÚÔÛˆÏËÓ›ÛÎˆÓ ‰È·Î˘ÙÙ·ÚÈΤ˜ ‰ÈÂÚÁ·Û›Â˜ ÌÂÙ·ÊÔÚ¿˜, Ì ÛÎÔfi ÙË ‰ËÌÈÔ˘ÚÁ›·, ÏÂÈÙÔ˘ÚÁÈÎfiÙËÙ· Î·È Û˘ÓÙ‹ÚËÛË ÙˆÓ ÚˆÙÔÁÂÓÒÓ ÎÚÔÛÛÒÓ ÙˆÓ Î˘ÙÙ¿ÚˆÓ (13). ¶·È‰È·ÙÚÈ΋ 2008;71:224-230

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∆Ô BBS ·Ó‹ÎÂÈ Û˘ÓÂÒ˜ Û ÌÈ· ÔÏÔ¤Ó· ·˘Í·ÓfiÌÂÓË Î·È ÂÙÂÚÔÁÂÓ‹ ÔÌ¿‰· ·ÛıÂÓÂÈÒÓ Î·È ‰È·Ù·Ú·¯ÒÓ Ô˘ Û¯ÂÙ›˙ÔÓÙ·È Ì ÙÔ˘˜ ÎÚÔÛÛÔ‡˜ ÙˆÓ Î˘ÙÙ¿ÚˆÓ (·ı‹ÛÂȘ ÙˆÓ ÎÚÔÛÛÒÓ - ciliopathies). AÚ¯Èο, Û ·˘Ù‹ ηٷ¯ˆÚ‹ıËÎ·Ó ÙÔ Û‡Ó‰ÚÔÌÔ ÙˆÓ ‰˘ÛΛÓËÙˆÓ ÎÚÔÛÛÒÓ, ÔÈ ÔÏ˘Î˘ÛÙÈÎÔ› ÓÂÊÚÔ›, Ë ÌÂÏ·Á¯ÚˆÛÙÈ΋ ·ÌÊÈ‚ÏËÛÙÚÔÂȉÔ¿ıÂÈ· Î·È Ë ·Ó·ÛÙÚÔÊ‹ ÛÏ¿Á¯ÓˆÓ (situs inversus) (14). ⁄ÛÙÂÚ· ·fi Ù· ÂÓÙ˘ˆÛȷο Â˘Ú‹Ì·Ù· Ù˘ ‚·ÛÈ΋˜ ¤Ú¢ӷ˜, ÚÔÛÙ¤ıËÎ·Ó ·ÚÁfiÙÂÚ· Î·È ·Ó·Ù˘ÍȷΤ˜ ‰È·Ù·Ú·¯¤˜, fiˆ˜ ÙÔ BBS, ÙÔ Û‡Ó‰ÚÔÌÔ Joubert, o ˘‰ÚÔΤʷÏÔ˜, ÙÔ Û‡Ó‰ÚÔÌÔ Alström, ÙÔ Û‡Ó‰ÚÔÌÔ Senior-Loken Î·È ÙÔ Û‡Ó‰ÚÔÌÔ Meckel (15,16,17). ™ÎÔfi˜ Ù˘ ÂÚÁ·Û›·˜ Â›Ó·È Ë ·ÚÔ˘Û›·ÛË ÙÔ˘ BBS ˆ˜ ÂÓfi˜ ·fi Ù· ·›ÙÈ· ·È‰È΋˜ ·¯˘Û·ÚΛ·˜, ȉ›ˆ˜ ·Ó¿ÌÂÛ· Û ·È‰È¿ Ì ÁÂÓÂÙÈΤ˜ ‰È·Ù·Ú·¯¤˜, Î·È Ë ·Ó¿Ï˘ÛË ÙˆÓ ÎÏÈÓÈÎÒÓ ÙÔ˘˜ ¯·Ú·ÎÙËÚÈÛÙÈÎÒÓ.

ÀÏÈÎfi Î·È Ì¤ıÔ‰ÔÈ ∆Ô ˘ÏÈÎfi Ù˘ ÌÂϤÙ˘ ·ÔÙ¤ÏÂÛ·Ó 11 ·È‰È¿ (9 ·ÁfiÚÈ· Î·È 2 ÎÔÚ›ÙÛÈ·, ËÏÈΛ·˜ 46 ËÌÂÚÒÓ ¤ˆ˜ 2 ÂÙÒÓ) Ô˘ ÂÍÂÙ¿ÛÙËÎ·Ó ÛÙÔ π·ÙÚÂ›Ô ∫ÏÈÓÈ΋˜ °ÂÓÂÙÈ΋˜ ÙËÓ ÔÎÙ·ÂÙ›· 1998-2006. ¢‡Ô ·ÁfiÚÈ· ‹Ù·Ó ·‰¤ÏÊÈ· (·ÛıÂÓ›˜ ¡Ô 4 Î·È ¡Ô 5), ÂÓÒ ¤Ó· ¿ÏÏÔ ·ÁfiÚÈ (·ÛıÂÓ‹˜ ¡Ô 3) ·‚›ˆÛ Û ËÏÈΛ· ‰‡Ô ÌËÓÒÓ ÂÚ›Ô˘, ÏfiÁˆ ÛÔ‚·Ú‹˜ Û˘ÁÁÂÓÔ‡˜ ηډÈÔ¿ıÂÈ·˜. ∏ ‰È¿ÁÓˆÛË ¤ÁÈÓ ·ÊÔ‡ Ï‹ÊıËÎ·Ó ˘fi„Ë Ù· ÚˆÙ‡ÔÓÙ· Î·È Ù· ‰Â˘ÙÂÚ‡ÔÓÙ· ÎÏÈÓÈο ÎÚÈÙ‹ÚÈ· ÁÈ· ÙÔ BBS. ™˘ÁÎÂÎÚÈ̤ӷ, ··ÈÙÔ‡ÓÙ·È 4 ·fi Ù· 6 ÚˆÙ‡ÔÓÙ· ‹ 3 ·fi Ù· 6 ÚˆÙ‡ÔÓÙ· Î·È ÙÔ˘Ï¿¯ÈÛÙÔÓ 2 ‰Â˘ÙÂÚ‡ÔÓÙ· ÎÚÈÙ‹ÚÈ· ÁÈ· ÙËÓ ÙÂÎÌËÚ›ˆÛË Ù˘ ‰È¿ÁÓˆÛ˘. √È ·ÛıÂÓ›˜ ÂÍÂÙ¿ÛıËÎ·Ó ÙÔ˘Ï¿¯ÈÛÙÔÓ ‰‡Ô ÊÔÚ¤˜ ÛÙÔ π·ÙÚÂ›Ô ∫ÏÈÓÈ΋˜ °ÂÓÂÙÈ΋˜. ∂›Û˘, ¤ÁÈÓ ÏÂÙÔÌÂÚ‹˜ ÔÊı·ÏÌÔÏÔÁÈ΋ ÂͤٷÛË. √ ¤ÏÂÁ¯Ô˜ ÙˆÓ ¯ÚˆÌÔÛˆÌ¿ÙˆÓ Î·È ÙˆÓ ¤ÓÙÂη ·È‰ÈÒÓ ‹Ù·Ó Ê˘ÛÈÔÏÔÁÈÎfi˜. ŸÏ· Ù· ·È‰È¿ ˘Ô‚Ï‹ıËÎ·Ó Û ÌÔÚȷ΋ ·Ó¿Ï˘ÛË DNA ÁÈ· ÙÔ Û‡Ó‰ÚÔÌÔ Prader-Willi, ÂÂȉ‹ Â›Ó·È ÙÔ ÈÔ Û˘¯Ófi ·›ÙÈÔ Û˘Ó‰ÚÔÌÈ΋˜ ·¯˘Û·ÚΛ·˜, Î·È Ù· ·ÔÙÂϤÛÌ·Ù· ‹Ù·Ó ·ÚÓËÙÈο. ªÔÚȷ΋ ·Ó¿Ï˘ÛË DNA ÁÈ· ÙÔ BBS ‰ÂÓ ıˆڋıËΠÛÎfiÈÌË, ÏfiÁˆ ÙÔ˘ ˘„ËÏfiÙ·ÙÔ˘ ÎfiÛÙÔ˘˜ Ù˘ ÂͤٷÛ˘, ÂÍ·ÈÙ›·˜ Ù˘ ÔÏ˘ÁÔÓȉȷ΋˜ ʇÛ˘ Ù˘ ÓfiÛÔ˘ Î·È ÙÔ˘ ¯·ÌËÏÔ‡ ÔÛÔÛÙÔ‡ ·Ó‡ÚÂÛ˘ ÌÂÙ·ÏÏ¿ÍÂˆÓ (40-50%) (2).

∞ÔÙÂϤÛÌ·Ù· ∂ÓÓ¤· ·fi Ù· ¤ÓÙÂη ·È‰È¿ (81,8%) ·ÚÔ˘Û›·˙·Ó ÎÂÓÙÚÈÎÔ‡ Ù‡Ô˘ ·¯˘Û·ÚΛ· (µ™>90-97˘ ∂£) ηٿ ÙËÓ ÚÒÙË ÂͤٷÛË. √È ·ÛıÂÓ›˜ ¡Ô 3 Î·È ¡Ô 11 ‹Ù·Ó ÌÈÎÚ‹˜ ËÏÈΛ·˜ (46 ËÌÂÚÒÓ Î·È 13 ÌËÓÒÓ, ·ÓÙ›ÛÙÔȯ·) Î·È Â›¯·Ó Ê˘ÛÈÔÏÔÁÈο ۈ̷ÙÔÌÂÙÚÈο ÛÙÔȯ›·. √Êı·ÏÌÔÏÔÁÈο ÚÔ‚Ï‹Ì·Ù· ·ÚÔ˘Û›·Û·Ó 8/11 ·È‰È¿ (72,3%), ·ÏÏ¿ ÌÂÏ·Á¯ÚˆÛÙÈ΋ ·ÌÊÈ‚ÏËÛÙÚÔÂȉÔ¿ıÂÈ· ÂÌÊ¿ÓÈÛ·Ó 5/8 ·È‰È¿. ¢È·ıÏ·ÛÙÈο ÚÔ‚Ï‹Ì·Ù·, fiˆ˜ Ì˘ˆ›· Î·È ·ÛÙÈÁÌ·ÙÈÛÌfi, ›¯·Ó ÌfiÓÔ 2/8 ·ÛıÂÓ›˜, ÂÓÒ Ë ·ÛıÂÓ‹˜ ¡Ô 8 ·ÚÔ˘Û›·˙ ÔÚÈ˙fiÓÙÈÔ Ó˘ÛÙ·ÁÌfi. ŸÏÔÈ ÔÈ ·ÛıÂÓ›˜ Ù˘ ÌÂϤÙ˘ ›¯·Ó ÌÔÚÊÔÏÔÁÈPaediatriki 2008;71:224-230

Τ˜ ·ÓˆÌ·Ï›Â˜ ÙˆÓ ¿ÎÚˆÓ, ΢ڛˆ˜ Â͈-·ÍÔÓÈ΋ ÔÏ˘‰·ÎÙ˘Ï›· (8/11, 72,3%) Û ¤Ó· ‹ ÂÚÈÛÛfiÙÂÚ· ¿ÎÚ·. ™˘Ó‰·ÎÙ˘Ï›Â˜, ÎÏÈÓÔ‰·ÎÙ˘Ï›Â˜ Î·È ‚Ú·¯˘‰·ÎÙ˘Ï›Â˜ ·Ú·ÙËÚ‹ıËÎ·Ó Â›Û˘, ÛÂ Û˘Ó‰˘·ÛÌfi ¿ÓÙ· Ì ÔÏ˘‰·ÎÙ˘Ï›·. ªÂÌÔӈ̤ÓË Û˘Ó‰·ÎÙ˘Ï›· ¯ˆÚ›˜ ÔÏ˘‰·ÎÙ˘Ï›· ‹ ¿ÏϘ ·ÓˆÌ·Ï›Â˜ ·ÚÔ˘Û›·Û ÌfiÓÔ Ë ·ÛıÂÓ‹˜ ¡Ô 10. ∞Ó·ÙÔÌÈΤ˜ ·ÓˆÌ·Ï›Â˜ ÛÙÔ Ô˘ÚÔÔÈÔÁÂÓÓËÙÈÎfi Û‡ÛÙËÌ· Ì ·ÔÙ¤ÏÂÛÌ· ˘ÔÁÔÓ·‰ÈÛÌfi ·Ú·ÙËÚ‹ıËÎ·Ó Î˘Ú›ˆ˜ Û ·ÁfiÚÈ· (5/9, 55,5%), 4/5 ·ÁfiÚÈ· ·ÚÔ˘Û›·Û·Ó ÎÚ˘„ÔÚ¯›·, 2/5 ÎÚ˘„ÔÚ¯›· ÛÂ Û˘Ó‰˘·ÛÌfi Ì ÌÈÎÚfi ¤Ô˜ Î·È ¤Ó· ·ÁfiÚÈ Â›¯Â ÌfiÓÔ ˘ÔÛ·‰›· (·ÛıÂÓ‹˜ ¡Ô 9). ŒÓ· ·fi Ù· ‰‡Ô ÎÔÚ›ÙÛÈ· (·ÛıÂÓ‹˜ ¡Ô 8) ËÏÈΛ·˜ 15 ÂÙÒÓ ‰ÂÓ Â›¯Â ¤ÌÌËÓÔ Ú‡ÛË. ¡ÂÊÚÔ¿ıÂÈ· ·Ú·ÙËÚ‹ıËΠÌfiÓÔ ÛÙÔÓ ·ÛıÂÓ‹ ¡Ô 1, Ô ÔÔ›Ô˜ ›¯Â ‰È¿Ù·ÛË ÙÔ˘ ˘ÂÏÔÎ·Ï˘ÎÈÎÔ‡ Û˘ÛÙ‹Ì·ÙÔ˜ ‰ÂÍÈ¿, ΢ÛÙÂÔÔ˘ÚËÙËÚÈ΋ ·ÏÈÓ‰ÚfiÌËÛË, ÂÎÎÔÏÒÌ·Ù· Ô˘ÚÔ‰fi¯Ô˘ ·ÛÙ˘ Î·È Û˘ÓÔ‰fi ¤ÎÙˆÛË Ù˘ ÏÂÈÙÔ˘ÚÁ›·˜ ÙÔ˘ ‰ÂÍÈÔ‡ ÓÂÊÚÔ‡. ŸÛÔÓ ·ÊÔÚ¿ ÙËÓ „˘¯ÔÎÈÓËÙÈ΋ ÂͤÏÈÍË, Ë ÏÂÈÔ„ËÊ›· ÙˆÓ ·È‰ÈÒÓ (7/11, 63,4%) ÂÌÊ¿ÓÈ˙ ÚÔ‚Ï‹Ì·Ù· ‰È·ÊfiÚÔ˘ ‚·ıÌÔ‡. ªfiÓÔ Ô ·ÛıÂÓ‹˜ ¡Ô 7, ËÏÈΛ·˜ 8 ÂÙÒÓ, ›¯Â ‚·ÚÈ¿ „˘¯ÔÎÈÓËÙÈ΋ ηı˘ÛÙ¤ÚËÛË, ÂÓÒ Ù· ˘fiÏÔÈ· ·È‰È¿ ›¯·Ó ΢ڛˆ˜ ÚÔ‚Ï‹Ì·Ù· ÛÙÔ ÏfiÁÔ, ÙÔ Û˘Á¯ÚÔÓÈÛÌfi ÙˆÓ ÎÈÓ‹ÛÂˆÓ Î·È ÙËÓ ÂÈÎÔÈÓˆÓ›·. √ ·ÛıÂÓ‹˜ ¡Ô 3 ·‚›ˆÛ ÏfiÁˆ ÛÔ‚·Ú‹˜ Û‡ÌÏÔ΢ Û˘ÁÁÂÓÔ‡˜ ηډÈÔ¿ıÂÈ·˜ Û ËÏÈΛ· ÌfiÏȘ 2 ÌËÓÒÓ, ÌÂ Û˘Ó¤ÂÈ· ÙËÓ ÏËÌÌÂÏ‹ ÂͤٷÛË Î·È Ï‹„Ë ÛÙÔȯ›ˆÓ. ™ÙÔ˘˜ ·ÛıÂÓ›˜ Ù˘ ÌÂϤÙ˘ ÛËÌÂÈÒıËÎÂ, Â›Û˘, Ì›· ÔÈÎÔÁÂÓÂȷ΋ ÂÚ›ÙˆÛË (·ÛıÂÓ›˜ ¡Ô 4 Î·È 5). ∂ÚfiÎÂÈÙÔ ÁÈ· ‰‡Ô ·‰¤ÏÊÈ·, ·ÁfiÚÈ·, ËÏÈΛ·˜ 15,5 Î·È 5 ÂÙÒÓ ·ÓÙ›ÛÙÔȯ·, Ù· ÔÔ›· ‹Ù·Ó ·È‰È¿ Ê·ÈÓÔÙ˘Èο ˘ÁÈÒÓ ÁÔÓ¤ˆÓ, ÌË Û˘ÁÁÂÓÒÓ ÌÂٷ͇ ÙÔ˘˜. ¶·Ú¿ ÙÔ ÁÂÁÔÓfi˜ fiÙÈ ‹Ù·Ó Î·È Ù· ‰‡Ô ÂÍ›ÛÔ˘ ·¯‡Û·Úη Î·È ˘ÛÙÂÚÔ‡Û·Ó ÓÔËÙÈο, ·ÚÔ˘Û›·˙·Ó οÔȘ ÌÔÚÊÔÏÔÁÈΤ˜ ‰È·ÊÔÚ¤˜ ÌÂٷ͇ ÙÔ˘˜. ™˘ÁÎÂÎÚÈ̤ӷ, Ô ·ÛıÂÓ‹˜ ¡Ô 4 ›¯Â ‚·Ú‡ÙÂÚË ÎÏÈÓÈ΋ ÂÈÎfiÓ·, Ì ‰È¿¯˘ÙË ÂÎʇÏÈÛË ÙÔ˘ ·ÌÊÈ‚ÏËÛÙÚÔÂȉԇ˜ Î·È ÂÍ·‰·ÎÙ˘Ï›· Î·È ÛÙ· Ù¤ÛÛÂÚ· ¿ÎÚ·. ∞ÓÙ›ıÂÙ·, Ô ·‰ÂÏÊfi˜ ÙÔ˘ (·ÛıÂÓ‹˜ ¡Ô 5) ÂÌÊ¿ÓÈ˙ ÌfiÓÔ ·ÛÙÈÁÌ·ÙÈÛÌfi Î·È Ì˘ˆ›·, ÂÍ·‰·ÎÙ˘Ï›· ÛÙ· ÙÚ›· ¿ÎÚ·, ÂÈϤÔÓ ‰Â Î·È ÎÚ˘„ÔÚ¯›·. ∞Ó·Ï˘ÙÈο, Ù· ÎÏÈÓÈο ÛÙÔȯ›· Î·È Ù· ·ÔÙÂϤÛÌ·Ù· Ù˘ ÌÂϤÙ˘ Û˘ÁÎÂÓÙÚÒÓÔÓÙ·È ÛÙÔÓ ¶›Ó·Î· 2. ™ÙËÓ ∂ÈÎfiÓ· 1 ·ÂÈÎÔÓ›˙ÔÓÙ·È ÔÈ ·ÛıÂÓ›˜ ¡Ô 7 Î·È 10.

™˘˙‹ÙËÛË ∆Ô µµS ·ÔÙÂÏ› ¤Ó· Û¿ÓÈÔ ÁÂÓÂÙÈÎfi ·›ÙÈÔ ·¯˘Û·ÚΛ·˜, ÙÔ ÔÔ›Ô Ú¤ÂÈ Ó· ·Ó·ÁÓˆÚ›˙ÂÙ·È. ∞Ó‹ÎÂÈ ÛÙȘ ·ı‹ÛÂȘ ÙˆÓ ÎÚÔÛÛÒÓ (ciliopathies), ÔÈ Ôԛ˜ Â›Ó·È ·Ûı¤ÓÂȘ Ô˘ ÚÔÛ‚¿ÏÏÔ˘Ó Û˘Ó‹ıˆ˜

Pediatri May-Jun 08

23-05-08

15:57

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∂ÈÎfiÓ· 1. √È ·ÛıÂÓ›˜ ¡Ô 7 Î·È 10. ¶·Ú·ÙËÚÂ›Ù·È ¤ÓÙÔÓË ·¯˘Û·ÚΛ· ÎÂÓÙÚÈÎÔ‡ Ù‡Ô˘ Î·È ˘ÔÁÔÓ·‰ÈÛÌfi˜ ÛÙÔÓ ·ÛıÂÓ‹ ¡Ô 7.

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fiÏ· Ù· Û˘ÛÙ‹Ì·Ù· ÙÔ˘ ·ÓıÚÒÔ˘ (17). ∏ ÂÙÂÚÔÁ¤ÓÂÈ· ÙˆÓ ·ı‹ÛÂˆÓ ·˘ÙÒÓ ˘ÔÁÚ·ÌÌ›˙ÂÈ ÙÔ˘˜ ÎÂÊ·Ï·ÈÒ‰ÂȘ ‚ÈÔÏÔÁÈÎÔ‡˜ ÚfiÏÔ˘˜ ÙˆÓ ÎÚÔÛÛÒÓ Î·È ÙˆÓ Ì·ÛÙÈÁ›ˆÓ Û fiÏ· ۯ‰fiÓ Ù· ·ÙÙ·Ú· ÙÔ˘ ·ÓıÚÒÈÓÔ˘ ÔÚÁ·ÓÈÛÌÔ‡, ηıÒ˜ Ù· ÔÚÁ·Ó›‰È· ·˘Ù¿ Û˘Ì‚¿ÏÏÔ˘Ó ÛÙËÓ Î˘ÙÙ·ÚÈ΋ ΛÓËÛË, ÙË ÌÂٷΛÓËÛË ˘ÁÚÒÓ ·fi ÙËÓ Î˘ÙÙ·ÚÈ΋ ÂÈÊ¿ÓÂÈ· (ÁÈ· ·Ú¿‰ÂÈÁÌ· ·Ô‚ÔÏ‹ ‚ϤÓÓ˘ ·fi ÙÔ ÙÚ·¯ÂÈÔ‚ÚÔÁ¯ÈÎfi ‰¤Ó‰ÚÔ, ÌÂٷΛÓËÛË ∂¡À ÛÙÔ ∫¡™) Î·È ÙËÓ ·Ó··Ú·ÁˆÁ‹, ÂÓÒ ‰ÚÔ˘Ó Î·È ˆ˜ Ì˯·ÓÔ-, ¯ËÌÂÈÔ- Î·È ÊˆÙÔ·ÈÛıËÙËÚȷο fiÚÁ·Ó·. ∆ÂÏÂ˘Ù·›· ‰Â‰Ô̤ӷ ·Ó·Ê¤ÚÔ˘Ó fiÙÈ ¤Ó·˜ ÂȉÈÎfi˜ Ù‡Ô˜ ÎÚÔÛÛÒÓ (nodal cilia) Û˘ÌÌÂÙ¤¯ÂÈ Û ԉԇ˜ ÛËÌ·ÙÔ‰fiÙËÛ˘ Ô˘ ηıÔÚ›˙Ô˘Ó ÙÔÓ ·ÚÈÛÙÂÚfi-‰ÂÍÈfi ¿ÍÔÓ· ÙÔ˘ ÛÒÌ·ÙÔ˜ ηٿ ÙËÓ ÂÌ‚Ú˘˚΋ ·Ó¿Ù˘ÍË (18). ∏ ·ıÔÁ¤ÓÂÈ· ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ ¤¯ÂÈ ÔχÏÔÎË ÌÔÚȷ΋ ‚¿ÛË, ηıÒ˜ 12 ÁÔÓ›‰È· ̤¯ÚÈ ÛÙÈÁÌ‹˜ ıˆÚÔ‡ÓÙ·È ˘‡ı˘Ó· ÁÈ· ÙÔ Ê·ÈÓfiÙ˘Ô Î·È Îˆ‰ÈÎÔÔÈÔ‡Ó ÚˆÙ½Ó˜ Ô˘ Û˘ÌÌÂÙ¤¯Ô˘Ó Û ۇÓıÂÙ˜ ΢ÙÙ·ÚÈΤ˜ Ô‰Ô‡˜ (19). √È ÌÔÚȷΤ˜ ·˘Ù¤˜ Ô‰Ô› ·ıÔÁ¤ÓÂÛ˘ ÙÔ˘ BBS ÂÚÈÏ·Ì‚¿ÓÔ˘Ó ÙÔ Ì˯·ÓÈÛÌfi Ù˘ ÂÓ‰ÔÌ·ÛÙÈÁȷ΋˜ ÌÂÙ·ÊÔÚ¿˜ (IFT - Intraflagellar transport) (20), ÙËÓ PCP o‰fi (Planar Cell Polarity pathway) (21) Î·È Ô‰Ô‡˜ ‰È·Î˘ÙÙ·ÚÈ΋˜ ÌÂÙ·ÊÔÚ¿˜ ÔÚÁ·Óȉ›ˆÓ. ∆· ̤¯ÚÈ ÛÙÈÁÌ‹˜ Û˘ÌÂÚ¿ÛÌ·Ù· ¿ÓÙˆ˜, Û¯ÂÙÈο Ì ÙËÓ ÔχÏÔÎË ÎÏËÚÔÓÔÌÈÎfiÙËÙ¿ ÙÔ˘ Â›Ó·È fiÙÈ: ·) ÌÂÙ·ÏÏ¿ÍÂȘ ÛÙ· ÁÔÓ›‰È· BBS2, BBS4, BBS6 Û˘Ó‰¤ÔÓÙ·È Ì ÌÂÙ¿ÏÏ·ÍË Î·È Û ¤Ó· ÙÚ›ÙÔ ·ÏÏËÏfiÌÔÚÊÔ (22), ˆÛÙfiÛÔ >80% ÙˆÓ ÌÂÙ·ÏÏ¿ÍÂˆÓ ÎÏËÚÔÓÔÌÔ‡ÓÙ·È Ì ÙÔÓ ÎÏ·ÛÈÎfi ÌÂÓ‰¤ÏÂÈÔ ·˘ÙÔۈ̷ÙÈÎfi ˘ÔÏÂÈfiÌÂÓÔ ÙÚfiÔ, fiˆ˜ Û˘Ó¤‚Ë Î·È ÛÙËÓ ÔÈÎÔÁÂÓÂȷ΋ ÂÚ›ÙˆÛË Ù˘ ÌÂϤÙ˘ Ì·˜ Î·È ·ÊÔÚÔ‡Ó ÙÔ BBS1 ÁÔÓ›‰ÈÔ (11) Î·È ‚) ÌÂÙ·ÏÏ¿ÍÂȘ Û ¤Ó· ÙÚ›ÙÔ ·ÏÏËÏfiÌÔÚÊÔ Ê·›ÓÂÙ·È fiÙÈ ·ÛÎÔ‡Ó ÙÚÔÔÔÈËÙÈÎfi Î·È ÔÏϤ˜ ÊÔÚ¤˜ ÂÓÈÛ¯˘ÙÈÎfi ·ÔÙ¤ÏÂÛÌ· ÛÙÔ Ê·ÈÓfiÙ˘Ô, Û fi,ÙÈ ·ÊÔÚ¿ ÙË ‰È›ۉ˘ÛË (penetrance), ÙË ‚·Ú‡ÙËÙ· Î·È ÙÔ ¯ÚfiÓÔ ¤Ó·Ú͢ Ù˘ ÓfiÛÔ˘ (22,23). ¶·È‰È·ÙÚÈ΋ 2008;71:224-230

Pediatri May-Jun 08

23-05-08

15:57

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¶›Ó·Î·˜ 3. ™˘ÓÈÛÙÒÌÂÓÔ˜ ·Ú¯ÈÎfi˜ ¤ÏÂÁ¯Ô˜ Î·È ·Ú·ÎÔÏÔ‡ıËÛË ·ÛıÂÓÒÓ Ì ۇӉÚÔÌÔ Bardet-Biedl (1) ∞Ú¯ÈÎfi˜ ¤ÏÂÁ¯Ô˜ ñ ∏ÏÂÎÙÚÔ·ÌÊÈ‚ÏËÛÙÚÔÂȉÔÁÚ¿ÊËÌ·/ÔÙÈο ÚÔÎÏËÙ¿ ‰˘Ó·ÌÈο ñ U/S ÓÂÊÚÒÓ ñ ∂Ó‰ÔÊϤ‚È· ˘ÂÏÔÁÚ·Ê›· ‹ ÛÈÓıËÚÔÁÚ¿ÊËÌ· Ì DMSA/DTPA ñ ∏∫° + echo ηډȿ˜ ñ ∞ÔÎÏÂÈÛÌfi˜ Û˘Ó‰ÚfiÌÔ˘ Prader-Willi Ì ÌÔÚȷ΋ ÁÂÓÂÙÈ΋ ·Ó¿Ï˘ÛË ñ CT/MRI ÂÁÎÂÊ¿ÏÔ˘-ÓÂÊÚÒÓ ñ ∏∂° ñ ∂ÎÙ›ÌËÛË ÏfiÁÔ˘ ∞Ó¿ 6 Ì‹Ó˜ ñ °ÂÓÈ΋ Ô‡ÚˆÓ ∞Ó¿ ¤ÙÔ˜ ñ ∞ÚÙËÚȷ΋ ›ÂÛË ñ ¶ÚÔÛ‰ÈÔÚÈÛÌfi˜ Ô˘Ú›·˜ Î·È ÎÚ·ÙÈÓ›Ó˘

∆Ô ÚÔÂÍ¿Ú¯ÔÓ Û‡Ìو̷ Â›Ó·È Ë ·¯˘Û·ÚΛ· ÎÂÓÙÚÈÎÔ‡ Ù‡Ô˘, ÙËÓ ÔÔ›· ·ÚÔ˘Û›·ÛÂ Î·È Ë ÏÂÈÔ„ËÊ›· ÙˆÓ ·ÛıÂÓÒÓ Ì·˜ (81,8%). AÓ¿ÏÔÁ· Ì ٷ ÎÚÈÙ‹ÚÈ· ̤ÙÚËÛ˘, Ë Û˘¯ÓfiÙËÙ· Ù˘ ·¯˘Û·ÚΛ·˜ Î˘Ì·›ÓÂÙ·È ·fi 72 ¤ˆ˜ 96% (1,24). ∞Ú¯›˙ÂÈ ÛÙËÓ ·È‰È΋ ËÏÈΛ·, ÂȉÂÈÓÒÓÂÙ·È Ì ÙËÓ ¿ÚÔ‰Ô ÙÔ˘ ¯ÚfiÓÔ˘, Ë ‰Â ·ÈÙÈÔÏÔÁ›· Ù˘ Â›Ó·È ÂÓ ÔÏÏÔ›˜ ¿ÁÓˆÛÙË Î·È ÌÔÚ› Ó· Û˘Óԉ‡ÂÙ·È ·fi ‰È·Ù·Ú·¯‹ Ù˘ ηÌ‡Ï˘ ÁÏ˘Îfi˙˘ Î·È ˘¤ÚÙ·ÛË. ∏ ·Ó¿Ù˘ÍË ÌÔÓÙ¤ÏˆÓ ÔÓÙÈÎÒÓ Î·È Î·ÙÒÙÂÚˆÓ Â˘Î·Ú˘ˆÙÈÎÒÓ ÔÚÁ·ÓÈÛÌÒÓ ‰›ÓÂÈ Î¿ÔȘ ÚÒÙ˜ ÂӉ›ÍÂȘ Ù˘ ·ıÔÁ¤ÓÂÈ·˜ ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘: ·) ·Ú·ÙËÚ‹ıËΠ‰È·Ù·Ú·¯‹ Ù˘ ÔÌÔÈfiÛÙ·Û˘ Ù˘ ÁÏ˘Îfi˙˘ Ô˘ ›Ûˆ˜ ÌÔÚ› Ó· ·Ô‰Ôı› ÛÙÔ Ì¤ÏÏÔÓ Û Ӥ· BBS ÁÔÓ›‰È· Ù· ÔÔ›· ‰ÚÔ˘Ó ÛÙÔ˘˜ ÎÚÔÛÛÔ‡˜ ÙˆÓ Î˘ÙÙ¿ÚˆÓ ÙˆÓ ÓËÛȉ›ˆÓ ÙÔ˘ ·ÁÎÚ¤·ÙÔ˜ (25), ‚) ÔÏÏ¿ Ó¢ÚÈο ·ÙÙ·Ú· Ô˘ Â›Ó·È Â˘·›ÛıËÙ· ÛÙË ÏÂÙ›ÓË, Ë ÔÔ›· Â›Ó·È Ú˘ıÌÈÛÙÈ΋ ÔÚÌfiÓË ÙÔ˘ ‚¿ÚÔ˘˜, ¤¯Ô˘Ó ÛÙËÓ ÂÈÊ¿ÓÂÈ· ÙˆÓ ÎÚÔÛÛÒÓ ÙÔ˘˜ ˘ԉԯ›˜ ÁÈ· ÙË ÛˆÌ·ÙÔÛÙ·Ù›ÓË-3 Î·È ÙÔ ÛÂÚÔÙÔÓÈÓÂÚÁÈÎfi ˘Ô‰Ô¯¤· 5-∏∆6, ÔÈ ÔÔ›ÔÈ ·›˙Ô˘Ó ÚfiÏÔ ÛÙË Ú‡ıÌÈÛË ÙÔ˘ ÌÂÙ·‚ÔÏÈÛÌÔ‡ (26). Œ¯ÂÈ ‚ÚÂı› fiÙÈ ÌÂÙ·ÏÏ¿ÍÂȘ ÙÔ˘ BBS1 ÁÔÓȉ›Ô˘ ‰È·Ù·Ú¿ÛÛÔ˘Ó ÙËÓ ÂÓ‰Ô΢ÙÙ·ÚÈ΋ ÌÂÙ·ÊÔÚ¿ ÙˆÓ ˘Ô‰Ô¯¤ˆÓ ·˘ÙÒÓ Ì¤Ûˆ ÙˆÓ ÎÚÔÛÛÒÓ (IFT Ô‰fi˜) Î·È Û˘ÓÂÒ˜ ‰È·Ù·Ú¿ÛÛÔ˘Ó Î·È ÙÔ ÌÂÙ·‚ÔÏÈÛÌfi (26) Î·È Á) ÙÔ BBS1 ÁÔÓ›‰ÈÔ Û˘ÌÌÂÙ¤¯ÂÈ Û ̛· ÔÌ¿‰· ÁÔÓȉ›ˆÓ ÙˆÓ ÂÓÙÂÚÈÎÒÓ ÎÚÔÛÛÒÓ (kat-1, tub1), ˘‡ı˘ÓˆÓ ÁÈ· ÙÔ ÌÂÙ·‚ÔÏÈÛÌfi Î·È ÙËÓ ·Ôı‹Î¢ÛË Ï›Ô˘˜ (27). ¶ÏËı˘ÛÌȷΤ˜ ÌÂϤÙ˜ Û ·ÓıÚÒÔ˘˜ ¤‰ÂÈÍ·Ó Û˘Û¯¤ÙÈÛË ÙˆÓ ÌÂÙ·ÏÏ¿ÍÂˆÓ ÙÔ˘ BBS6 ÁÔÓȉ›Ô˘ Ì ÛÔ‚·Ú‹ ·¯˘Û·ÚΛ· Î·È ÚfiÛÊ·Ù· ÂÌÏÔ΋ ÔÏ˘ÌÔÚÊÈÛÌÒÓ ÙˆÓ µµS2, 4, 6 ÁÔÓÈPaediatriki 2008;71:224-230

‰›ˆÓ ÛÙËÓ ·ıÔÁ¤ÓÂÛË Ù˘ ÎÔÈÓ‹˜ ·¯˘Û·ÚΛ·˜ ÙˆÓ ÂÓËÏ›ÎˆÓ (28). ∞ÌÊÈ‚ÏËÛÙÚÔÂȉÔ¿ıÂÈ· ·Ó¢ڛÛÎÂÙ·È Î˘Ú›ˆ˜ ÙËÓ ÚÒÙË ‰ÂηÂÙ›· Ù˘ ˙ˆ‹˜ Î·È ·Ú·ÙËÚÂ›Ù·È Û fiÏÔ˘˜ ÙÔ˘˜ ·ÛıÂÓ›˜ ̤¯ÚÈ ÙË ‰Â‡ÙÂÚË ‰ÂηÂÙ›· Û ÔÛÔÛÙfi 93% (1). ™ÙË ÌÂϤÙË Ì·˜ 5/11 ·È‰È¿ (45,5%) ›¯·Ó ‰È·ÁÓˆṲ̂ÓË ·ÌÊÈ‚ÏËÛÙÚÔÂȉÔ¿ıÂÈ·, ÁÂÁÔÓfi˜ ÙÔ ÔÔ›Ô ÂÍËÁ›ٷÈ, ηıÒ˜ ÌfiÓÔ 4 ·È‰È¿ ‹Ù·Ó ËÏÈΛ·˜ ¿Óˆ ÙˆÓ 8 ÂÙÒÓ. ¶ÚfiÎÂÈÙ·È ÁÈ· ¿Ù˘Ë ÌÂÏ·Á¯ÚˆÛÙÈ΋ ·ÌÊÈ‚ÏËÛÙÚÔÂȉÔ¿ıÂÈ· ÏfiÁˆ ‰˘ÛÙÚÔÊ›·˜ Î·È ·fiÙˆÛ˘ ÙˆÓ ÎˆÓ›ˆÓ Î·È ÙˆÓ Ú·‚‰›ˆÓ, ÏfiÁˆ η΋˜ IFT ÌÂÙ·ÊÔÚ¿˜ Ù˘ ÚÔ‰Ô„›Ó˘ (29). ¢È·ÁÈÁÓÒÛÎÂÙ·È ·Ú¯Èο ˆ˜ Ó˘ÎÙÂÚÈÓ‹ ·ÒÏÂÈ· fiÚ·Û˘. ∏ ÂͤÏÈÍË Ù˘ ¿ıËÛ˘ Â›Ó·È Ù·¯‡ÙÂÚË ·fi ÙËÓ Ù˘È΋ ·ÌÊÈ‚ÏËÛÙÚÔÂȉÔ¿ıÂÈ· Î·È Î·Ù·Ï‹ÁÂÈ Û هÊψÛË Î·Ù¿ ̤ÛÔ fiÚÔ ÂÙ¿ ¯ÚfiÓÈ· ÌÂÙ¿ ÙËÓ ¤Ó·ÚÍË (1). ÕÏϘ ÔÊı·ÏÌÈΤ˜ ‚Ï¿‚˜ ÂÚÈÏ·Ì‚¿ÓÔ˘Ó ·ÛÙÈÁÌ·ÙÈÛÌfi, Ì˘ˆ›· Î·È ÔÙÈ΋ ·ÙÚÔÊ›·, fiˆ˜ ·Ú·ÙËÚ‹ıËÎ·Ó Î·È ÛÙÔ˘˜ ·ÛıÂÓ›˜ Ì·˜, ηıÒ˜ Â›Û˘ ÛÙÚ·‚ÈÛÌfi, ηٷÚÚ¿ÎÙË, ·¯ÚˆÌ·ÙÔ„›· Î·È Ô›‰ËÌ· ÔÙÈ΋˜ ıËÏ‹˜ (1). ™ÙË ‚È‚ÏÈÔÁÚ·Ê›·, 69% ÙˆÓ ·Û¯fiÓÙˆÓ ·ÚÔ˘ÛÈ¿˙ÂÈ ÙÔ˘Ï¿¯ÈÛÙÔÓ ¤Ó· ˘ÂÚ¿ÚÈıÌÔ ‰¿ÎÙ˘ÏÔ, Ï‹Úˆ˜ Û¯ËÌ·ÙÈṲ̂ÓÔ Ô˘ ÂÓÙÔ›˙ÂÙ·È ÛÙËÓ ¤Íˆ ÏÂ˘Ú¿ Ù˘ ¿ÎÚ·˜ ¯ÂÈÚfi˜ ‹ ÙÔ˘ Ô‰fi˜ (post-axial polydactyly) (1). ∫·Ù¿ 21% Û˘Ó˘¿Ú¯ÂÈ Û˘Ó‰·ÎÙ˘Ï›· 2Ô˘-3Ô˘ ‰·ÎÙ‡ÏÔ˘ Î·È ·ÎÔÏÔ˘ıÔ‡Ó ‚Ú·¯˘‰·ÎÙ˘Ï›· Î·È ÎÏÈÓÔ‰·ÎÙ˘Ï›· (1). ™ÙË ÌÂϤÙË Ì·˜, fiÏÔÈ ÔÈ ·ÛıÂÓ›˜ ›¯·Ó ÌÔÚÊÔÏÔÁÈΤ˜ ·ÓˆÌ·Ï›Â˜ ÙˆÓ ‰·ÎÙ‡ÏˆÓ Ì ÚÔÂÍ¿Ú¯Ô˘Û· ÙËÓ ÔÏ˘‰·ÎÙ˘Ï›· (72,3%). H ·ıÔÁ¤ÓÂÈ· ÙˆÓ ·ÓˆÌ·ÏÈÒÓ ·˘ÙÒÓ ·Ú·Ì¤ÓÂÈ ¿ÁÓˆÛÙË. √ ˘ÔÁÔÓ·‰ÈÛÌfi˜ ÛÙÔ˘˜ ¿ÚÚÂÓ˜ ·Ô‰›‰ÂÙ·È Û ·ÓˆÌ·Ï›· ÙˆÓ ÎÚÔÛÛÒÓ ÙÔ˘ ˘Ôı·Ï¿ÌÔ˘ Î·È Ù˘ ˘fiÊ˘Û˘ ‹ Û ÚˆÙÔ·ı‹ ÁÔÓ·‰È΋ ‰˘ÛÁÂÓÂÛ›·, ÂÍ·ÈÙ›·˜ ÙˆÓ ÂÏ·Ùو̷ÙÈÎÒÓ ÎÚÔÛÛÒÓ ÙˆÓ Î˘ÙÙ¿ÚˆÓ ÙÔ˘ ÁÂÓÓËÙÈÎÔ‡ Û˘ÛÙ‹Ì·ÙÔ˜ (29). ∞ӷʤÚÂÙ·È fiÙÈ fiÏÔÈ Û¯Â‰fiÓ ÔÈ ¿ÚÚÂÓ˜ ·ÛıÂÓ›˜ ·ÚÔ˘ÛÈ¿˙Ô˘Ó ˘ÔÁÔÓ·‰ÈÛÌfi ÛÙËÓ ÂÓ‹ÏÈÎË ˙ˆ‹. ∫Ú˘„ÔÚ¯›· ·Ó¢ڛÛÎÂÙ·È ÛÙÔ 13% ÙˆÓ ÂÚÈÙÒÛÂˆÓ (1), ÂÓÒ ÛÙË ÌÂϤÙË Ì·˜ ¤Êı·Û ÙÔ 55,5%. √È Á˘Ó·›Î˜ ¤¯Ô˘Ó Û˘Ó‹ıˆ˜ ÚÔ‚Ï‹Ì·Ù· ÂÌÌ‹ÓÔ˘ Ú‡Û˘, fiˆ˜ Ë ·ÛıÂÓ‹˜ Ì·˜ ¡Ô 8, ·ÏÏ¿ Î·È ·Ó·ÙÔÌÈΤ˜ ·ÓˆÌ·Ï›Â˜ ÙˆÓ ¤Ûˆ ÁÂÓÓËÙÈÎÒÓ ÔÚÁ¿ÓˆÓ. ¶·ÚÔ˘ÛÈ¿˙Ô˘Ó ¿ÓÙˆ˜ Ï›ÁÔ Î·Ï‡ÙÂÚ· ÔÛÔÛÙ¿ ÁÔÓÈÌfiÙËÙ·˜ (2,7%) (1). ∏ ÓÂÊÚÈ΋ ‰˘ÛÏÂÈÙÔ˘ÚÁ›· ˘ԉȷÁÈÁÓÒÛÎÂÙ·È. ¢È¿ÊÔÚ˜ ÌÂϤÙ˜ ¤‰ÂÈÍ·Ó fiÙÈ Ë Û˘¯ÓfiÙËÙ¿ Ù˘ ·Ó¤Ú¯ÂÙ·È Û ÔÛÔÛÙfi 24%-46% (1) Î·È ÌfiÏȘ ÙÂÏÂ˘Ù·›· ıˆڋıËΠ̛˙ÔÓ ‰È·ÁÓˆÛÙÈÎfi ÎÚÈÙ‹ÚÈÔ ÙÔ˘ BBS. ¶Ú¿ÁÌ·ÙÈ, Î·È ÛÙË ‰È΋ Ì·˜ ÌÂϤÙË, ÌfiÓÔ Ô ·ÛıÂÓ‹˜ ¡Ô 1 ·ÚÔ˘Û›·Û ÙÂÎÌËÚȈ̤ÓË ÓÂÊÚÈ΋ ‰˘ÛÏÂÈÙÔ˘ÚÁ›·. ∫Ú›ÓÂÙ·È ÏÔÈfiÓ ÛÎfiÈÌÔ fiÏÔÈ ÔÈ BBS ·ÛıÂÓ›˜ Ó· ˘Ô‚¿ÏÏÔÓÙ·È Û ·ÂÈÎÔÓÈÛÙÈÎfi ¤ÏÂÁ¯Ô ÙÔ˘ Ô˘ÚÔÔÈËÙÈÎÔ‡ ÁÈ· ‰ÔÌÈΤ˜ Î·È ÏÂÈÙÔ˘ÚÁÈΤ˜

Pediatri May-Jun 08

23-05-08

15:57

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ªÂϤÙË ·È‰ÈÒÓ Ì ۇӉÚÔÌÔ Bardet-Biedl

·ÓˆÌ·Ï›Â˜ ÙˆÓ ÓÂÊÚÒÓ. √È ·ÓˆÌ·Ï›Â˜ ·˘Ù¤˜ ·Ô‰›‰ÔÓÙ·È Û ‚Ï¿‚˜ ÙˆÓ ÌÔÚÈ·ÎÒÓ Ô‰ÒÓ Ô˘ ηıÔÚ›˙Ô˘Ó ÙËÓ ÔÏÈÎfiÙËÙ· ÙˆÓ Î˘ÙÙ¿ÚˆÓ ÙˆÓ ÛˆÏËÓ·Ú›ˆÓ (PCP pathways) Î·È ÙË ÌÂÙ·ÊÔÚ¿ Ô˘ÛÈÒÓ Ì¤Ûˆ ÙˆÓ ÎÚÔÛÛÒÓ ÙÔ˘˜ (IFT ÌÂÙ·ÊÔÚ¿) (29). ∞fi ‰È¿ÊÔÚ˜ ÌÂϤÙ˜ ·Ó·Ê¤ÚÂÙ·È fiÙÈ Ù· ÁÔÓ›‰È· µµS4, 6, 7 Î·È 8 ÂÌϤÎÔÓÙ·È ÛÙËÓ ·ÈÙÈÔÏÔÁ›· ·˘ÙÒÓ ÙˆÓ ‚Ï·‚ÒÓ (2). ™‡Ìʈӷ Ì ÙË ‚È‚ÏÈÔÁÚ·Ê›·, οÔÈÔ˘ ‚·ıÌÔ‡ ·Ó·Ù˘Íȷ΋ ηı˘ÛÙ¤ÚËÛË ·ÚÔ˘ÛÈ¿˙ÂÈ ÂÚ›Ô˘ ÙÔ 78-86% ÙˆÓ ·ÛıÂÓÒÓ (1). ∆Ô 50% ¤¯ÂÈ Ì¤ÙÚÈ· ηı˘ÛÙ¤ÚËÛË, ΢ڛˆ˜ ‰È·Ù·Ú·¯¤˜ ÏfiÁÔ˘, Ì·ıËÛȷΤ˜ ‰˘ÛÎÔϛ˜ Î·È Î·ı˘ÛÙ¤ÚËÛË ¤Ó·Ú͢ ‚¿‰ÈÛ˘ (1). ∆· Â˘Ú‹Ì·Ù· Ù˘ ·ÚÔ‡Û·˜ ÌÂϤÙ˘ Û˘Ì‚·‰›˙Ô˘Ó Ì ٷ ‚È‚ÏÈÔÁÚ·ÊÈο ‰Â‰Ô̤ӷ, ηıÒ˜ 63,4% ÙˆÓ ·È‰ÈÒÓ Â›¯Â οÔÈÔ Úfi‚ÏËÌ·, ·ÏÏ¿ ÌfiÓÔ ¤Ó· ·È‰› ÛÔ‚·Ú‹ ÓÂ˘Ì·ÙÈ΋ ηı˘ÛÙ¤ÚËÛË. ∏ „˘¯ÔÎÈÓËÙÈ΋ ηı˘ÛÙ¤ÚËÛË ÌÔÚ› Ó· Â›Ó·È ‰Â˘ÙÂÚÔÁÂÓ‹˜, ˆ˜ ·ÔÙ¤ÏÂÛÌ· Ù˘ ÚÔ‚ÏËÌ·ÙÈ΋˜ fiÚ·Û˘ Î·È ›Ûˆ˜ Ù˘ ‚·ÚËÎÔ˝·˜ Ô˘ ÔÚÈṲ̂ÓÔÈ ·ÛıÂÓ›˜ ·ÚÔ˘ÛÈ¿˙Ô˘Ó. øÛÙfiÛÔ, οÔÈÔÈ ÂÚ¢ÓËÙ¤˜ ıˆÚÔ‡Ó ÙËÓ æ∫∫ ÚˆÙÔ·ı‹, ηıÒ˜ ¤¯Ô˘Ó ·Ó·ÁÓˆÚÈÛı› ‚Ï¿‚˜ Û ÎÚÔÛÛˆÙ¿ ·ÙÙ·Ú· ÙÔ˘ ∫¡™, fiˆ˜ ÁÈ· ·Ú¿‰ÂÈÁÌ· ÛÙ· ÂÂÓ‰˘Ì·ÙÈο ·ÙÙ·Ú· ÙˆÓ ÎÔÈÏÈÒÓ ÙÔ˘ ÂÁÎÂÊ¿ÏÔ˘ (2). ∏ ‰È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË ÙÔ˘ BBS Ú¤ÂÈ Ó· Á›ÓÂÙ·È Î·È Û ¿ÏÏ· Û‡Ó‰ÚÔÌ· Ì ·¯˘Û·ÚΛ· Î·È Î˘Ú›ˆ˜ ÛÙÔ ÈÔ Û˘¯Ófi Û‡Ó‰ÚÔÌÔ Prader-Willi, ÛÙÔ ÔÔ›Ô Í¯ˆÚ›˙ÂÈ Ë ÓÂÔÁÓÈ΋ ˘ÔÙÔÓ›· Î·È Ù· ÂȉÈο ÌÔÚÊÔÏÔÁÈο ¯·Ú·ÎÙËÚÈÛÙÈο. ∆· Û‡Ó‰ÚÔÌ· Alström, MORM (Mental retardation, Obesity, Retinal dystrophy, Micropenis) Î·È Meckel Î·È Ê˘ÛÈο ÙÔ ·ÎfiÌË ÈÔ Û¿ÓÈÔ Laurence-Moon ·ÚÔ˘ÛÈ¿˙Ô˘Ó ÌÂÁ¿ÏË Ê·ÈÓÔÙ˘È΋ ÂÈÎ¿Ï˘„Ë Ì ÙÔ BBS (2,20,30). T· Û‡Ó‰ÚÔÌ· Cohen, Carpenter Î·È Type II Biemond ·ÚÔ˘ÛÈ¿˙Ô˘Ó Û˘ÁÎÂÎÚÈ̤ӷ ÌÔÚÊÔÏÔÁÈο ¯·Ú·ÎÙËÚÈÛÙÈο. ∆¤ÏÔ˜, ȉÈÔÌÔÚÊ›· ·ÚÔ˘ÛÈ¿˙ÂÈ ÙÔ Û‡Ó‰ÚÔÌÔ Mc Kusick-Kauffmann, ÙÔ ÔÔ›Ô ÔÊ›ÏÂÙ·È Û ÌÂÙ·ÏÏ¿ÍÂȘ ÙÔ˘ µµS6 ÁÔÓȉ›Ô˘ Î·È ¯·Ú·ÎÙËÚ›˙ÂÙ·È ·fi Û˘ÁÁÂÓ‹ ηډÈÔ¿ıÂÈ· Î·È ˘‰ÚÔÌËÙÚfiÎÔÏÔ (2,24). ™˘ÌÂÚ·ÛÌ·ÙÈο, Ë Ï‹Ú˘ ηٷÓfiËÛË ÙÔ˘ Ê·ÈÓÔÙ‡Ô˘ ÙÔ˘ BBS Â›Ó·È ÛËÌ·ÓÙÈ΋ ÁÈ· ÙË ‰È¿ÁÓˆÛË, ÙË ÛˆÛÙ‹ ·Ú·ÎÔÏÔ‡ıËÛË (follow-up), ÙËÓ ÚfiÏË„Ë ÙˆÓ ÂÈÏÔÎÒÓ Î·È ÙË ÁÂÓÂÙÈ΋ Û˘Ì‚Ô˘Ï¢ÙÈ΋ ÙˆÓ ÔÈÎÔÁÂÓÂÈÒÓ ÙÔ˘˜. ŒÌÊ·ÛË Ú¤ÂÈ Ó· ‰Ôı› ÛÙË ‰È¿ÁÓˆÛË ‚¿ÛÂÈ ÎÚÈÙËÚ›ˆÓ Î·È ÙËÓ ·Ó·ÁÓÒÚÈÛË ÂÈÏÔÎÒÓ, fiˆ˜ ÔÈ ÓÂÊÚÈΤ˜ ·ÓˆÌ·Ï›Â˜, Ë ‚·ÚËÎÔ˝· Î·È ¿ÏϘ ‰Â˘ÙÂÚ‡ԢÛ˜ ‰È·Ù·Ú·¯¤˜, ÔÈ Ôԛ˜ ˘ԉȷÁÈÁÓÒÛÎÔÓÙ·È (¶›Ó·Î·˜ 1). √ ÛˆÛÙfi˜ ·Ú¯ÈÎfi˜ ¤ÏÂÁ¯Ô˜ Î·È Ë ÛˆÛÙ‹ ·Ú·ÎÔÏÔ‡ıËÛË ÙˆÓ ·ÛıÂÓÒÓ Ì BBS Û˘Ì‚¿ÏÏÔ˘Ó ÚÔ˜ ·˘Ù‹Ó ÙËÓ Î·Ù‡ı˘ÓÛË (¶›Ó·Î·˜ 3). ¶ÚÔ˜ ÙÔ ·ÚfiÓ, Ë ‰È¿ÁÓˆÛË ·Ú·Ì¤ÓÂÈ ÎÏÈÓÈ΋ ÂÍ·ÈÙ›·˜ Ù˘ ÔχÏÔ΢ ÁÂÓÂÙÈ΋˜ ‚¿Û˘ Ù˘ ÓfiÛÔ˘. ∏ Û˘Û¯¤ÙÈÛË ÁÔÓÔÙ‡Ô˘-Ê·ÈÓÔÙ‡Ô˘ ˆ˜ ÂÎ ÙÔ‡ÙÔ˘ ·ÚÔ˘ÛÈ¿˙ÂÈ ÌÂÁ¿Ï˜ ‰˘ÛÎÔϛ˜.

∏ ÂÓ‰Âϯ‹˜ fï˜ ÌÂϤÙË Û˘Ó‰ÚfïÓ, fiˆ˜ ÙÔ BBS, Û ÌÔÚÈ·Îfi, ÁÔÓȉȷÎfi Î·È ÎÏÈÓÈÎfi Â›Â‰Ô ·Ó·Ì¤ÓÂÙ·È Ó· ‰ÒÛÂÈ ÏËÚÔÊÔڛ˜ ÁÈ· ÈÔ ÎÔÈÓ¤˜, ·ÏÏ¿ ·ÈÙÈÔÏÔÁÈο ÔÏ˘Û‡ÓıÂÙ˜ ·ı‹ÛÂȘ, fiˆ˜ Ë ·¯˘Û·ÚΛ·, Ô ‰È·‚‹Ù˘ Î·È Ë ˘¤ÚÙ·ÛË.

µÈ‚ÏÈÔÁÚ·Ê›· 1. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999;36:437-446.

2. Blacque OE, Leroux MR. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell Mol Life Sci 2006;63:2145-2161.

3. Beales PL, Warner AM, Hitma GA, Thakker R, Flinter FA. Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. J Med Genet 1997;34:92-98.

4. Farag TI, Teebi AS. High incidence of Bardet-Biedl syndrome among the Bedouin. Clin Genet 1989;36:463-464.

5. Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, et al. Clinical and genetic epidemiology of BardetBiedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A 2005;132: 352-360.

6. Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet 2000;26:67-70.

7. Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet 2001;10:865-874.

8. Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, et al. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet 2001;28:188-191.

9. Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano J, L et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet 2006;38:521-524.

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11. Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, et al. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian BardetBiedl syndrome. Am J Hum Genet 2003;72:1187-1199.

12. Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001;293: 2256-2259.

13. Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 2003;425:628633.

14. Avidor-Reiss T, Maer AM, Koundakjian E, Polyanovsky A, Keil T, Subramaniam S, et al. Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis. Cell 2004;117:527-539.

15. Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, et al. The NPHP1 gene deletion associated ¶·È‰È·ÙÚÈ΋ 2008;71:224-230

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19. Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, et al. Identification of a novel BBS Gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

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20. Blacque OE, Reardon MJ, Li C, McCarthy J, Mahjoub MR, Ansley SJ, et al. Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev 2004;18:1630-1642.

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ler DJ, et al. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet 2003;12:1651-1659.

24. Katsanis N, Lupski JR, Beales PL. Exploring the molecular basis of Bardet-Biedl syndrome. Hum Mol Genet 2001;10: 2293-2299.

25. Hidaka K, Ashizawa N, Endoh H, Watanabe M, Fukumoto S. Fine structure of the cilia in the pancreatic duct of WBN/Kob rat. Int J Pancreatol 1995;18:207-213.

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29. Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, et al. Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci USA 2004;101:16588-16593.

30. Hampshire DJ, Ayub M, Springell K, Roberts E, Jafri H, Rashid Y, et al. MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34. Eur J Hum Genet 2006;14:543-548.

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¡ÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË ÛÙ· ·È‰È¿ M. B. ∞ÓıÚ·ÎfiÔ˘ÏÔ˜1, K. N. ¶Ú›ÊÙ˘2 ¶ÂÚ›ÏË„Ë: ∏ ÓÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË (ÂÈÓÂÊÚ›ÓË) ¯ÚËÛÈÌÔÔÈÂ›Ù·È ÛÙËÓ ·È‰È·ÙÚÈ΋ Ú¿ÍË ÁÈ· ÙËÓ ·ÓÙÈÌÂÙÒÈÛË Ù˘ ÔÍ›·˜ Ï·Ú˘ÁÁÔÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ·˜ Î·È Ù˘ ÔÍ›·˜ ‚ÚÔÁ¯ÈÔÏ›Ùȉ·˜. ∏ ÓÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË ·ÔÙÂÏ› ÙË ÌfiÓË ıÂÚ·¢ÙÈ΋ ·Ú¤Ì‚·ÛË Ì ·ԉ‰ÂÈÁ̤ÓË, ¿ÌÂÛË, ¢ÂÚÁÂÙÈ΋ ‰Ú¿ÛË ÛÙÔ ˘ÔÁψÙÙȉÈÎfi Ô›‰ËÌ· Ù˘ ÔÍ›·˜ Ï·Ú˘ÁÁÔÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ·˜. ∏ Ù·¯Â›· ‰Ú¿ÛË ÙÔ˘ Ê·ÚÌ¿ÎÔ˘, ·ÚfiÙÈ ‰ÂÓ ÂËÚ¿˙ÂÈ ÙËÓ ÂͤÏÈÍË Ù˘ ÊÏÂÁÌÔÓ‹˜, ·Ó·ÎÔ˘Ê›˙ÂÈ ‚Ú·¯˘ÚfiıÂÛÌ· ÙËÓ ·Ó·Ó¢ÛÙÈ΋ ‰˘Û¯¤ÚÂÈ· ÙÔ˘ ·ÛıÂÓÔ‡˜ Î·È ‰›ÓÂÈ ÙÔ ¯ÚfiÓÔ Ó· ÂΉËψı› Ë ·ÓÙÈÊÏÂÁÌÔÓ҉˘ ‰Ú¿ÛË ÙˆÓ Û˘Á¯ÔÚËÁÔ‡ÌÂÓˆÓ ÎÔÚÙÈÎÔÛÙÂÚÔÂȉÒÓ. ™ÙËÓ ∂˘ÚÒË ¯ÚËÛÈÌÔÔÈÂ›Ù·È ÙÔ L-ÈÛÔÌÂÚ¤˜ Ù˘ ·‰ÚÂÓ·Ï›Ó˘ (‰È¿Ï˘Ì· 1:1000). ∏ ÚÔÙÂÈÓfiÌÂÓË ‰fiÛË Â›Ó·È 2,5 ml ÁÈ· ‚Ú¤ÊË Î·È ·È‰È¿ ÚÔÛ¯ÔÏÈ΋˜ ËÏÈΛ·˜ Î·È 5 ml ÁÈ· ÌÂÁ·Ï‡ÙÂÚ· ·È‰È¿. ∞·ÈÙÂ›Ù·È ÚÔÛÔ¯‹ ÛÙË Û˘¯ÓfiÙËÙ· ¯ÔÚ‹ÁËÛ˘ (max ·Ó¿ 1-2 ÒÚ˜) Î·È ·Ú·ÎÔÏÔ‡ıËÛË ÙÔ˘ ·ÛıÂÓÔ‡˜ Â› 3-4 ÒÚ˜, ÏfiÁˆ Èı·Ó‹˜ Âȉ›ӈÛ˘ (rebound) fiÙ·Ó ·Ú¤ÏıÂÈ Ë ‰Ú¿ÛË ÙÔ˘ Ê·ÚÌ¿ÎÔ˘. ∏ ÚfiÏÔ˜ ÙˆÓ ÂÈÛÓÂfiÌÂÓˆÓ ‚ÚÔÁ¯Ô‰È·ÛÙ·ÏÙÈÎÒÓ ÛÙËÓ ·ÓÙÈÌÂÙÒÈÛË Ù˘ ÔÍ›·˜ ‚ÚÔÁ¯ÈÔÏ›Ùȉ·˜ ·ÔÙÂÏ› ·ÌÊÈÏÂÁfiÌÂÓÔ ˙‹ÙËÌ·. ¡ÂfiÙÂÚ˜ ÌÂϤÙ˜ Î·È ÌÂÙ·-·Ó·Ï‡ÛÂȘ ‰ÂÓ ÂȂ‚·ÈÒÓÔ˘Ó ÙËÓ ·ÔÙÂÏÂÛÌ·ÙÈÎfiÙËÙ¿ ÙÔ˘˜ ÛÙË ‚ÂÏÙ›ˆÛË ÙˆÓ ÎÏÈÓÈÎÒÓ ‰ÂÈÎÙÒÓ, ÙÔ˘ ÎÔÚÂÛÌÔ‡ Ù˘ ·ÈÌÔÛÊ·ÈÚ›Ó˘ Û Ô͢ÁfiÓÔ Î·È Ù˘ ‰È¿ÚÎÂÈ·˜ ÓÔÛËÏ›·˜. §fiÁˆ Ù˘ Û˘Ó‰˘·Ṳ̂Ó˘ ·- Î·È ‚-·‰ÚÂÓÂÚÁÈ΋˜ ‰Ú¿Û˘ Ù˘, Ë ÓÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË ¤¯ÂÈ ÚÔÙ·ı› ˆ˜ ÙÔ È‰·ÓÈÎfi ‚ÚÔÁ¯Ô‰È·ÛÙ·ÏÙÈÎfi/·ÁÁÂÈÔÛ˘Û·ÛÙÈÎfi Ê¿ÚÌ·ÎÔ ÁÈ· ÙËÓ ·ÓÙÈÌÂÙÒÈÛË Ù˘ ·ıÔÊ˘ÛÈÔÏÔÁ›·˜ Ù˘ ÓfiÛÔ˘. ¶·ÚfiÙÈ ÔÚÈṲ̂Ó˜ ÌÂϤÙ˜ ¤¯Ô˘Ó ‰Â›ÍÂÈ ıÂÙÈο ·ÔÙÂϤÛÌ·Ù·, ÓÂfiÙÂÚ˜ ÌÂϤÙ˜ Î·È Û˘ÛÙËÌ·ÙÈΤ˜ ·Ó·ÛÎÔ‹ÛÂȘ ‰ÂÓ ÂȂ‚·ÈÒÓÔ˘Ó ÙÔ ÚfiÏÔ Ù˘ ÛÙË ıÂÚ·›· Ù˘ ÔÍ›·˜ ‚ÚÔÁ¯ÈÔÏ›Ùȉ·˜. ™˘ÓÈÛÙ¿Ù·È Ë ‰ÔÎÈÌ·ÛÙÈ΋ ¯ÔÚ‹ÁËÛË ÓÂÊÂÏÔÔÈË̤Ó˘ L-·‰ÚÂÓ·Ï›Ó˘ (‰È¿Ï˘Ì· 1:1000) Û ‰fiÛË 2,5 ml ÛÙ· ÛÔ‚·ÚfiÙÂÚ· ÂÚÈÛÙ·ÙÈο Î·È Ë Â·Ó¿ÏË„‹ Ù˘, ÂÊfiÛÔÓ ÎÚÈı› ·ÔÙÂÏÂÛÌ·ÙÈ΋, ÌÂÙ¿ ·fi ÚÔÛÂÎÙÈ΋ ÎÏÈÓÈ΋ ·ÍÈÔÏfiÁËÛË.

1 ¶·È‰ÔÓ¢ÌÔÓÔÏÔÁÈ΋ ªÔÓ¿‰·, ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋ ¶·ÓÂÈÛÙËÌ›Ô˘ ¶·ÙÚÒÓ 2 ∞ÏÏÂÚÁÈÔÏÔÁÈÎfi ∆Ì‹Ì·, ¡ÔÛÔÎÔÌÂ›Ô ¶·›‰ˆÓ ¶ÂÓÙ¤Ï˘ AÏÏËÏÔÁÚ·Ê›·: ªÈ¯¿Ï˘ ∞ÓıÚ·ÎfiÔ˘ÏÔ˜ manthra@otenet.gr ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋ ¶·ÓÂÈÛÙËÌ›Ô˘ ¶·ÙÚÒÓ T.K. 265 04, ƒ›Ô

§¤ÍÂȘ ÎÏÂȉȿ: ¡ÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË, ÔÍ›· ‚ÚÔÁ¯ÈÔÏ›Ùȉ·, ÔÍ›· Ï·Ú˘ÁÁÔÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ·.

Nebulised adrenaline in children M.B. Anthracopoulos1, K.N. Priftis2 Abstract: Nebulised adrenaline (epinephrine) is used in paediatric practice in the management of acute laryngotracheobronchitis and acute bronchiolitis. Nebulised adrenaline constitutes the only therapeutic intervention of proven immediate efficacy in the subglottic oedema of acute laryngotracheobronchitis.

Although it has no anti-inflammatory properties, its immediate pharmacological action helps to improve respiratory distress in the short term while co-administered corticosteroids begin to exert their antiinflammatory effects. The L-isomer of adrenaline (1:1000 solution) is used in Europe in a 2.5 ml dose in infants and preschool children and a 5 ml dose in older children. The frequency of administration should not exceed 1-2 hourly, and the patient should be monitored carefully after drug administration since rebound oedema may occur when the action of the drug wears off. The use of inhaled bronchodilators in acute bronchiolitis is a highly debated issue. Recent studies and meta-analyses fail to confirm their role in the improvement of clinical scores, haemoglobin oxygen saturation and duration of hospitalization.

Due to its combined ·- and ‚-adrenergic actions, nebulised adrenaline has been proposed as the ideal bronchodilatory/angioconstrictive drug for counteracting the pathophysiological effects of the disease.

Although some studies show beneficial effects, more recent data and systematic reviews do not support the role of nebulised adrenaline in the management of acute bronchiolitis. However, in moderate and severe cases, a trial of 2.5 ml of nebulised L-epinephrine (solution 1:1000) is recommended, which can be repeated as needed if it is found to be effective after careful clinical assessment.

1 Paediatric Pneumonology Unit, Department of Paediatrics, University of Patras 2 Department of Allergology, Children’s General Hospital of Penteli Correspondence: ªichalis Anthracopoulos manthra@otenet.gr Paediatric Pneumonology Unit, Department of Paediatrics, University of Patras 265 04, Rio, Patras

Key words: Acute bronchiolitis, acute laryngotracheobronchitis, nebulised adrenaline.

∏ ÓÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË (ÂÈÓÂÊÚ›ÓË) ¯ÚËÛÈÌÔÔÈÂ›Ù·È ÛÙËÓ ·È‰È·ÙÚÈ΋ Ú¿ÍË ÛÙËÓ ÔÍ›· Ï·Ú˘ÁÁÔÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ· (ÈÔÁÂÓ¤˜ croup) Î·È ÛÙËÓ ÔÍ›· ‚ÚÔÁ¯ÈÔÏ›Ùȉ· ÙˆÓ ‚ÚÂ-

ÊÒÓ. ™ÙËÓ ·ÚÔ‡Û·, Û‡ÓÙÔÌË ·Ó·ÛÎfiËÛË ·ÚÔ˘ÛÈ¿˙ÂÙ·È Ë ÙÚ¤¯Ô˘Û· ·ÓÙ›ÏË„Ë ÁÈ· ÙË ¯Ú‹ÛË Ù˘ ÛÙȘ ‰‡Ô ·˘Ù¤˜ Û˘Ó‹ıÂȘ Â›ÁÔ˘Û˜ ηٷÛÙ¿ÛÂȘ, fiˆ˜ ·˘Ù‹ ÚÔ·ÙÂÈ ·fi ÙȘ ̤¯ÚÈ ¶·È‰È·ÙÚÈ΋ 2008;71:231-234

Pediatri May-Jun 08

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M. B. ∞ÓıÚ·ÎfiÔ˘ÏÔ˜, K. N. ¶Ú›ÊÙ˘

Û‹ÌÂÚ· ‰È·ı¤ÛÈ̘ ÌÂϤÙ˜. ∏ ¯Ú‹ÛË ˘Ô‰fiÚÈ·˜ ·‰ÚÂÓ·Ï›Ó˘ ÛÙÔ ·ÁÁÂÈÔÓÂ˘ÚˆÙÈÎfi Ô›‰ËÌ· ÙÔ˘ Ï¿Ú˘ÁÁ· Î·È Ë Û˘ÛÙËÌ·ÙÈ΋ ‹ ÂÓ‰ÔÙÚ·¯Âȷ΋ ¯ÔÚ‹ÁËÛ‹ Ù˘ ÛÙËÓ Î·Ú‰ÈÔ·Ó·Ó¢ÛÙÈ΋ ·Ó·˙ˆÔÁfiÓËÛË ‰ÂÓ ·ÔÙÂÏÔ‡Ó ·ÓÙÈΛÌÂÓÔ ·˘Ù‹˜ Ù˘ ·ÚÔ˘Û›·Û˘.

¡ÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË ÛÙËÓ ÔÍ›· Ï·Ú˘ÁÁÔÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ· ∫·Ù¿ ÙȘ ‰ÂηÂٛ˜ ÙÔ˘ 1960 Î·È ÙÔ˘ 1970, Ë ¯ÔÚ‹ÁËÛË Ú·ÎÂÌÈ΋˜ ÂÈÓÂÊÚ›Ó˘ (Ì›ÁÌ· ›Û˘ ÔÛfiÙËÙ·˜ ‰Ú·ÛÙÈÎÔ‡ L- Î·È ÌË ‰Ú·ÛÙÈÎÔ‡ D-ÈÛÔÌÂÚÔ‡˜), ÌÂ Û˘Û΢‹ ‰È·Ï›Ô˘Û·˜ ıÂÙÈ΋˜ ›ÂÛ˘ (intermittent positive pressure breathing, IPPB), ·ÓÙÈη٤ÛÙËÛ ÚÔԉ¢ÙÈο ÛÙȘ ∏¶∞ ÙË ‰È·ÛˆÏ‹ÓˆÛË Î·È ÙËÓ ÙÚ·¯ÂÈÔÛÙÔÌ›· ÛÙËÓ ·ÓÙÈÌÂÙÒÈÛË ÙÔ˘ ÛÔ‚·ÚÔ‡ ÈÔÁÂÓÔ‡˜ croup (ÔÍ›·˜ Ï·Ú˘ÁÁÔÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ·˜). ∞ÚÁfiÙÂÚ·, ÛÙË ‰ÂηÂÙ›· ÙÔ˘ 1980, Ë ¯Ú‹ÛË Ù˘ IPPB ·ÓÙÈηٷÛÙ¿ıËΠ·fi ÙË ¯ÔÚ‹ÁËÛË ÓÂÊÂÏÔÔÈË̤Ó˘ Ú·ÎÂÌÈ΋˜ ÂÈÓÂÊÚ›Ó˘ (‰È¿Ï˘Ì· 2,25% ‹ 2%), Ô˘ ¯ÚËÛÈÌÔÔÈÂ›Ù·È Ì¤¯ÚÈ Û‹ÌÂÚ· ÛÙË ¯ÒÚ· ·˘Ù‹ ÁÈ· ÙËÓ ·ÓÙÈÌÂÙÒÈÛË ÙˆÓ ÛÔ‚·ÚfiÙÂÚˆÓ ÂÚÈÛÙ·ÙÈÎÒÓ (1-4). ∏ ¯ÚËÛÈÌÔÔ›ËÛË Ù˘ ÓÂÊÂÏÔÔÈË̤Ó˘ ·‰ÚÂÓ·Ï›Ó˘ ÛÙËÓ ÔÍ›· Ï·Ú˘ÁÁÔÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ· ‚·Û›˙ÂÙ·È ÛÙËÓ ¿ÌÂÛË Â˘ÂÚÁÂÙÈ΋ ‰Ú¿ÛË ÙÔ˘ Ê·ÚÌ¿ÎÔ˘ ÛÙËÓ Î‡ÚÈ· ‚Ï¿‚Ë Ô˘ ÚÔηÏ› Ë ÈÔÁÂÓ‹˜ Ïԛ̈ÍË, ‰ËÏ·‰‹ ÛÙÔ ˘ÔÁψÙÙȉÈÎfi Ô›‰ËÌ·. ∏ ‰Ú¿ÛË ·˘Ù‹ Û˘Ó›ÛÙ·Ù·È ÛÙË Û‡Û·ÛË ÙˆÓ ÚÔ-ÙÚȯÔÂȉÈÎÒÓ ·ÚÙËÚÈÔÏ›ˆÓ Î·È ÙËÓ ÂÏ¿ÙÙˆÛË Ù˘ ÂÓ‰ÔÙÚȯÔÂȉÈ΋˜ ›ÂÛ˘, Ì ·ÔÙ¤ÏÂÛÌ· ÙËÓ Â·Ó·ÚÚfiÊËÛË ˘ÁÚÔ‡ ·fi ÙÔ ‰È¿ÌÂÛÔ ¯ÒÚÔ Î·È ÙÔÓ ÂÚÈÔÚÈÛÌfi ÙÔ˘ Ôȉ‹Ì·ÙÔ˜. ∏ Ù·¯Â›· ‰Ú¿ÛË ÙÔ˘ Ê·ÚÌ¿ÎÔ˘ ·Ó·ÎÔ˘Ê›˙ÂÈ ÙËÓ ·fiÊÚ·ÍË ÙÔ˘ ·ÂÚ·ÁˆÁÔ‡ Î·È ÂÏ·ÙÙÒÓÂÈ ÙÔ ¤ÚÁÔ Ù˘ ·Ó·ÓÔ‹˜. ∞Ó Î·È ‰ÂÓ Ê·›ÓÂÙ·È Ó· Âȉڿ ÛÙËÓ ÂͤÏÈÍË Ù˘ ÊÏÂÁÌÔÓ‹˜, ‰›ÓÂÈ ÙËÓ Â˘Î·ÈÚ›· Ó· ÂΉËψı› Ë ·ÓÙÈÊÏÂÁÌÔÓ҉˘ ‰Ú¿ÛË ÙˆÓ Û˘Á¯ÔÚËÁÔ‡ÌÂÓˆÓ ÎÔÚÙÈÎÔÛÙÂÚÔÂȉÒÓ, ÌÂÈÒÓÔÓÙ·˜ ÙËÓ Èı·ÓfiÙËÙ· ÂÈÛ·ÁˆÁ‹˜ ÛÙÔ ÓÔÛÔÎÔÌÂ›Ô Î·È ‰È·ÛˆÏ‹ÓˆÛ˘ ÙÔ˘ ·ÛıÂÓÔ‡˜, ηıÒ˜ Î·È ÙË ‰È¿ÚÎÂÈ· Ù˘ ÓÔÛËÏ›·˜ (1,4,5). ™ËÌÂÈÒÓÂÙ·È fiÙÈ Ë ÓÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË ·ÔÙÂÏ› ÙË ÌfiÓË ıÂÚ·¢ÙÈ΋ ·Ú¤Ì‚·ÛË Ô˘ ·ԉ‰ÂÈÁ̤ӷ ¤¯ÂÈ ¿ÌÂÛË Â˘ÂÚÁÂÙÈ΋ ‰Ú¿ÛË ÛÙËÓ ÔÍ›· Ï·Ú˘ÁÁÔÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ·, ηıÒ˜ Ë ·ÔÙÂÏÂÛÌ·ÙÈÎfiÙËÙ· Ù˘ ‰Ú¿Û˘ ÙˆÓ „˘¯ÚÒÓ ˘‰Ú·ÙÌÒÓ ¤¯ÂÈ ·ÌÊÈÛ‚ËÙËı› (6-10). ∂Í¿ÏÏÔ˘, Ë ¯ÔÚ‹ÁËÛË „˘¯ÚÒÓ ˘‰Ú·ÙÌÒÓ Û ·È‰È¿ ÌÂ Û˘ÓÔ‰fi ÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ· Î·È ÚÔ¸¿Ú¯Ô˘Û· ‚ÚÔÁ¯ÔÛ‡Û·ÛË ÌÔÚ› Ó· Ô‰ËÁ‹ÛÂÈ Û Âȉ›ӈÛË Ù˘ ·Ó·Ó¢ÛÙÈ΋˜ ‰˘Û¯¤ÚÂÈ·˜ (5,11,12). ¶ÚfiÛÊ·ÙË ÌÂÙ··Ó¿Ï˘ÛË ÎÏÈÓÈÎÒÓ ÌÂÏÂÙÒÓ ‰ÂÓ ÂȂ‚·›ˆÛ ÙË ¯ÚËÛÈÌfiÙËÙ· ÙˆÓ „˘¯ÚÒÓ ˘‰Ú·ÙÌÒÓ ÛÙË ‚ÂÏÙ›ˆÛË ‰È·ÊfiÚˆÓ ÎÏÈÓÈÎÒÓ ‰ÂÈÎÙÒÓ ‚·Ú‡ÙËÙ·˜ Ù˘ ÔÍ›·˜ Ï·Ú˘ÁÁÔÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ·˜ (13).

Paediatriki 2008;71:231-234

∏ ÓÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË ¯ÚËÛÈÌÔÔÈÂ›Ù·È ÛÙÔ Ì¤ÙÚÈÔ (Â›ÌÔÓÔ˜ ÂÈÛÓ¢ÛÙÈÎfi˜ ÛÈÁÌfi˜ Î·È ÂÈÛÔÏΤ˜ Û ËÚÂÌ›· ÚÈÓ ·fi ÙË ¯ÔÚ‹ÁËÛË ÔÔÈ·Û‰‹ÔÙ ·ÁˆÁ‹˜) Î·È ÛÙÔ ÛÔ‚·Úfi croup (ÂÈϤÔÓ ÙÔ˘ ÛÈÁÌÔ‡ Î·È ÙˆÓ ÂÈÛÔÏÎÒÓ, ·ÓËÛ˘¯›·, ˆ¯ÚfiÙËÙ· ‹ ΢¿ÓˆÛË, Ù·¯˘Î·Ú‰›· Î·È ÛËÌ›· ÎfiˆÛ˘) (5). ™ÙËÓ ∂˘ÚÒË, fiÔ˘ ‰ÂÓ Î˘ÎÏÔÊÔÚ› Ë Ú·ÎÂÌÈ΋ ÌÔÚÊ‹ ÙÔ˘ Ê·ÚÌ¿ÎÔ˘, ¯ÚËÛÈÌÔÔÈÂ›Ù·È ÙÔ L-ÈÛÔÌÂÚ¤˜ Ù˘ ·‰ÚÂÓ·Ï›Ó˘ Ô˘ ¯ÔÚËÁÂ›Ù·È Û ‰ÔÛÔÏÔÁÈÎfi Û¯‹Ì· 2,5 ml ÙÔ˘ ‰È·Ï‡Ì·ÙÔ˜ 1:1000 (1 mg/ml) Û ·È‰È¿ ÚÔÛ¯ÔÏÈ΋˜ ËÏÈΛ·˜ Î·È 5 ml Û ÌÂÁ·Ï‡ÙÂÚ· ·È‰È¿ (5,14). ™˘Á¯ÔÚËÁÂ›Ù·È Û˘ÛÙËÌ·ÙÈο (per os ‹ ÂÓ‰ÔÌ˘˚ο) ‰ÂÍ·ÌÂı·˙fiÓË -Ë ÔÔ›· ÚÔÙÈÌ¿Ù·È ¤Ó·ÓÙÈ ÙˆÓ ÏÔÈÒÓ Û˘ÛÙËÌ·ÙÈÎÒÓ ÎÔÚÙÈÎÔÛÙÂÚÔÂȉÒÓ(15) ‹ ÓÂÊÂÏÔÔÈË̤ÓË ‚Ô˘‰ÂÛÔÓ›‰Ë ‹ Û˘Ó‰˘·ÛÌfi˜ ·˘ÙÒÓ (4,5,16,17). ∂Âȉ‹ ÙÔ ‰È¿Ï˘Ì· Ù˘ L-·‰ÚÂÓ·Ï›Ó˘ -Û ·ÓÙ›ıÂÛË Ì ÂΛÓÔ Ù˘ Ú·ÎÂÌÈ΋˜ ÂÈÓÂÊÚ›Ó˘- ÂÚȤ¯ÂÈ ÌÂÙ·‰ÈÛÔ˘ÏÊ›‰È·, ηıÒ˜ ¤¯ÂÈ ·Ú·Û΢·Ûı› ÁÈ· ˘Ô‰fiÚÈ·, ÂÓ‰ÔÌ˘˚΋ ‹ ÂÓ‰ÔÊϤ‚È· ¯ÔÚ‹ÁËÛË, Â›Ó·È ›Ûˆ˜ ÛÎfiÈÌË Ë ·Ú·›ˆÛ‹ ÙÔ˘ Ì 2-3 ml Ê˘ÛÈÔÏÔÁÈÎÔ‡ ÔÚÔ‡, ÚÔÎÂÈ̤ÓÔ˘ Ó· ÂÍÔ˘‰ÂÙÂÚˆı› Ë ÂÚÂıÈÛÙÈ΋ ‰Ú¿ÛË ÙÔ˘ ÂΉfi¯Ô˘ ÛÙÔ ‚ÚÔÁ¯ÈÎfi ‰¤Ó‰ÚÔ (5). ∏ ‰Ú¿ÛË Ù˘ ÂÈÛÓÂfiÌÂÓ˘ ·‰ÚÂÓ·Ï›Ó˘ ‰È·ÚΛ ÂÚ›Ô˘ 2 ÒÚ˜. ∂¿Ó Ô ·ÛıÂÓ‹˜ ‰ÂÓ ·ÓÙ·ÔÎÚÈı›, Û˘ÓÈÛÙ¿Ù·È ÂÈÛ·ÁˆÁ‹ ÛÙÔ ÓÔÛÔÎÔÌÂ›Ô Î·È Â·Ó¿ÏË„Ë Ù˘ ¯ÔÚ‹ÁËÛ˘. ∏ ‰È¤ÁÂÚÛË Î·È Ë Ù·¯˘Î·Ú‰›· Â›Ó·È Û˘ÓËıÈṲ̂Ó˜ ·ÓÂÈı‡ÌËÙ˜ ÂÓ¤ÚÁÂȘ ÙÔ˘ Ê·ÚÌ¿ÎÔ˘ Î·È Û ÂÚ›ÙˆÛË Â·Ó·Ï·Ì‚·ÓfiÌÂÓ˘ ¯ÔÚ‹ÁËÛ˘ (Â·Ó·¯ÔÚ‹ÁËÛË Û˘¯ÓfiÙÂÚ· ·fi 1-2 ÒÚ˜) ··ÈÙÂ›Ù·È ËÏÂÎÙÚÔηډÈÔÁÚ·ÊÈ΋ ·Ú·ÎÔÏÔ‡ıËÛË ÙÔ˘ ·ÛıÂÓÔ‡˜ (18). ∂ÊfiÛÔÓ ÙÔ ·È‰› ·ÓÙ·ÔÎÚÈı› ÈηÓÔÔÈËÙÈο ÛÙË ¯ÔÚ‹ÁËÛË Ù˘ ÚÒÙ˘ ‰fiÛ˘ ÓÂÊÂÏÔÔÈË̤Ó˘ ·‰ÚÂÓ·Ï›Ó˘, ÒÛÙ ӷ ·ÔηٷÛÙ·ı› Ô Ú˘ıÌfi˜ Ù˘ ·Ó·ÓÔ‹˜ Î·È Ó· ÂÍ·ÏÂÈÊıÔ‡Ó Ù· ÛËÌ›· Ù˘ ÂÚÁÒ‰Ô˘˜ ·Ó·ÓÔ‹˜, Î·È ¤¯ÂÈ ¯ÔÚËÁËı› ÎÔÚÙÈÎÔÛÙÂÚÔÂȉ¤˜ Û˘ÛÙËÌ·ÙÈο ‹ Ì ÓÂÊÂÏÔÔÈËÙ‹, ÌÔÚ› Ó· Û˘˙ËÙËı› Ë Â¿ÓÔ‰fi˜ ÙÔ˘ ÛÙÔ Û›ÙÈ ÌÂÙ¿ ·fi ·Ú·ÎÔÏÔ‡ıËÛË 3-4 ˆÚÒÓ ÚÔÎÂÈ̤ÓÔ˘ Ó· ·ÔÎÏÂÈÛı› Ó¤· Âȉ›ӈÛË. ∏ ÂΉ‹ÏˆÛË ÙÔ˘ Ê·ÈÓfiÌÂÓÔ˘ rebound ÂÚÌËÓ‡ÂÙ·È ·fi ÙË ‚ÈÔÏÔÁÈ΋ ‰Ú¿ÛË ÙÔ˘ Ê·ÚÌ¿ÎÔ˘ (1,4,5,17).

¡ÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË ÛÙËÓ ÔÍ›· ‚ÚÔÁ¯ÈÔÏ›Ùȉ· ∆Ô Ô͢ÁfiÓÔ Â›Ó·È Ë ÌfiÓË ıÂÚ·›· Ô˘ ·ԉ‰ÂÈÁ̤ӷ ‚ÂÏÙÈÒÓÂÈ ÙËÓ ˘ÔÍ·ÈÌ›· ÛÙËÓ ÔÍ›· ‚ÚÔÁ¯ÈÔÏ›Ùȉ· ÙˆÓ ‚ÚÂÊÒÓ. ∞fi ÙËÓ ¿ÏÏË ÌÂÚÈ¿, Ë ¯Ú‹ÛË ÙˆÓ ÂÈÛÓÂfiÌÂÓˆÓ ‚ÚÔÁ¯Ô‰È·ÛÙ·ÏÙÈÎÒÓ ·ÔÙÂÏ› Â› ‰ÂηÂٛ˜ ¤Ó· ·fi Ù· ϤÔÓ ·ÌÊÈÏÂÁfiÌÂÓ· ˙ËÙ‹Ì·Ù· Û fiÙÈ ·ÊÔÚ¿ ÙËÓ ·ÓÙÈÌÂÙÒÈÛË Ù˘ ÔÍ›·˜ ‚ÚÔÁ¯ÈÔÏ›Ùȉ·˜ (19-23). ∞ÚÎÂÙ¤˜ ·Ï·ÈfiÙÂÚ˜ ÌÂϤÙ˜, Û˘ÌÂÚÈÏ·Ì‚·ÓÔ̤Ó˘ ÌÈ·˜ ÌÂÙ·-·Ó¿Ï˘Û˘,

Pediatri May-Jun 08

23-05-08

15:57

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¡ÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË

›¯·Ó ‰Â›ÍÂÈ ‚Ú·¯˘ÚfiıÂÛÌË ‚ÂÏÙ›ˆÛË ÙˆÓ Û˘ÌÙˆÌ¿ÙˆÓ Ù˘ ÓfiÛÔ˘ (23). øÛÙfiÛÔ, ÓÂfiÙÂÚ˜ ÌÂϤÙ˜ Î·È ÌÂÙ·-·Ó·Ï‡ÛÂȘ ‰ÂÓ ÂȂ‚·ÈÒÓÔ˘Ó ÙËÓ ˘ÂÚÔ¯‹ ÙˆÓ ‚ÚÔÁ¯Ô‰È·ÛÙ·ÏÙÈÎÒÓ ¤Ó·ÓÙÈ ÙÔ˘ ÂÈÎÔÓÈÎÔ‡ Ê·ÚÌ¿ÎÔ˘ ÙfiÛÔ ÛÙË ‚ÂÏÙ›ˆÛË ÎÏÈÓÈÎÒÓ ‰ÂÈÎÙÒÓ fiÛÔ Î·È ÙÔ˘ ÎÔÚÂÛÌÔ‡ Ù˘ ·ÈÌÔÛÊ·ÈÚ›Ó˘ Û Ô͢ÁfiÓÔ (SaO2) (24-31). ™Â ÔÚÈṲ̂Ó˜ Ì¿ÏÈÛÙ· ÂÚÈÙÒÛÂȘ, Ù· Ê¿Ú̷η ·˘Ù¿ ÌÔÚÔ‡Ó Ó· ÂȉÂÈÓÒÛÔ˘Ó ÙËÓ Ó¢ÌÔÓÈ΋ ÏÂÈÙÔ˘ÚÁ›· ÙˆÓ ÌÈÎÚfiÙÂÚˆÓ È‰È·›ÙÂÚ· ‚ÚÂÊÒÓ (<6 ÌËÓÒÓ) Ì ÔÍ›· ‚ÚÔÁ¯ÈÔÏ›Ùȉ· (32-35). ∏ ÓÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË, ÏfiÁˆ Ù˘ Û˘Ó‰˘·Ṳ̂Ó˘ ·- Î·È ‚- ·‰ÚÂÓÂÚÁÈ΋˜ ‰Ú¿Û˘ Ù˘, ÚÔÙ¿ıËΠÁÈ· ÚÒÙË ÊÔÚ¿ ÚÈÓ ·fi 30 ¤ÙË ˆ˜ ÙÔ È‰·ÓÈÎfi ‚ÚÔÁ¯Ô‰È·ÛÙ·ÏÙÈÎfi/·ÁÁÂÈÔÛ˘Û·ÛÙÈÎfi Ê¿ÚÌ·ÎÔ ÁÈ· ÙËÓ ·ÓÙÈÌÂÙÒÈÛË Ù˘ ·ıÔÊ˘ÛÈÔÏÔÁ›·˜ Ù˘ ÓfiÛÔ˘ Ô˘ ¯·Ú·ÎÙËÚ›˙ÂÙ·È ÚˆÙ›ÛÙˆ˜ ·fi Ô›‰ËÌ· ÙÔ˘ ÙÔȯÒÌ·ÙÔ˜ ÙˆÓ ‚ÚÔÁ¯ÈÔÏ›ˆÓ (36). ¶Ú¿ÁÌ·ÙÈ, ÔÚÈṲ̂Ó˜ ÌÂϤÙ˜ ¤¯Ô˘Ó ‰Â›ÍÂÈ ˘ÂÚÔ¯‹ Ù˘ ÂÈÛÓÂfiÌÂÓ˘ ·‰ÚÂÓ·Ï›Ó˘ ¤Ó·ÓÙÈ Ù˘ Û·Ï‚Ô˘Ù·ÌfiÏ˘ Î·È ÙÔ˘ ÂÈÎÔÓÈÎÔ‡ Ê·ÚÌ¿ÎÔ˘ Û fiÙÈ ·ÊÔÚ¿ ÙË ‚Ú·¯˘ÚfiıÂÛÌË ‚ÂÏÙ›ˆÛË ÎÏÈÓÈÎÒÓ ‰ÂÈÎÙÒÓ Î·È/‹ Ù˘ Ó¢ÌÔÓÈ΋˜ ÏÂÈÙÔ˘ÚÁ›·˜ (37). øÛÙfiÛÔ, Û ۯÂÙÈο ÚfiÛÊ·ÙË Î·Ï¿ ۯ‰ȷṲ̂ÓË ÔÏ˘ÎÂÓÙÚÈ΋ ÌÂϤÙË, Ô˘ Û˘Ó¤ÎÚÈÓ ÙË ¯ÔÚ‹ÁËÛË ÂÈÛÓÂfiÌÂÓ˘ ·‰ÚÂÓ·Ï›Ó˘ Ì ÂΛÓË ÂÈÎÔÓÈÎÔ‡ Ê·ÚÌ¿ÎÔ˘ Û ÓÔÛËÏ¢fiÌÂÓ· ‚Ú¤ÊË, ‰ÂÓ ‚Ú¤ıËÎ·Ó ‰È·ÊÔÚ¤˜ ÛÙË ‰È¿ÚÎÂÈ· ÓÔÛËÏ›·˜ ÌÂٷ͇ ÙˆÓ ‰‡Ô ÔÌ¿‰ˆÓ (38). ¶·ÚfiÌÔÈ· ‹Ù·Ó Î·È Ù· Û˘ÌÂÚ¿ÛÌ·Ù· ÌÂÙ·-·Ó¿Ï˘Û˘ 14 ÌÂÏÂÙÒÓ ÁÈ· ÙË ‰Ú¿ÛË Ù˘ ÂÈÛÓÂfiÌÂÓ˘ ·‰ÚÂÓ·Ï›Ó˘ ÛÙËÓ ÔÍ›· ‚ÚÔÁ¯ÈÔÏ›Ùȉ· Ô˘ Û˘Ó¤ÎÚÈÓ·Ó ÙËÓ ·ÔÙÂÏÂÛÌ·ÙÈÎfiÙËÙ· Ù˘ ÂÈÛÓÂfiÌÂÓ˘ ·‰ÚÂÓ·Ï›Ó˘ Ì ÙË Û·Ï‚Ô˘Ù·ÌfiÏË ‹ Ì ÂÈÎÔÓÈÎfi Ê¿ÚÌ·ÎÔ Û ÓÔÛËÏ¢fiÌÂÓ· ‚Ú¤ÊË (39). ∞fi ÙËÓ ›‰È· ÌÂÙ·-·Ó¿Ï˘ÛË ÚԤ΢„ fiÙÈ Ë ·‰ÚÂÓ·Ï›ÓË ›Ûˆ˜ ˘ÂÚ¤¯ÂÈ ÂÏ·ÊÚÒ˜ ÙÔ˘ ÂÈÎÔÓÈÎÔ‡ Ê·ÚÌ¿ÎÔ˘ ÛÙËÓ ·ÓÙÈÌÂÙÒÈÛË ÙˆÓ ‚ÚÂÊÒÓ ÂÎÙfi˜ ÓÔÛÔÎÔÌ›Ԣ, ÂÓÒ ÂÈÛËÌ·›ÓÂÙ·È Ë ·Ó¿ÁÎË ÌÂÁ¿ÏˆÓ ÔÏ˘ÎÂÓÙÚÈÎÒÓ ÌÂÏÂÙÒÓ, ÚÔÎÂÈ̤ÓÔ˘ Ó· ··ÓÙËı› ÙÔ ÂÚÒÙËÌ· Ù˘ ·ÔÙÂÏÂÛÌ·ÙÈÎfiÙËÙ·˜ Ù˘ ÂÈÛÓÂfiÌÂÓ˘ ·‰ÚÂÓ·Ï›Ó˘ ÛÙË ÓfiÛÔ (39). ªÂϤÙ˜ Ì ÈηÓfi ·ÚÈıÌfi ‚ÚÂÊÒÓ Ì ÔÍ›· ‚ÚÔÁ¯ÈÔÏ›Ùȉ· Ô˘ ‰ËÌÔÛȇıËÎ·Ó ÌÂÙ¿ ÙËÓ ·Ú·¿Óˆ ÌÂÙ·-·Ó¿Ï˘ÛË Î·È Û˘Ó¤ÎÚÈÓ·Ó ÙË ÓÂÊÂÏÔÔÈË̤ÓË ·‰ÚÂÓ·Ï›ÓË Ì ÙË Û·Ï‚Ô˘Ù·ÌfiÏË (40-42) Î·È Ì ÂÈÎÔÓÈÎfi Ê¿ÚÌ·ÎÔ (41) ÙfiÛÔ ÛÙÔ ∆Ì‹Ì· ∂ÂÈÁfiÓÙˆÓ ¶ÂÚÈÛÙ·ÙÈÎÒÓ (40,41), fiÛÔ Î·È Û ÓÔÛËÏ¢fiÌÂÓÔ˘˜ ·ÛıÂÓ›˜ (42) ‰ÂÓ ¤‰ÂÈÍ·Ó ¿ÍÈ· ÏfiÁÔ˘ ˘ÂÚÔ¯‹ Ù˘ ÂÈÛÓÂfiÌÂÓ˘ ·‰ÚÂÓ·Ï›Ó˘. ∆¤ÏÔ˜, Ë ·Ó¿ÌÂÈÍË Ù˘ ·‰ÚÂÓ·Ï›Ó˘ Ì ˘¤ÚÙÔÓÔ ‰È¿Ï˘Ì· ¯ÏˆÚÈÔ‡¯Ô˘ Ó·ÙÚ›Ô˘ 3% ›¯Â ˆ˜ ·ÔÙ¤ÏÂÛÌ· ÙË ‚ÂÏÙ›ˆÛË Ù˘ ÎÏÈÓÈ΋˜ ÂÈÎfiÓ·˜ Î·È ÙËÓ ÂÏ¿ÙÙˆÛË Ù˘ ·Ú·ÌÔÓ‹˜ ÛÙÔ ÓÔÛÔÎÔÌÂ›Ô ‚ÚÂÊÒÓ Ì ‚ÚÔÁ¯ÈÔÏ›Ùȉ· ̤ÙÚÈ·˜ ‚·Ú‡ÙËÙ·˜ Û ۇÁÎÚÈÛË Ì ¯ÔÚ‹ÁËÛË Ù˘ ·‰ÚÂÓ·Ï›Ó˘ Û ‰È¿Ï˘Ì· Ê˘ÛÈÔÏÔÁÈÎÔ‡ ÔÚÔ‡ (43,44).

™ÙËÓ ∂ÏÏËÓÈ΋ √ÌÔʈӛ· ÁÈ· ÙËÓ ·ÓÙÈÌÂÙÒÈÛË Ù˘ ÔÍ›·˜ ‚ÚÔÁ¯ÈÔÏ›Ùȉ·˜ ÚÔÙ›ÓÂÙ·È Ë ‰ÔÎÈÌ·ÛÙÈ΋ ¯ÔÚ‹ÁËÛË Û·Ï‚Ô˘Ù·ÌfiÏ˘ ‹ ·‰ÚÂÓ·Ï›Ó˘ Ì ÓÂÊÂÏÔÔÈËÙ‹ ÛÙ· Ï·›ÛÈ· Ù˘ Â͈- ‹ ÂÓ‰Ô-ÓÔÛÔÎÔÌÂȷ΋˜ ·ÓÙÈÌÂÙÒÈÛ˘ Ù˘ ÓfiÛÔ˘ Ì ·ÍÈÔÏfiÁËÛË ÙÔ˘ ·ÔÙÂϤÛÌ·ÙÔ˜ (ÎÏÈÓÈ΋ ‚·ıÌÔÏfiÁËÛË, Ô͢ÌÂÙÚ›·) Î·È ÚÔÛÂÎÙÈ΋ ·Ú·ÎÔÏÔ‡ıËÛË ÙÔ˘ ·ÛıÂÓÔ‡˜ (25). ™ÙËÓ ›‰È· √ÌÔʈӛ· ÚÔÙ›ÓÂÙ·È Ë ¯ÔÚ‹ÁËÛË ·‰ÚÂÓ·Ï›Ó˘ (‰È¿Ï˘Ì· L-ÈÛÔÌÂÚÔ‡˜ 1:1000, 1 mg/ml, 1 ml/amp) Ì ÓÂÊÂÏÔÔÈËÙ‹ Û ‰fiÛË 2,5 mg (‰ËÏ·‰‹ 2,5 ml) ·Ó·ÌÂÌÂÈÁ̤ÓË ÌÂ Ê˘ÛÈÔÏÔÁÈÎfi ÔÚfi, ÒÛÙ ӷ ÂÈÙ¢¯ı› Û˘ÓÔÏÈÎfi˜ fiÁÎÔ˜ 4 ml. ∏ ‰fiÛË ÌÔÚ› Ó· Â·Ó·ÏËÊı› 2-3 ÊÔÚ¤˜, ·Ó¿ 30 min, Ì ۇÁ¯ÚÔÓË ·Ú·ÎÔÏÔ‡ıËÛË ÙÔ˘ ‚Ú¤ÊÔ˘˜. ™Â ÓÔÛËÏ¢fiÌÂÓ· ‚Ú¤ÊË, ÂÊfiÛÔÓ ˘¿ÚÍÂÈ ·ÓÙ·fiÎÚÈÛË, Ë ıÂÚ·›· ÌÔÚ› Ó· Û˘Ó¯ÈÛı› ·Ó¿ Ù·ÎÙ¿ ¯ÚÔÓÈο ‰È·ÛÙ‹Ì·Ù· (.¯. ·Ó¿ 4 ÒÚ˜) ̤¯ÚÈ Ó· ÛÙ·ıÂÚÔÔÈËı› Ë ÎÏÈÓÈ΋ ÂÈÎfiÓ· (25).

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4. Kaditis AG, Wald ER. Viral croup: current diagnosis and treatment. Pediatr Infect Dis J 1998;17:827-834.

5. ∂ÌÔÚÈ¿‰Ô˘ ª, ∫·‰›Ù˘ ∞, §·ÁÁÔ‡Û˘ ∞, ¶·Ó·ÁȈÙÔÔ‡ÏÔ˘-°·ÚÙ·Á¿ÓË ¶, ∆۷ӿη˜ π, ∂ÈÛËÁËÙÈ΋ ∂ÈÙÚÔ‹. £¤ÛË ÔÌÔʈӛ·˜ ÁÈ· ÙËÓ ·ÓÙÈÌÂÙÒÈÛË Ù˘ ÔÍ›·˜ Ï·Ú˘ÁÁÔÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ·˜. ™Â: ¶Ú›ÊÙ˘ ∫, ∞ÓıÚ·ÎfiÔ˘ÏÔ˜ ª, ÂÈÌÂÏËÙ¤˜ ¤Î‰ÔÛ˘. ∂ÏÏËÓÈΤ˜ √ÌÔʈӛ˜ ÁÈ· ÙË ¢È¿ÁÓˆÛË Î·È ∞ÓÙÈÌÂÙÒÈÛË ∞ÛıÌ·ÙÈÎÔ‡ ¶·ÚÔ͢ÛÌÔ‡, √Í›·˜ µÚÔÁ¯ÈÔÏ›Ùȉ·˜, √Í›·˜ §·Ú˘ÁÁÔÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ·˜. ∞ı‹Ó·: ∂ÏÏËÓÈ΋ ¶·È‰ÔÓ¢ÌÔÓÔÏÔÁÈ΋ ∂Ù·ÈÚ›·; 2003. ÛÂÏ. 85-106 Î·È ¶·Ú¿ÚÙËÌ·, ÛÂÏ. 121-125.

6. Lenney W, Milner AD. Treatment of acute viral croup.

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7. Bourchier D, Dawson KP, Fergusson DM. Humidification in viral croup: a controlled trial. Aust Paediatr J 1984;20: 289-291.

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9. Neto GM, Kentab O, Klassen TP, Osmond MH. A randomized controlled trial of mist in the acute treatment of moderate croup. Acad Emerg Med 2002;9:873-879.

10. Scolnik D, Coates AL, Stephens D, Da Silva Z, Lavine E, Schuh S. Controlled delivery of high vs low humidity vs mist therapy for croup in emergency departments: a randomized controlled trial. JAMA 2006;295:1274-1280.

11. Rodriguez GE, Branch LB, Cotton EK. The use of humidity in asthmatic children. J Allergy Clin Immunol 1975;56: 133-140.

12. Henry R. Moist air in the treatment of laryngotracheitis.

Arch Dis Child 1983;58:577. ¶·È‰È·ÙÚÈ΋ 2008;71:231-234

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13. Moore M, Little P. Humidified air inhalation for treating croup. Cochrane Database Syst Rev 2006;3:CD002870.

14. Waisman Y, Klein BL, Boenning DA, Young GM, Chamberlain JM, O’Donnell R, et al. Prospective randomized double-blind study comparing L-epinephrine and racemic epinephrine aerosols in the treatment of laryngotracheitis (croup). Pediatrics 1992;89:302-306.

15. Sparrow A, Geelhoed G. Prednisolone versus dexamethasone in croup: a randomised equivalence trial. Arch Dis Child 2006;91:580-583.

16. Duman M, Ozdemir D, Atasever S. Nebulised L-epinephrine and steroid combination in the treatment of moderate to severe croup. Clin Drug Investig 2005;25:183-189.

17. Bjornson CL, Johnson DW. Croup-treatment update. Pediatr Emerg Care 2005;21:863-870.

18. Butte MJ, Nguyen BX, Hutchison TJ, Wiggins JW, Ziegler JW. Pediatric myocardial infarction after racemic epinephrine administration. Pediatrics 1999;104:e9.

19. Wang EE, Law BJ, Boucher FD, Stephens D, Robinson JL, Dobson S, et al. Pediatric Investigators Collaborative Network on Infections in Canada (PICNIC) study of admission and management variation in patients hospitalized with respiratory syncytial viral lower respiratory tract infection. J Pediatr 1996;129:390-395.

20. Kimpen JL, Schaad UB. Treatment of respiratory syncytial virus bronchiolitis: 1995 poll of members of the European Society for Paediatric Infectious Diseases. Pediatr Infect Dis J 1997;16:479-481.

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24. Everard ML. Acute bronchiolitis and pneumonia in infancy resulting from the respiratory syncytial virus. In: Taussig LM, Landau L, Le Souëf PN, Morgan WJ, Martinez FD, Sly PD, editors. Pediatric Respiratory Medicine. St Louis: Mosby; 1999. p. 580-595.

25. ∞ÓıÚ·ÎfiÔ˘ÏÔ˜ ª, µ·ÏÂÚ‹ ∞, ¶··‰¿ÙÔ˜ π, ¶›˘ ™, ÷Ù˙ËÌȯ·‹Ï ∞, ∂ÈÛËÁËÙÈ΋ ∂ÈÙÚÔ‹. £¤ÛË ÔÌÔʈӛ·˜ ÁÈ· ÙËÓ ·ÓÙÈÌÂÙÒÈÛË Ù˘ ÔÍ›·˜ ‚ÚÔÁ¯ÈÔÏ›Ùȉ·˜. ™Â: ¶Ú›ÊÙ˘ ∫, ∞ÓıÚ·ÎfiÔ˘ÏÔ˜ ª, ÂÈÌÂÏËÙ¤˜ ¤Î‰ÔÛ˘. ∂ÏÏËÓÈΤ˜ √ÌÔʈӛ˜ ÁÈ· ÙË ¢È¿ÁÓˆÛË Î·È ∞ÓÙÈÌÂÙÒÈÛË ∞ÛıÌ·ÙÈÎÔ‡ ¶·ÚÔ͢ÛÌÔ‡, √Í›·˜ µÚÔÁ¯ÈÔÏ›Ùȉ·˜, √Í›·˜ §·Ú˘ÁÁÔÙÚ·¯ÂÈÔ‚ÚÔÁ¯›Ùȉ·˜. ∞ı‹Ó·: ∂ÏÏËÓÈ΋ ¶·È‰ÔÓ¢ÌÔÓÔÏÔÁÈ΋ ∂Ù·ÈÚ›·; 2003. ÛÂÏ. 49-84 Î·È ¶·Ú¿ÚÙËÌ·, ÛÂÏ. 115-120.

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38. Wainwright C, Altamirano L, Cheney M, Cheney J, Barber S, Price D, et al. A multicenter, randomized, double-blind, controlled trial of nebulized epinephrine in infants with acute bronchiolitis. N Engl J Med 2003;349:27-35.

39. Hartling L, Wiebe N, Russell K, Patel H, Klassen TP. Epinephrine for bronchiolitis. Cochrane Database Syst Rev 2004;(1):CD003123.

40. Mull CC, Scarfone RJ, Ferri LR, Carlin T, Salvaggio C, Bechtel KA, et al. A randomized trial of nebulized epinephrine vs albuterol in the emergency department treatment of bronchiolitis. Arch Pediatr Adolesc Med 2004;158:113-118.

41. Ralston S, Hartenberger C, Anaya T, Qualls C, Kelly HW. Randomized, placebo-controlled trial of albuterol and epinephrine at equipotent beta-2 agonist doses in acute bronchiolitis. Pediatr Pulmonol 2005;40:292-299.

42. Langley JM, Smith MB, LeBlanc JC, Joudrey H, Ojah CR, Pianosi P. Racemic epinephrine compared to salbutamol in hospitalized young children with bronchiolitis; a randomized controlled clinical trial [ISRCTN46561076]. BMC Pediatr 2005;5:7.

43. Mandelberg A, Tal G, Witzling M, Someck E, Houri S, Balin A, et al. Nebulized 3% hypertonic saline solution treatment in hospitalized infants with viral bronchiolitis.

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44. Tal G, Cesar K, Oron A, Houri S, Ballin A, Mandelberg A. Hypertonic saline/epinephrine treatment in hospitalized infants with viral bronchiolitis reduces hospitalization stay: 2 years experience. Isr Med Assoc J 2006;8:169-173.

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PRACTICAL ISSUE

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™‡Ó‰ÚÔÌÔ Turner: ∆È ı¤ÏÔ˘Ó Ó· Ì¿ıÔ˘Ó ÔÈ ÁÔÓ›˜ ™. ∫›ÙÛÈÔ˘-∆˙¤ÏË ¶ÂÚ›ÏË„Ë: ∆Ô Û‡Ó‰ÚÔÌÔ Turner ¯·Ú·ÎÙËÚ›˙ÂÙ·È ·fi ÎÔÓÙfi ·Ó¿ÛÙËÌ· Î·È ·ÓÂ¿ÚÎÂÈ· ˆÔıËÎÒÓ. ∏ ÂÚÁ·ÛÙËÚȷ΋ ‰È¿ÁÓˆÛË Á›ÓÂÙ·È Ì ÙËÓ ÂͤٷÛË Î·Ú˘ÔÙ‡Ô˘. ∏ ÎÏÈÓÈ΋ ÂÈÎfiÓ· ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ Turner ÔÊ›ÏÂÙ·È ÛÙËÓ ÔÏÈ΋ ‹ ÌÂÚÈ΋ ·Ô˘Û›· ÙÔ˘ ÂÓfi˜ ¯ÚˆÌÔÛÒÌ·ÙÔ˜ à (·fi Ù· ‰‡Ô). ∏ ÌÔÓÔۈ̛· à ‰ÂÓ ÎÏËÚÔÓÔÌÂ›Ù·È ·fi ÙÔ˘˜ ÁÔÓ›˜ Ô˘ ¤¯Ô˘Ó Ê˘ÛÈÔÏÔÁÈÎfi ηڢfiÙ˘Ô. √È Èı·ÓfiÙËÙ˜ Ó· Í·Ó·Û˘Ì‚Â› Û‡Ó‰ÚÔÌÔ Turner Û ÂfiÌÂÓÔ ·È‰› Ù˘ ›‰È·˜ ÔÈÎÔÁ¤ÓÂÈ·˜ ‰ÂÓ Â›Ó·È ÌÂÁ·Ï‡ÙÂÚ˜ ·fi ÙȘ ·Ó·ÌÂÓfiÌÂÓ˜ ÛÙÔÓ ÁÂÓÈÎfi ÏËı˘ÛÌfi (1:2.500). ¶ÚÔÁÂÓÓËÙÈο, Û˘Ó‹ıˆ˜, ‰È·ÁÈÁÓÒÛÎÂÙ·È Ù˘¯·›· fiÙ·Ó Á›ÓÂÙ·È ·ÌÓÈÔ·Ú·Î¤ÓÙËÛË ‹ Ï‹„Ë ÙÚÔÊÔ‚Ï¿ÛÙ˘ ÏfiÁˆ ÚÔ¯ˆÚË̤Ó˘ ËÏÈΛ·˜ Ù˘ ÌËÙ¤Ú·˜, ΢ڛˆ˜ ÁÈ· ÙÔÓ ·ÔÎÏÂÈÛÌfi ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ Down ‹ fiÙ·Ó Û ÓÂfiÙÂÚ˜ ÂÁ·Ԣ˜ ‰È·ÈÛÙˆıÔ‡Ó ·ıÔÏÔÁÈΤ˜ ÙÈ̤˜ ÛÙÔ˘˜ ‚ÈÔ¯ËÌÈÎÔ‡˜ ‹ ˘ÂÚ˯ÔÁÚ·ÊÈÎÔ‡˜ ‰Â›ÎÙ˜. ™Â οı ÂÚ›ÙˆÛË ÚÔÁÂÓÓËÙÈ΋˜ ‰È¿ÁÓˆÛ˘ Û˘Ó‰ÚfiÌÔ˘ Turner, Ú¤ÂÈ Ó· Û˘ÓÈÛÙ¿Ù·È ÏÂÙÔÌÂÚ‹˜ ˘ÂÚ˯ÔÁÚ·ÊÈÎfi˜ ¤ÏÂÁ¯Ô˜ ÙÔ˘ ÂÌ‚Ú‡Ô˘, ÒÛÙ ӷ ·ÔÎÏÂÈÛÙÔ‡Ó Ù˘¯fiÓ ÛÔ‚·Ú¤˜ ·Ó·ÙÔÌÈΤ˜ ‚Ï¿‚˜. ∂›Ó·È ÛËÌ·ÓÙÈÎfi Ó· ηٷÓÔ‹ÛÔ˘Ó ÔÈ ÁÔÓ›˜ ÙË ÛËÌ·Û›· Ù˘ ¤ÁηÈÚ˘ Î·È Û˘Ó¯ԇ˜ ηıÔ‰‹ÁËÛ˘ ·fi ÂÓ‰ÔÎÚÈÓÔÏfiÁÔ.

∂ÚÁ·ÛÙ‹ÚÈÔ π·ÙÚÈ΋˜ °ÂÓÂÙÈ΋˜ ¶·ÓÂÈÛÙËÌ›Ô˘ ∞ıËÓÒÓ, ¡ÔÛÔÎÔÌÂ›Ô ¶·›‰ˆÓ “∞Á›· ™ÔÊ›·” AÏÏËÏÔÁÚ·Ê›·: ™ÔÊ›· ∫›ÙÛÈÔ˘-∆˙¤ÏË skitsiou@med.uoa.gr ∂ÚÁ·ÛÙ‹ÚÈÔ π·ÙÚÈ΋˜ °ÂÓÂÙÈ΋˜ ¶·ÓÂÈÛÙËÌ›Ô˘ ∞ıËÓÒÓ, ¡ÔÛÔÎÔÌÂ›Ô ¶·›‰ˆÓ “∞Á›· ™ÔÊ›·”

§¤ÍÂȘ ÎÏÂȉȿ: ™‡Ó‰ÚÔÌÔ Turner, ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË, ÁÂÓÂÙÈ΋ Û˘Ì‚Ô˘Ï¢ÙÈ΋, Û˘ÛÙ¿ÛÂȘ, ·ÓÙÈÌÂÙÒÈÛË.

Turner syndrome: What the parents want to know S. ∫itsiou-∆zeli Abstract: Turner syndrome is characterized by short stature and gonadal dysgenesis. The karyotype confirms the clinical diagnosis. The phenotype of Turner syndrome is the result of complete or partial absence of one of the two X chromosomes in females. Monosomy X is not inherited provided that the parents have normal karyotypes. The recurrence risk for the family is not considered higher than the prevalence in live births (1:2,500). Prenatal diagnosis of Turner syndrome is usually an unexpected finding when amniocentesis or chorionic villus sampling (CVS) is performed because of advanced maternal age or abnormal prenatal biochemical or ultrasound (US) screening tests. In such a case, a detailed US study of the foetus with Turner syndrome is strongly indicated. The parents should receive appropriate genetic counselling and be referred to a paediatric endocrinologist for further information about the problem of their unborn daughter.

Medical Genetics Laboratory, University of Athens, “Aghia Sofia” Children’s Hospital, Athens, Greece Correspondence: SÔfia ∫itsiou-∆zeli skitsiou@med.uoa.gr Medical Genetics Laboratory, University of Athens, “Aghia Sofia” Children’s Hospital, Athens, Greece

Key words: Turner syndrome, genetic counselling, prenatal diagnosis, recommendations, management.

∆Ô Û‡Ó‰ÚÔÌÔ Turner ·ÊÔÚ¿ ·ÔÎÏÂÈÛÙÈο ÎÔÚ›ÙÛÈ· Ì ΢ÚÈfiÙÂÚÔ Úfi‚ÏËÌ· ÙÔ ÎÔÓÙfi ·Ó¿ÛÙËÌ· Î·È ÙËÓ ·ÓÂ¿ÚÎÂÈ· ˆÔıËÎÒÓ Î·È ·ÔÙÂÏ› ÙË Û˘ÓËı¤ÛÙÂÚË ¯ÚˆÌÔÛˆÌÈ΋ ·ÓˆÌ·Ï›· ÙÔ˘ ʇÏÔ˘ Û ·˘Ù¿. ¶·Ú·ÙËÚÂ›Ù·È ÛÙÔ 3% fiÏˆÓ ÙˆÓ Û˘ÏÏ‹„ÂˆÓ ıËϤˆÓ ÂÌ‚Ú‡ˆÓ, ÂÓÒ ÏÈÁfiÙÂÚÔ Û˘¯Ó¿ Û ÓÂÔÁ¤ÓÓËÙ· (1:2.500), ‰ÈfiÙÈ Ù· ÂÚÈÛÛfiÙÂÚ· ·Ô‚¿ÏÏÔÓÙ·È (ÙÔ 15% ÙˆÓ ·Ô‚ÔÏÒÓ ¤¯Ô˘Ó Û‡Ó‰ÚÔÌÔ ∆urner). ÀÔÏÔÁ›˙ÂÙ·È fiÙÈ ÌfiÓÔ 1:100 ¤Ì‚Ú˘· Ì ۇӉÚÔÌÔ ∆urner ÂÈ‚ÈÒÓÔ˘Ó Ì¤¯ÚÈ ÙÔ Ù¤ÏÔ˜ Ù˘ ·ËÛ˘ (1). ∂ÙËÛ›ˆ˜, ÛÙË ¯ÒÚ· Ì·˜ ¤¯Ô˘Ì ~50 Ӥ˜ ÂÚÈÙÒÛÂȘ ÓÂÔÁ¤ÓÓËÙˆÓ Ì ۇӉÚÔÌÔ Turner. ∆Ô Û‡Ó‰ÚÔÌÔ Turner ÂÚÈÁÚ¿ÊËΠÁÈ· ÚÒÙË ÊÔÚ¿ ÛÙË ‰ÂηÂÙ›· ÙÔ˘ 1930 ·fi ÙÔ˘˜ Dr. Otto Ulrich Î·È Dr. Henry Turner, ÂÓÒ 20 ¯ÚfiÓÈ· ·ÚÁfiÙÂÚ· ·Ó·ÁÓˆÚ›ÛÙËΠˆ˜ ¯ÚˆÌÔÛˆÌÈ΋ ‰È·Ù·Ú·¯‹ ·fi ÙÔ µÚÂÙ·Ófi Dr. Ford. ∆˘Èο, ÙÔ

Û‡Ó‰ÚÔÌÔ Turner Û˘Û¯ÂÙ›˙ÂÙ·È Ì ÙËÓ ·Ô˘Û›· ÂÓfi˜ ¯ÚˆÌÔÛÒÌ·ÙÔ˜ à (45,Ã), ·Ó Î·È ÌÔÚ› Ó· ÔÊ›ÏÂÙ·È Û ̈۷˚ÎÈÛÌfi ‹ ‰ÔÌÈΤ˜ ‰È·Ù·Ú·¯¤˜ ÙÔ˘ ÂÓfi˜ ¯ÚˆÌÔÛÒÌ·ÙÔ˜ Ã. ∏ ÂÚÁ·ÛÙËÚȷ΋ ‰È¿ÁÓˆÛË Á›ÓÂÙ·È Ì ÙËÓ ÂͤٷÛË Î·Ú˘ÔÙ‡Ô˘ Û ÏÂÌÊÔ·ÙÙ·Ú· ÂÚÈÊÂÚÈÎÔ‡ ·›Ì·ÙÔ˜ ‹ ·ÙÙ·Ú· ¿ÏÏÔ˘ ÈÛÙÔ‡ (ÈÓÔ‚Ï¿ÛÙ˜ ‰¤ÚÌ·ÙÔ˜ ‹ ·ÌÓÈ·ÎÔ‡ ˘ÁÚÔ‡ ‹ ·ÙÙ·Ú· ÙÚÔÊÔ‚Ï¿ÛÙ˘).

¶fiÙ Á›ÓÂÙ·È Ë ·Ú·ÔÌ‹ ÁÈ· ÁÂÓÂÙÈÎfi ¤ÏÂÁ¯Ô; ∞̤ۈ˜ ÌÂÙ¿ ÙË Á¤ÓÓËÛË ‹ Û ÔÔÈ·‰‹ÔÙ ËÏÈΛ· ˘¿Ú¯Ô˘Ó ÂӉ›ÍÂȘ, fiˆ˜ ÎÔÓÙfi ·Ó¿ÛÙËÌ·, ηı˘ÛÙ¤ÚËÛË ÂÊ˂›·˜/·ÌËÓfiÚÚÔÈ·, ‰È·Ù·Ú·¯¤˜ ÂÚÈfi‰Ô˘/˘ÔÁÔÓÈÌfiÙËÙ·, ‰È¿ÊÔÚ· ¿ÏÏ· ȉȷ›ÙÂÚ· ۈ̷ÙÈο ¯·Ú·ÎÙËÚÈÛÙÈο (·˘¯ÂÓÈÎfi ÙÂÚ‡ÁÈÔ, ¢ڇ˜ ıÒڷη˜, ÌÂÁ¿ÏË ·fiÛÙ·ÛË ÙˆÓ ıËÏÒÓ, ‚Ï·ÈÛfiÙËÙ· ·ÁÎÒÓˆÓ, ¶·È‰È·ÙÚÈ΋ 2008;71:235-237

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·236

236

™. ∫›ÙÛÈÔ˘-∆˙¤ÏË

˘Âگڈ̷ÙÈÎÔ› Û›ÏÔÈ, ÏÂÌÊÔ›‰ËÌ· ÙˆÓ ¿ÎÚˆÓ Î.¿.), ‹ Î·È ÛÔ‚·ÚfiÙÂÚ· ÚÔ‚Ï‹Ì·Ù· ˘Á›·˜ (ÛÙ¤ÓˆÛË ÈÛıÌÔ‡ ·ÔÚÙ‹˜, ˘¤ÚÙ·ÛË, ÔÛÙÂÔfiÚˆÛË, Î.¿.) (∂ÈÎfiÓ· 1). ¶Ú¤ÂÈ Ó· ÙÔÓÈÛÙ› fiÙÈ ‰ÂÓ Â›Ó·È ˘Ô¯ÚˆÙÈÎfi οı ÎÔÚ›ÙÛÈ Ì ۇӉÚÔÌÔ Turner Ó· ÂÌÊ·Ó›˙ÂÈ fiϘ ÙȘ ÂΉËÏÒÛÂȘ Ô˘ ÂÚÈÁÚ¿ÊÔÓÙ·È. ∞fi ÙÔ Û‡ÓÔÏÔ ÙˆÓ ·ÙfiÌˆÓ Ì ۇӉÚÔÌÔ Turner, ‰È¿ÁÓˆÛË Á›ÓÂÙ·È ÛÙÔ 1/3 ÂÚ›Ô˘ ·Ì¤Ûˆ˜ ÌÂÙ¿ ÙË Á¤ÓÓËÛË, ÛÙÔ 1/3 ηٿ ÙËÓ ·È‰È΋ ËÏÈΛ· Î·È ÛÙÔ ˘fiÏÔÈÔ 1/3 ÛÙËÓ ÂÊ˂›·, ÂÓÒ ÌÂÚÈΤ˜ ÊÔÚ¤˜ ·ÎfiÌË Î·È ·ÚÁfiÙÂÚ·. ∏ ¤ÁηÈÚË ‰È¿ÁÓˆÛË ÂÈÙÚ¤ÂÈ ÙËÓ ¿ÌÂÛË ·ÓÙÈÌÂÙÒÈÛË Î·È ÙÔÓ ÚÔÁÚ·ÌÌ·ÙÈÛÌfi ÙˆÓ ·Ú·ÎÏÈÓÈÎÒÓ ÂÍÂÙ¿ÛÂˆÓ ·fi ÔÌ¿‰· ÂȉÈÎÒÓ (·È‰È¿ÙÚˆÓ, ÂÓ‰ÔÎÚÈÓÔÏfiÁˆÓ, ηډÈÔÏfiÁˆÓ) (2).

¶Ô‡ ÔÊ›ÏÂÙ·È ÙÔ Û‡Ó‰ÚÔÌÔ Turner; H ÎÏÈÓÈ΋ ÂÈÎfiÓ· ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ Turner ÔÊ›ÏÂÙ·È ÛÙËÓ ÔÏÈ΋ ‹ ÌÂÚÈ΋ ·Ô˘Û›· ÙÔ˘ ÂÓfi˜ ¯ÚˆÌÔÛÒÌ·ÙÔ˜ à (·fi Ù· ‰‡Ô), Ù· ÔÔ›· Â›Ó·È ··Ú·›ÙËÙ· Û ‰ÈÏ‹ ‰fiÛË ÁÈ· ÙËÓ ˆÚ›Ì·ÓÛË ÙˆÓ ÁÂÓÓËÙÈÎÒÓ Î˘ÙÙ¿ÚˆÓ Î·È ÙË ÛˆÌ·ÙÈ΋ ·Ó¿Ù˘ÍË ÙÔ˘ ı‹ÏÂÔ˜. ∏ ÔÏÈ΋ ·Ô˘Û›· ÙÔ˘ ¯ÚˆÌÔÛÒÌ·ÙÔ˜ à (ÌÔÓÔۈ̛· Ã) ÔÊ›ÏÂÙ·È ÛÂ Ù˘¯·›Ô Ï¿ıÔ˜ ηٿ ÙÔ ‰È·¯ˆÚÈÛÌfi ÙˆÓ ¯ÚˆÌÔÛˆÌ¿ÙˆÓ ÙÔ˘ ʇÏÔ˘, Ô˘ Á›ÓÂÙ·È, ÁÈ· ¿ÁÓˆÛÙÔ˘˜ ̤¯ÚÈ ÛÙÈÁÌ‹˜ ÏfiÁÔ˘˜, ›Ù ÛÙÔ ˆÔ·ÙÙ·ÚÔ (ÂÚȤ¯ÂÈ ¯ÚˆÌÔÛÒÌ·Ù· Ã Î·È Ã) ›Ù ÛÙÔ ÛÂÚÌ·ÙÔ·ÙÙ·ÚÔ (¯ÚˆÌÔÛÒÌ·Ù· Ã Î·È À). ŒÙÛÈ ÙÔ ˆ¿ÚÈÔ ‹ Û˘ÓËı¤ÛÙÂÚ· ÙÔ ÛÂÚÌ·ÙÔ˙ˆ¿ÚÈÔ Ô˘ Û¯ËÌ·Ù›˙ÂÙ·È ¯ˆÚ›˜ ¯ÚˆÌfiۈ̷ Ã, Ô‰ËÁ› ÛÙË Û‡ÏÏË„Ë ı‹ÏÂÔ˜ ÂÌ‚Ú‡Ô˘ Ì ¤Ó· ÌfiÓÔ ·Î¤Ú·ÈÔ ¯ÚˆÌfiۈ̷ à ·ÓÙ› ÙˆÓ ‰‡Ô. ™Â ÔÚÈṲ̂Ó˜ ÂÚÈÙÒÛÂȘ, ÌÔÚ› ÙÔ ÁÔÓÈÌÔÔÈË̤ÓÔ ˆ¿ÚÈÔ Ó· ÂÚȤ¯ÂÈ ‰‡Ô ¯ÚˆÌÔÛÒÌ·Ù· à (¤Ó· ·fi οı ÁÔÓ¤·), ·ÏÏ¿ Û οÔÈ· ·fi ÙȘ ÌÂÙ·ÁÂÓ¤ÛÙÂÚ˜ ‰È·ÈÚ¤ÛÂȘ ÙˆÓ Î˘ÙÙ¿ÚˆÓ ÙÔ˘ ÂÌ‚Ú‡Ô˘ ¯¿ÓÂÙ·È ÙÔ ¤Ó· ¯ÚˆÌfiۈ̷ Ã. ∆Ô ·È‰› ·˘Ùfi ı· ¤¯ÂÈ ÌˆÛ·˚ÎÈÛÌfi, ‰ËÏ·‰‹ Ì›ÁÌ· ΢ÙÙ¿ÚˆÓ Ê˘ÛÈÔÏÔÁÈÎÒÓ (46,ÃÃ) Î·È Î˘ÙÙ¿ÚˆÓ Ì ÌÔÓÔۈ̛· à (45,Ã0). ŸÛÔ ÏÈÁfiÙÂÚ· Â›Ó·È Ù· ÌÔÓÔÛˆÌÈο à ·ÙÙ·Ú·, ÙfiÛÔ Î·Ï‡ÙÂÚË Â›Ó·È Ë ÎÏÈÓÈ΋ ÂÈÎfiÓ·. ™‡Ó‰ÚÔÌÔ Turner ÌÔÚ› Ó· ÚÔÎÏËı› Î·È fiÙ·Ó ˘¿Ú¯Ô˘Ó ‰‡Ô ¯ÚˆÌÔÛÒÌ·Ù· Ã, ·ÏÏ¿ ÙÔ ¤Ó· à ӷ ¤¯ÂÈ Î¿ÔÈ· ‚Ï¿‚Ë ÛÙÔ Ì·ÎÚfi ‹ ÛÙÔ ‚Ú·¯‡ ÛΤÏÔ˜, Û˘Ó‹ıˆ˜ ¤ÏÏÂÈ„Ë Î¿ÔÈ·˜ ÂÚÈÔ¯‹˜ (ÌÂÚÈ΋ ÌÔÓÔۈ̛· Ã). √È ‰ÔÌÈΤ˜ ‚Ï¿‚˜ ÚÔ¤Ú¯ÔÓÙ·È ·fi Ï¿ıÔ˜ ηٿ ÙË Ì›ˆÛË Â›ÙÂ ÙˆÓ ˆÔ΢ÙÙ¿ÚˆÓ Ù˘ ÌËÙ¤Ú·˜ ‹ ÙˆÓ ÛÂÚÌ·ÙÔ΢ÙÙ¿ÚˆÓ ÙÔ˘ ·Ù¤Ú·, ¯ˆÚ›˜ Ó· ‰È·ÊÔÚÔÔÈÂ›Ù·È Ô Ê·ÈÓfiÙ˘Ô˜ ·Ó¿ÏÔÁ·. √ÔÈ·‰‹ÔÙ ‰ÔÌÈ΋ ·ÓˆÌ·Ï›· ÛÙÔ ¯ÚˆÌfiۈ̷ à ԉËÁ› Û ʷÈÓfiÙ˘Ô Û˘Ó‰ÚfiÌÔ˘ Turner, Ô oÔ›Ô˜ ÔÈΛÏÏÂÈ ·Ó¿ÏÔÁ· Ì ÙËÓ ÂÚÈÔ¯‹ Î·È ÙËÓ ¤ÎÙ·ÛË Ù˘ ‰ÔÌÈ΋˜ ·ÓˆÌ·Ï›·˜. ∞˘Ùfi Û˘Ì‚·›ÓÂÈ ‰ÈfiÙÈ Û ÔÚÈṲ̂ӷ ÛËÌ›· ÙˆÓ ¯ÚˆÌÔÛˆÌ¿ÙˆÓ Ã ÂÓÙÔ›˙ÔÓÙ·È ÁÔÓ›‰È· Paediatriki 2008;71:235-237

∫ÔÓÙfi ·Ó¿ÛÙËÌ· ∂˘Ú‡˜ ıÒڷη˜ ªÂÁ¿ÏË ·fiÛÙ·ÛË ıËÏÒÓ µÚ·¯¤· ÌÂٷοÚÈ· ÀÂگڈ̷ÙÈÎÔ› Û›ÏÔÈ

÷ڷÎÙËÚÈÛÙÈÎfi ÚfiÛˆÔ ∞˘¯ÂÓÈÎfi ÙÂÚ‡ÁÈÔ πÛıÌÈ΋ ÛÙ¤ÓˆÛË ·ÔÚÙ‹˜ ∞ÙÂÏ‹˜ ·Ó¿Ù˘ÍË Ì·ÛÙÒÓ µÏ·ÈÛfiÙËÙ· ·ÁÎÒÓˆÓ ∆·ÈÓÈÔÂȉ›˜ ÁÔÓ¿‰Â˜

∞ÌËÓfiÚÚÔÈ·

∂ÈÎfiÓ· 1. ∂˘Ú‹Ì·Ù· ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ ∆urner.

··Ú·›ÙËÙ· Û ‰ÈÏ‹ ‰fiÛË ÁÈ· ÙË Ê˘ÛÈÔÏÔÁÈ΋ ÏÂÈÙÔ˘ÚÁ›·: ÙÔ ÁÔÓ›‰ÈÔ SHOX (ÛÙËÓ ÂÚÈÔ¯‹ Ãp22.3) ÁÈ· ÙËÓ ·Ó¿Ù˘ÍË ÙÔ˘ ÛÎÂÏÂÙÔ‡ Î·È ÙÔ˘ ·Ó·ÛÙ‹Ì·ÙÔ˜ (3) Î·È Ù· ÁÔÓ›‰È· DIAPH2 (ÛÙËÓ ÂÚÈÔ¯‹ Ãp11.4) Î·È USP9X (ÛÙËÓ ÂÚÈÔ¯‹ Xq1.3) ÁÈ· ÙËÓ ·Ó¿Ù˘ÍË Î·È ÏÂÈÙÔ˘ÚÁ›· ÙˆÓ ˆÔıËÎÒÓ (4). ∂Ô̤ӈ˜, ·Ó¿ÏÔÁ· Ì ÙËÓ ÂÚÈÔ¯‹ Ù˘ ‰ÔÌÈ΋˜ ‚Ï¿‚˘, ÔÈ ÂΉËÏÒÛÂȘ ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ Turner Â›Ó·È ‰È·ÊÔÚÂÙÈΤ˜. ¢È¢ÎÚÈÓ›˙ÂÙ·È fiÙÈ Ô‡ÙÂ Ë ÚÔ¯ˆÚË̤ÓË ËÏÈΛ· Ù˘ ÌËÙ¤Ú·˜ Ô‡ÙÂ Ë ¤ÎıÂÛË ÙÔ˘ ÂÌ‚Ú‡Ô˘ Û ÙÔÍÈÎÔ‡˜ ·Ú¿ÁÔÓÙ˜ ηٿ ÙËÓ Î‡ËÛË (Ê¿Ú̷η, οÓÈÛÌ·, ·ÏÎÔfiÏ Î.Ï.) ¤¯ÂÈ ‰È·ÈÛÙˆı› Ó· Û˘Û¯ÂÙ›˙ÔÓÙ·È Ì ÙÔ Û‡Ó‰ÚÔÌÔ Turner.

∂›Ó·È ÎÏËÚÔÓÔÌÈÎfi ÙÔ Û‡Ó‰ÚÔÌÔ Turner; ∏ ÌÔÓÔۈ̛· à ‰ÂÓ ÎÏËÚÔÓÔÌÂ›Ù·È ·fi ÁÔÓ›˜ Ô˘ ¤¯Ô˘Ó Ê˘ÛÈÔÏÔÁÈÎfi ηڢfiÙ˘Ô. ∆Ô Û‡Ó‰ÚÔÌÔ Turner ÂÌÊ·Ó›˙ÂÙ·È Û fiϘ ÙȘ Ê˘Ï¤˜ Î·È ÂıÓÈÎfiÙËÙ˜, ·ÎfiÌ· Î·È Û ÔÈÎÔÁ¤ÓÂȘ Ì ÔÏÏ¿ Ê˘ÛÈÔÏÔÁÈο ·È‰È¿. OÈ Èı·ÓfiÙËÙ˜ Ó· Í·Ó·Û˘Ì‚Â› Û‡Ó‰ÚÔÌÔ Turner Û ÂfiÌÂÓÔ ·È‰› Ù˘ ›‰È·˜ ÔÈÎÔÁ¤ÓÂÈ·˜ ‰ÂÓ Â›Ó·È ÌÂÁ·Ï‡ÙÂÚ˜ ·fi ÙȘ ·Ó·ÌÂÓfiÌÂÓ˜ ÛÙÔ ÁÂÓÈÎfi ÏËı˘ÛÌfi (~1:2.500). ∏ ÌfiÓË ÂÚ›ÙˆÛË “ÎÏËÚÔÓÔÌÈÎÔ‡” Û˘Ó‰ÚfiÌÔ˘ Turner Â›Ó·È Ë ‰ÔÌÈ΋ ·ÓˆÌ·Ï›· ÙÔ˘ ¯ÚˆÌÔÛÒÌ·ÙÔ˜ à Ô˘ ÌÂÙ·‚È‚¿˙ÂÙ·È ·fi ÁÔÓ¤·. °È· ÙÔ ÏfiÁÔ ·˘Ùfi, ÛÙȘ ÂÚÈÙÒÛÂȘ ·˘Ù¤˜, Ú¤ÂÈ Ó· ÂϤÁ¯ÂÙ·È Ô Î·Ú˘fiÙ˘Ô˜ ÙˆÓ ÁÔÓ¤ˆÓ. ∂¿Ó ‰È·ÈÛÙˆı› fiÙÈ Ë ÌËÙ¤Ú· ¤¯ÂÈ ‰ÔÌÈ΋ ·ÓˆÌ·Ï›· ÙÔ˘ ¯ÚˆÌÔÛÒÌ·ÙÔ˜ Ã, Ú¤ÂÈ Û οı ÂfiÌÂÓË Î‡ËÛË Ó· ˘Ô‚¿ÏÏÂÙ·È Û ÚÔÁÂÓÓËÙÈÎfi ¯ÚˆÌÔÛˆÌÈÎfi ¤ÏÂÁ¯Ô. ªÔÚ› ÙÔ Û‡Ó‰ÚÔÌÔ Turner Ó· ÂÓÙÔÈÛÙ› ÚÈÓ ·fi ÙË Á¤ÓÓËÛË; ∆Ô Û‡Ó‰ÚÔÌÔ Turner ÂÓÙÔ›˙ÂÙ·È Â‡ÎÔÏ· Ì ÙÔÓ ÚÔÁÂÓÓËÙÈÎfi ¤ÏÂÁ¯Ô. ™˘Ó‹ıˆ˜ ‰È·ÁÈÁÓÒÛÎÂÙ·È Ù˘¯·›·, fiÙ·Ó ÏfiÁˆ ÚÔ¯ˆÚË̤Ó˘ ËÏÈΛ·˜ Ù˘ ÌËÙ¤Ú·˜ Á›ÓÂÙ·È ·ÌÓÈÔ·Ú·Î¤ÓÙËÛË ‹ Ï‹„Ë ÙÚÔÊÔ‚Ï¿ÛÙ˘

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™‡Ó‰ÚÔÌÔ Turner

(CVS), Ì ÛÎÔfi ÙÔ ¯ÚˆÌÔÛˆÌÈÎfi ¤ÏÂÁ¯Ô ÙÔ˘ ÂÌ‚Ú‡Ô˘, ΢ڛˆ˜ ÁÈ· ÙÔÓ ·ÔÎÏÂÈÛÌfi ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ Down. ∂›Û˘ Û ÓÂfiÙÂÚ˜ ÂÁ·Ԣ˜, fiÙ·Ó ÛÙÔ ÁÂÓÈÎfi ·ÓȯÓ¢ÙÈÎfi ¤ÏÂÁ¯Ô Ô˘ ˘Ô‚¿ÏÏÔÓÙ·È, ‰È·ÈÛÙˆıÔ‡Ó ·ıÔÏÔÁÈΤ˜ ÙÈ̤˜ ÛÙÔ˘˜ ‚ÈÔ¯ËÌÈÎÔ‡˜ ‰Â›ÎÙ˜ (↑‚-hCG, ↓AFP, ↓uE3), Î·È Á›ÓÂÙ·È ·Ú·ÔÌ‹ ÁÈ· ¯ÚˆÌÔÛˆÌÈÎfi ¤ÏÂÁ¯Ô ÙÔ˘ ÂÌ‚Ú‡Ô˘ Ì ÙÚÔÊÔ‚Ï¿ÛÙË ‹ ·ÌÓÈÔ·Ú·Î¤ÓÙËÛË. ∂ÈϤÔÓ, Ì ÙÔÓ Ù˘¯·›Ô ÚÔÁÂÓÓËÙÈÎfi ˘ÂÚ˯ÔÁÚ·ÊÈÎfi ¤ÏÂÁ¯Ô ÌÔÚ› Ó· ÂÓÙÔÈÛÙ› ÙÔ Û‡Ó‰ÚÔÌÔ Turner, fiÙ·Ó ·ÔηχÙÔÓÙ·È Û˘ÁÁÂÓ›˜ ·ÓˆÌ·Ï›Â˜ (‡‰Úˆ·˜, ÏÂÌÊÔ›‰ËÌ·, ηډÈÔ¿ıÂÈ·, ÓÂÊÚÔ¿ıÂÈ·, ηı˘ÛÙ¤ÚËÛË ·Ó¿Ù˘Í˘, ·˘ÍË̤ÓË ·˘¯ÂÓÈ΋ ‰È·Ê¿ÓÂÈ·, ΢ÛÙÈÎfi ‡Áڈ̷). ∆fiÙÂ Ë ¤ÁÎ˘Ô˜ ·Ú·¤ÌÂÙ·È ÁÈ· ¯ÚˆÌÔÛˆÌÈÎfi ¤ÏÂÁ¯Ô ÙÔ˘ ÂÌ‚Ú‡Ô˘ Ì ÙÚÔÊÔ‚Ï¿ÛÙË ‹ ·ÌÓÈÔ·Ú·Î¤ÓÙËÛË. ∞fi Ù· ¤Ì‚Ú˘· Ì ηڢfiÙ˘Ô 45,Ã, ·ıÔÏÔÁÈο ˘ÂÚ˯ÔÁÚ·ÊÈο Â˘Ú‹Ì·Ù· ÂÌÊ·Ó›˙ÂÈ ÂÚ›Ô˘ ÙÔ 70%. °ÂÓÈÎfiÙÂÚ·, ıˆÚÂ›Ù·È fiÙÈ Â›Ó·È Î·Ï‡ÙÂÚË Ë ÚfiÁÓˆÛË fiÙ·Ó Ë ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË Á›ÓÂÙ·È Ì¤Ûˆ ÙÔ˘ Ù˘¯·›Ô˘ ¯ÚˆÌÔÛˆÌÈÎÔ‡ ÂϤÁ¯Ô˘ Û ۇÁÎÚÈÛË Ì ÙÔÓ ˘ÂÚ˯ÔÁÚ·ÊÈÎfi ¤ÏÂÁ¯Ô. ™Â οı ÂÚ›ÙˆÛË Ô˘ ‰È·ÈÛÙÒÓÂÙ·È ÌˆÛ·˚ÎÈÛÌfi˜ Û˘Ó‰ÚfiÌÔ˘ Turner Û ÙÚÔÊÔ‚Ï¿ÛÙË (CVS), Û˘ÓÈÛÙ¿Ù·È Ë ÂȂ‚·›ˆÛË ÙÔ˘ Â˘Ú‹Ì·ÙÔ˜ Ì ·ÌÓÈÔ·Ú·Î¤ÓÙËÛË.

∆È ÚÔ‚Ï‹Ì·Ù· ÌÔÚ› Ó· ¤¯ÂÈ ÙÔ ·È‰› Ì ۇӉÚÔÌÔ Turner; To Û‡Ó‰ÚÔÌÔ Turner ‰ÂÓ ıˆÚÂ›Ù·È ÛÔ‚·Ú‹ ¯ÚˆÌÔÛˆÌÈ΋ ‰È·Ù·Ú·¯‹, ‰ÈfiÙÈ ÂËÚ¿˙ÂÈ Î˘Ú›ˆ˜ ÙÔ ·Ó¿ÛÙËÌ· Î·È ÙËÓ Â¿ÚÎÂÈ· ˆÔıËÎÒÓ, ÂÓÒ ‰ÂÓ ·Ó·Ì¤ÓÂÙ·È ÓÔËÙÈ΋ ˘ÛÙ¤ÚËÛË. ªÂÚÈο ¿ÙÔÌ· Ì ۇӉÚÔÌÔ Turner ¤¯Ô˘Ó ËÈfiÙÂÚ˜ ÂΉËÏÒÛÂȘ, ÔÈ Ôԛ˜ fï˜ ‰ÂÓ ÌÔÚÔ‡Ó Ó· ÚÔ‚ÏÂÊıÔ‡Ó Ì ·ÎÚ›‚ÂÈ· ÚÈÓ ·fi ÙË Á¤ÓÓËÛË Ì ‚¿ÛË ÌfiÓÔ Ù· Â˘Ú‹Ì·Ù· ÙÔ˘ ηڢÔÙ‡Ô˘ Î·È ÙÔ˘ ˘ÂÚ˯ÔÁÚ·Ê‹Ì·ÙÔ˜. ™Â οı ÂÚ›ÙˆÛË Ô˘ ‰È·ÁÈÁÓÒÛÎÂÙ·È ÚÔÁÂÓÓËÙÈο ηڢfiÙ˘Ô˜ Û˘Ó‰ÚfiÌÔ˘ Turner Ú¤ÂÈ Ó· Û˘ÓÈÛÙ¿Ù·È ÏÂÙÔÌÂÚ‹˜ ηډÈÔÏÔÁÈÎfi˜ ¤ÏÂÁ¯Ô˜ ÙÔ˘ ÂÌ‚Ú‡Ô˘, ηıÒ˜ Î·È ˘ÂÚ˯ÔÁÚ·ÊÈÎfi˜ ¤ÏÂÁ¯Ô˜ ÙˆÓ ÓÂÊÚÒÓ Î·È ÙˆÓ ÁÂÓÓËÙÈÎÒÓ ÔÚÁ¿ÓˆÓ, ÒÛÙ ӷ ·ÔÎÏÂÈÛıÔ‡Ó Ù˘¯fiÓ ÛÔ‚·Ú¤˜ ·Ó·ÙÔÌÈΤ˜ ‚Ï¿‚˜. ªÂ ÙËÓ ¤ÁηÈÚË Î·È Û˘Ó¯‹ ηıÔ‰‹ÁËÛË ÙÔ˘ ÂÓ‰ÔÎÚÈÓÔÏfiÁÔ˘ Î·È ÙȘ ÛËÌÂÚÈÓ¤˜ ıÂÚ·¢ÙÈΤ˜ ‰˘Ó·ÙfiÙËÙ˜ Ô˘ ˘¿Ú¯Ô˘Ó, ÌÔÚ› Ó· ·ÓÙÈÌÂÙˆÈÛÙ› ÙÔ ÎÔÓÙfi ·Ó¿ÛÙËÌ· Ì ÙË ¯ÔÚ‹ÁËÛË ·˘ÍËÙÈ΋˜ ÔÚÌfiÓ˘, ÂÓÒ Ë ·ÌËÓfiÚÚÔÈ· Î·È Ë Î·ı˘ÛÙ¤ÚËÛË Ù˘ ÂÓ‹‚ˆÛ˘ ÌÔÚÔ‡Ó Ó· ·ÓÙÈÌÂÙˆÈÛÙÔ‡Ó, ·ÓÙ›ÛÙÔȯ·, Ì ÙË ¯ÔÚ‹ÁËÛË Î·Ù¿ÏÏËÏˆÓ ÔÚÌÔÓÈÎÒÓ Û΢·ÛÌ¿ÙˆÓ. ∞ÎfiÌË ˘¿Ú¯ÂÈ ÚÔÔÙÈ΋ ·ÒÙÂÚ˘ ÂÁ΢ÌÔÛ‡Ó˘ Ì Â͈ۈ̷ÙÈΤ˜ ÌÂıfi‰Ô˘˜ Î·È ¯ÔÚ‹ÁËÛË ˆ·Ú›ˆÓ ·fi ‰fiÙÚÈ·.

∂›Ó·È ÛËÌ·ÓÙÈÎfi Ó· ηٷÓÔ‹ÛÔ˘Ó ÔÈ ÁÔÓ›˜ fiÙÈ Î¿ı ÎÔÚ›ÙÛÈ Ì ۇӉÚÔÌÔ Turner Â›Ó·È ÌÔÓ·‰ÈÎfi Î·È Ú¤ÂÈ Ó· ÌËÓ ·ÓÙÈÌÂÙˆ›˙ÂÙ·È ˆ˜ ·ÛıÂÓ‹˜, ·ÏÏ¿ ·ÓÙ›ıÂÙ· ÌÂ Û˘ÌÂÚÈÊÔÚ¿ Ô˘ Ù·ÈÚÈ¿˙ÂÈ ÛÙËÓ ËÏÈΛ· ÙÔ˘ Î·È fi¯È ÛÙÔ ·Ó¿ÛÙËÌ¿ ÙÔ˘. ∆· ÂÚÈÛÛfiÙÂÚ· ¿ÙÔÌ· Ì ۇӉÚÔÌÔ Turner Â›Ó·È ˘ÁÈ‹, Â˘Ù˘¯‹, ·ÓÂÍ¿ÚÙËÙ· Î·È ·Ú·ÁˆÁÈο ̤ÏË Ù˘ ÎÔÈÓˆÓ›·˜, ÂÓÒ ‰ÂÓ Í¯ˆÚ›˙Ô˘Ó ÛËÌ·ÓÙÈο ·fi Ù· ¿ÙÔÌ· Ô˘ ¤¯Ô˘Ó Ê˘ÛÈÔÏÔÁÈÎfi ηڢfiÙ˘Ô. ∞˘Ùfi ÚÔ¸Ôı¤ÙÂÈ ÙËÓ È·ÙÚÈ΋ Î·È „˘¯ÔÏÔÁÈ΋ ˘ÔÛÙ‹ÚÈÍË, ηıÒ˜ Î·È ÙËÓ ¤ÁηÈÚË ÏËÚÔÊfiÚËÛË Î·È ÂÎ·›‰Â˘Û‹ ÙÔ˘˜. ŸÏ· ˆÊÂÏÔ‡ÓÙ·È ·fi ÙËÓ È·ÙÚÈ΋ Î·È „˘¯ÔÏÔÁÈ΋ ˘ÔÛÙ‹ÚÈÍË, ÙËÓ ¤ÁηÈÚË ÏËÚÔÊfiÚËÛË Î·È ÂÎ·›‰Â˘ÛË. ∞·Ú·›ÙËÙË ÚÔ¸fiıÂÛË Â›Ó·È Ë ÛˆÛÙ‹ ÂÓË̤ڈÛË Î·È Ë Û˘ÓÂÚÁ·Û›· ÙˆÓ ÁÔÓ¤ˆÓ Ì ÙÔÓ ·È‰›·ÙÚÔ, ηıÒ˜ Î·È Ì ÔÌ¿‰· ÂȉÈÎÒÓ: ÁÂÓÂÙÈÛÙ‹, ÂÓ‰ÔÎÚÈÓÔÏfiÁÔ, ηډÈÔÏfiÁÔ Î·È „˘¯ÔÏfiÁÔ. ∂‰Ò Â›Ó·È Ô˘ÛÈ·ÛÙÈ΋ Ë Û˘Ì‚ÔÏ‹ Ù˘ ÁÂÓÂÙÈ΋˜ Û˘Ì‚Ô˘Ï¢ÙÈ΋˜ Ô˘ ·Ú¤¯ÂÙ·È ·fi ÙÔÓ ÎÏÈÓÈÎfi ÁÂÓÂÙÈÛÙ‹ fiÛÔ Î·È Ù˘ ·Ú·ÎÔÏÔ‡ıËÛ˘ ·fi ÙÔÓ ÂȉÈÎfi, ÒÛÙ ӷ ·Ó·Ï¿‚Ô˘Ó ÔÈ ÁÔÓ›˜ ‰Ú·ÛÙÈÎfi ÚfiÏÔ ÛÙËÓ ·ÓÙÈÌÂÙÒÈÛË ÙÔ˘ ·È‰ÈÔ‡ (5). ¢È¢ı‡ÓÛÂȘ ÛÙÔ ‰È·‰›ÎÙ˘Ô ÁÈ· ÂÚÈÛÛfiÙÂÚ˜ ÏËÚÔÊÔڛ˜: ñ http://iatriki-genetiki.med.uoa.gr (∂ıÓÈÎfi & ∫·Ô‰ÈÛÙÚÈ·Îfi ¶·ÓÂÈÛÙ‹ÌÈÔ ∞ıËÓÒÓ, π·ÙÚÈ΋ ™¯ÔÏ‹, ∂ÚÁ·ÛÙ‹ÚÈÔ π·ÙÚÈ΋˜ °ÂÓÂÙÈ΋˜, ¡ÔÛÔÎÔÌÂ›Ô ¶·›‰ˆÓ “∞Á›· ™ÔÊ›·”) ñ www.TurnerSyndrome.ca (Turner’s Syndrome Society) ñ www.turner-syndrome-us.org (Turner Syndrome Society of the United States) ñ www.tss.org.uk (Turner Syndrome Support Society).

µÈ‚ÏÈÔÁÚ·Ê›· 1. Milunsky A. Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment. 5th ed. Baltimore: The Johns Hopkins University Press; 2004.

2. Bondy CA, Turner Syndrome Study Group. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007;92:10-25.

3. Leka SK, Kitsiou-Tzeli S, Kalpini-Mavrou A, Kanavakis E. Short stature and dysmorphology associated with defects in the SHOX gene. Hormones (Athens) 2006;5:107-118.

4. Zinn AR, Ross JL. Critical regions for Turner syndrome phenotypes on the X chromosome. In: Saenger P, Pasquino AM, eds. Optimizing health care for Turner patients in the 21st century. Elsevier; 2000. p. 19-28.

5. ∫›ÙÛÈÔ˘-∆˙¤ÏË ™. ∫·Ù¢ı‡ÓÛÂȘ Î·È ÂÊ·ÚÌÔÁ¤˜ Ù˘ ÁÂÓÂÙÈ΋˜ Û˘Ì‚Ô˘Ï¢ÙÈ΋˜. °ÂÓÂÙÈ΋ ™˘Ì‚Ô˘Ï¢ÙÈ΋. ∂È̤ÏÂÈ·: ∫·Ó·‚¿Î˘ ∂., ∫›ÙÛÈÔ˘-∆˙¤ÏË ™., ∫·Ï›Ó˪·‡ÚÔ˘ ∞. π·ÙÚÈΤ˜ ∂ΉfiÛÂȘ. ¶. Ã. ¶·Û¯·Ï›‰Ë˜; 2005. ÛÂÏ. 21-56. ¶·È‰È·ÙÚÈ΋ 2008;71:235-237

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CASE REPORT

¡ÂÔÁÓfi Ì ۇӉÚÔÌÔ ˘ÔÏ·ÛÙÈ΋˜ ·ÚÈÛÙÂÚ‹˜ ηډȿ˜. ¶ÂÚÈÁÚ·Ê‹ ÂÚ›ÙˆÛ˘ Î·È ·Ó·ÛÎfiËÛË Ù˘ ‚È‚ÏÈÔÁÚ·Ê›·˜ 1 ¡ÂÔÁÓÔÏÔÁÈ΋ ∫ÏÈÓÈ΋ ¶·ÓÂÈÛÙËÌ›Ô˘ ∫Ú‹Ù˘ 2 ¶·È‰ÔηډÈÔÏÔÁÈ΋ ªÔÓ¿‰·, ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋ ¶·ÓÂÈÛÙËÌ›Ô˘ ∫Ú‹Ù˘ AÏÏËÏÔÁÚ·Ê›·: ÃÚÈÛÙ›Ó· °È·ÓÓ·ÎÔÔ‡ÏÔ˘ aligisak@med.uoc.gr ¡ÂÔÁÓÔÏÔÁÈ΋ ∫ÏÈÓÈ΋, ¶·ÓÂÈÛÙ‹ÌÈÔ ∫Ú‹Ù˘

∂. ∫ÔڷοÎË1, π. °ÂÚÌ·Ó¿Î˘2, ∞. ™·‚‚›‰Ô˘1, ∞. ª·ÓÔ˘Ú¿1, ∂. ÷Ù˙ˉ¿ÎË1, ∂. ™·˚Ù¿Î˘1, ª.-∫. ª·ÚÁ¿ÚË1, Ã. °È·ÓÓ·ÎÔÔ‡ÏÔ˘1 ¶ÂÚ›ÏË„Ë: ∆Ô Û‡Ó‰ÚÔÌÔ ˘ÔÏ·ÛÙÈ΋˜ ·ÚÈÛÙÂÚ‹˜ ηډȿ˜ (™À∞∫) ·ÔÙÂÏ› ÔÌ¿‰· ηډȷÎÒÓ ‰˘ÛÏ·ÛÈÒÓ Ô˘ ÂÚÈÏ·Ì‚¿ÓÂÈ: ·) ˘ÔÏ·Û›·/ÛÙ¤ÓˆÛË/·ÙÚËÛ›· Ù˘ ·ÔÚÙÈ΋˜ ‚·Ï‚›‰·˜, ‚) ˘ÔÏ·Û›·/ ·Ô˘Û›· Ù˘ ·ÚÈÛÙÂÚ‹˜ ÎÔÈÏ›·˜ Î·È Á) ˘ÔÏ·Û›· Ù˘ ·ÓÈÔ‡Û·˜ ·ÔÚÙ‹˜. ∏ Û˘Ìو̷ÙÔÏÔÁ›· ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ Ô˘ ·ÚÔ˘ÛÈ¿˙ÂÙ·È Ì¤Û· ÛÙȘ ÚÒÙ˜ 24 Ì 48 ÒÚ˜ ˙ˆ‹˜ Â›Ó·È Û˘Ó‹ıˆ˜ ÌË ÂȉÈ΋ Î·È ··ÈÙÂ›Ù·È Ó· ˘¿Ú¯ÂÈ ˘„ËÏfi˜ ‰Â›ÎÙ˘ ˘Ô„›·˜ ÁÈ· ÙËÓ ¤ÁηÈÚË ‰È¿ÁÓˆÛË Î·È ·ÓÙÈÌÂÙÒÈÛË. ∆· ÙÂÏÂ˘Ù·›· ¯ÚfiÓÈ· Â›Ó·È ÂÊÈÎÙ‹ Ë ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ ˘ÂÚ˯ÔÁÚ·ÊÈο, ÚÈÓ ·fi ÙËÓ 20 ‚‰ÔÌ¿‰· Ù˘ ·ËÛ˘. ∏ ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË ÚÔÛʤÚÂÈ ÙË ‰˘Ó·ÙfiÙËÙ· ÚÔÁÚ·ÌÌ·ÙÈÛÌÔ‡ ÙÔ˘ ÙÔÎÂÙÔ‡ Û ÂÍÂȉÈÎÂ˘Ì¤ÓÔ Î¤ÓÙÚÔ Î·È ÙËÓ ¿ÌÂÛË ·Ú¤Ì‚·ÛË ·fi ÙËÓ ÚÒÙË Ë̤ڷ ˙ˆ‹˜ ÙÔ˘ ÓÂÔÁÓÔ‡, Û˘Ì‚¿ÏÏÔÓÙ·˜ ÛËÌ·ÓÙÈο ÛÙË ‚ÂÏÙ›ˆÛË Ù˘ ¤Î‚·Û˘. ∏ ÓÔÛËÚfiÙËÙ· Î·È Ë ıÓËÛÈÌfiÙËÙ· ÙÔ˘ ™À∞∫ ·Ú·Ì¤ÓÂÈ ·˘ÍË̤ÓË, fï˜ ¤¯ÂÈ ‚ÂÏÙȈı› Ì ÙËÓ ÚfiÔ‰Ô Ù˘ ˘ÂÚ˯ÔηډÈÔÁÚ·ÊÈ΋˜ ‰È¿ÁÓˆÛ˘ Î·È ÙȘ ÂÍÂÏ›ÍÂȘ ÛÙËÓ Î·Ú‰ÈÔ¯ÂÈÚÔ˘ÚÁÈ΋. ¶ÂÚÈÁÚ¿ÊÂÙ·È Ë ÂÚ›ÙˆÛË ÓÂÔÁÓÔ‡ ‰‡Ô ËÌÂÚÒÓ, Ì ۇӉÚÔÌÔ ˘ÔÏ·ÛÙÈ΋˜ ·ÚÈÛÙÂÚ‹˜ ηډȿ˜, Î·È Á›ÓÂÙ·È Û‡ÓÙÔÌË ·Ó·ÛÎfiËÛË ÙˆÓ ÓÂfiÙÂÚˆÓ ‚È‚ÏÈÔÁÚ·ÊÈÎÒÓ ‰Â‰Ô̤ӈÓ.

§¤ÍÂȘ ÎÏÂȉȿ: ™‡Ó‰ÚÔÌÔ ˘ÔÏ·ÛÙÈ΋˜ ·ÚÈÛÙÂÚ‹˜ ηډȿ˜, Û˘ÁÁÂÓ›˜ ηډÈÔ¿ıÂȘ, ÚÔÁÂÓÓËÙÈÎfi˜ ¤ÏÂÁ¯Ô˜.

Hypoplastic left heart syndrome in a neonate. Case report and literature review 1 Department of NeonatÔlogy, University of Crete 2 Paediatric Cardiology Unit, Department of Paediatrics, University of Crete Correspondence: Christina Giannakopoulou aligisak@med.uoc.gr Department of NeonatÔlogy, University of Crete

E. Korakaki1, J. Germanakis2, A. Savvidou1, A. Manoura1, E. Chatzidaki1, E. Saitakis1, K-M. Margari1, C. Giannakopoulou1 Abstract: Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures. The syndrome includes underdevelopment of the left ventricle, aorta and aortic arch, as well as mitral atresia or stenosis. HLHS usually presents in the first 24 to 48 hours of life and its clinical manifestations, like those of other congenital heart diseases, are non-specific, and a high index of suspicion is necessary to make an early diagnosis. Prenatal echocardiography can identify the foetus with HLHS between 18 and 22 weeks of gestation, which may have a favourable impact on the early management and surgical outcome. Although advances in ultrasound diagnosis and surgical techniques have resulted in improved outcome in this group of patients, the mortality and morbidity remain high. The case is presented of a 2 day-old girl with HLHS. The clinical presentation, aetiology, diagnostic evaluation, treatment and long-term outcome of HLHS are reviewed.

Key words: Hypoplastic left heart syndrome, congenital heart disease, prenatal diagnosis.

∂ÈÛ·ÁˆÁ‹ ∆Ô Û‡Ó‰ÚÔÌÔ ˘ÔÏ·ÛÙÈ΋˜ ·ÚÈÛÙÂÚ‹˜ ηډȿ˜ (™À∞∫) ·ÔÙÂÏ› ÔÌ¿‰· ηډȷÎÒÓ ‰˘ÛÏ·ÛÈÒÓ Ì ‰È·ÊfiÚÔ˘ ‚·ıÌÔ‡ ˘ÔÏ·Û›· Ù˘ ·ÚÈÛÙÂÚ‹˜ ÏÂ˘Ú¿˜ Ù˘ ηډȿ˜ (1). ∏ ÚÒÙË ÂÚÈÁÚ·Ê‹ ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ ˘ÔÏ·ÛÙÈ΋˜ ·ÚÈÛÙÂÚ‹˜ ηډȿ˜ ¤ÁÈÓ ·fi ÙÔÓ Lev ÙÔ 1952, Ì ÂÚÈÁÚ·Ê‹ ÙˆÓ ÂÈ̤ÚÔ˘˜ Û˘ÁÁÂÓÒÓ Î·Ú‰È·ÎÒÓ ‰˘ÛÏ·ÛÈÒÓ Ô˘ ÙÔ ¯·Ú·ÎÙËÚ›˙Ô˘Ó, ÂÓÒ Ô fiÚÔ˜ ™À∞∫ ÂÈÛ‹¯ıË ·fi ÙÔ˘˜ Noonan Î·È Nadas ÙÔ 1958 (1). ∏ Â›ÙˆÛË ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ ·Ó·Ê¤ÚÂÙ·È fiÙÈ Â›Ó·È Ì›· ÂÚ›ÙˆÛË ÛÙȘ Paediatriki 2008;71:238-242

4.000 Ì 6.000 ÁÂÓÓ‹ÛÂȘ ˙ÒÓÙˆÓ ÓÂÔÁÓÒÓ (2). ¶ÂÚ›Ô˘ 1.000 ÓÂÔÁÓ¿ Ì ۇӉÚÔÌÔ ·ÚÈÛÙÂÚ‹˜ ˘ÔÏ·ÛÙÈ΋˜ ηډȿ˜ ÁÂÓÓÈÔ‡ÓÙ·È Î¿ı ¯ÚfiÓÔ ÛÙȘ ∏¶∞. ¶·Ú·ÙËÚÂ›Ù·È ˘ÂÚÔ¯‹ ÙˆÓ ·ÁÔÚÈÒÓ Ì ÔÛÔÛÙfi 57-70%. ÀÔÛÙËÚ›˙ÂÙ·È fiÙÈ ÙÔ Û‡Ó‰ÚÔÌÔ ÌÂÙ·‚È‚¿˙ÂÙ·È Ì ·˘ÙÔۈ̷ÙÈÎfi ÂÈÎÚ·ÙÔ‡Ó ‹ ˘ÔÏÂÈfiÌÂÓÔ ¯·Ú·ÎÙ‹Ú·. √ ΛӉ˘ÓÔ˜ ÂÌÊ¿ÓÈÛ˘ ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ Û ÂfiÌÂÓË Î‡ËÛË Â›Ó·È 0,5-3% (1-3). ∆· ÙÂÏÂ˘Ù·›· ¯ÚfiÓÈ· Â›Ó·È ÂÊÈÎÙ‹ Ë ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ ˘ÂÚ˯ÔÁÚ·ÊÈο, ÚÈÓ ·fi ÙËÓ 20 ‚‰ÔÌ¿‰· Ù˘ ·ËÛ˘. ∏

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·239

239

™‡Ó‰ÚÔÌÔ ˘ÔÏ·ÛÙÈ΋˜ ·ÚÈÛÙÂÚ‹˜ ηډȿ˜

ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË ÚÔÛʤÚÂÈ ÙË ‰˘Ó·ÙfiÙËÙ· ¿ÌÂÛ˘ ·Ú¤Ì‚·Û˘ ·fi ÙËÓ ÚÒÙË Ë̤ڷ ˙ˆ‹˜ ÙÔ˘ ÓÂÔÁÓÔ‡, Û˘Ì‚¿ÏÏÔÓÙ·˜ ÛËÌ·ÓÙÈο ÛÙË ‚ÂÏÙ›ˆÛË Ù˘ ¤Î‚·Û˘. ¶ÂÚÈÁÚ¿ÊÂÙ·È ÂÚ›ÙˆÛË ÓÂÔÁÓÔ‡ ‰‡Ô ËÌÂÚÒÓ, Ì ™À∞∫, Î·È Á›ÓÂÙ·È Û‡ÓÙÔÌË ·Ó·ÛÎfiËÛË ÙˆÓ ÓÂfiÙÂÚˆÓ ‚È‚ÏÈÔÁÚ·ÊÈÎÒÓ ‰Â‰ÔÌ¤ÓˆÓ Ô˘ ·ÊÔÚÔ‡Ó ÙËÓ ·ÈÙÈÔ·ıÔÁ¤ÓÂÈ·, ÙËÓ ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË, ÙË ıÂÚ·›· Î·È ÙËÓ ¤Î‚·ÛË.

¶ÂÚÈÁÚ·Ê‹ ÂÚ›ÙˆÛ˘ ¶ÚfiÎÂÈÙ·È ÁÈ· ÓÂÔÁÓfi ı‹Ï˘ Ô˘ ÁÂÓÓ‹ıËΠ̠ËÏÈΛ· ·ËÛ˘ 39 ‚‰ÔÌ¿‰ˆÓ, Î·È ‚¿ÚÔ˜ Á¤ÓÓËÛ˘ 3.160 g, Ì ηÈÛ·ÚÈ΋ ÙÔÌ‹ ÏfiÁˆ ‰˘Û·Ó·ÏÔÁ›·˜, Î·È ÌÂٷʤÚıËΠÛÙË ¡ÂÔÁÓÔÏÔÁÈ΋ ∫ÏÈÓÈ΋ ÙÔ 2Ô 24ˆÚÔ ˙ˆ‹˜, ÏfiÁˆ Ù·¯‡ÓÔÈ·˜ Î·È ÂËÚ·Ṳ̂Ó˘ ÁÂÓÈ΋˜ ηٿÛÙ·Û˘. ∆Ô ÂÚÈÁÂÓÓËÙÈÎfi ÈÛÙÔÚÈÎfi ‹Ù·Ó ÂχıÂÚÔ. ∫·Ù¿ ÙËÓ ÂÈÛ·ÁˆÁ‹ ÙÔ˘ ÙÔ ÓÂÔÁÓfi ‹Ù·Ó Û ÂËÚ·Ṳ̂ÓË ÁÂÓÈ΋ ηٿÛÙ·ÛË Ì ˆ¯ÚfiÙËÙ· Î·È Î˘¿ÓˆÛË ‰¤ÚÌ·ÙÔ˜. ∂›¯Â Ê˘ÛÈÔÏÔÁÈ΋ ıÂÚÌÔÎÚ·Û›· Î·È ·ÚÙËÚȷ΋ ›ÂÛË ¯ˆÚ›˜ ‰È·ÊÔÚ¿ ÛÙ· ¿Óˆ Î·È Î¿Ùˆ ¿ÎÚ·, ÛʇÍÂȘ 140/min, ·Ó·ÓÔ¤˜ 80/min Î·È ‰È·‰ÂÚÌÈÎfi ÎÔÚÂÛÌfi ·ÈÌÔÛÊ·ÈÚ›Ó˘ Û O 2 93%. ¶·ÚÔ˘Û›·˙ ٷ¯‡ÓÔÈ· Ì ηϋ ›ÛÔ‰Ô ·¤Ú· ·ÌÊÔÙÂÚfiÏ¢ڷ, ¯ˆÚ›˜ ·ıÔÏÔÁÈο ·ÎÚÔ·ÛÙÈο Â˘Ú‹Ì·Ù·. ∞fi ÙËÓ ·ÓÙÈÎÂÈÌÂÓÈ΋ ÂͤٷÛË ‰È·ÈÛÙÒıËΠηډȷÎfi Û˘ÛÙÔÏÈÎfi ʇÛËÌ· ¤ÓÙ·Û˘ 2/6, ·ÎÔ˘ÛÙfi Û fiÏÔ ÙÔ ÚÔοډÈÔ, ηıÒ˜ Â›Û˘ Î·È ÛÙËÓ Ï¿ÙË, Ì ̤ÁÈÛÙË ¤ÓÙ·ÛË ÛÙÔ 4Ô ÌÂÛÔχÚÈÔ ‰È¿ÛÙËÌ· ·ÚÈÛÙÂÚ¿. √È Î·Ú‰È·ÎÔ› ÙfiÓÔÈ ‹Ù·Ó ¢ÎÚÈÓ›˜, ÂÓÒ ÔÈ ÛʇÍÂȘ ÙˆÓ ÌËÚÈ·›ˆÓ ·ÚÙËÚÈÒÓ ‹Ù·Ó ·ÛıÂÓÒ˜ „ËÏ·ÊËÙ¤˜ ·ÌÊÔÙÂÚfiÏ¢ڷ. ∞fi Ù· ˘fiÏÔÈ· Û˘ÛÙ‹Ì·Ù· ‰ÂÓ ‰È·ÈÛÙÒıËÎ·Ó ·ıÔÏÔÁÈο Â˘Ú‹Ì·Ù·. ÕÏϘ Û˘ÁÁÂÓ›˜ ·ÓˆÌ·Ï›Â˜ ‰ÂÓ ‹Ù·Ó ÂÌÊ·Ó›˜. ∞fi ÙÔÓ ÂÚÁ·ÛÙËÚÈ·Îfi ¤ÏÂÁ¯Ô ‰ÂÓ ‰È·ÈÛÙÒıËÎ·Ó ·ıÔÏÔÁÈÎÔ› ‰Â›ÎÙ˜ ÊÏÂÁÌÔÓ‹˜. ∆· ·ÔÙÂϤÛÌ·Ù· ÙÔ˘ ‚ÈÔ¯ËÌÈÎÔ‡ ÂϤÁ¯Ô˘ ‹Ù·Ó Ê˘ÛÈÔÏÔÁÈο. ∞fi Ù· ·¤ÚÈ· ·›Ì·ÙÔ˜, pH = 7,37, pO2 = 51,9 mm Hg, pCO2 = 23,1 mm Hg, HCO3 = 13,8 mEq/l, µ∂ = -7 mmol/L. ∏ ·ÎÙÈÓÔÁÚ·Ê›· ıÒÚ·ÎÔ˜ ¤‰ÂÈÍ ηډÈÔÌÂÁ·Ï›·. ∆Ô ˘ÂÚ˯ÔÁÚ¿ÊËÌ· ηډȿ˜ ¤‰ÂÈÍ ˘ÔÏ·ÛÙÈÎfi ·ÚÈÛÙÂÚfi ÎfiÏÔ Ì ¢ڇ ÌÂÛÔÎÔÏÈÎfi ¤ÏÏÂÈÌÌ· Î·È ·ÚÈÛÙÂÚÔ‰ÂÍÈ¿ ‰È·Ê˘Á‹, ÌË ·ÓȯÓ‡ÛÈÌË ·ÚÈÛÙÂÚ¿ ÎÔÈÏ›· Î·È ˘ÔÏ·Û›· ·ÔÚÙÈ΋˜ ‚·Ï‚›‰·˜ (∂ÈÎfiÓ· 1). ªÂ Ù· ·Ú·¿Óˆ Ù˘Èο Â˘Ú‹Ì·Ù· Ù¤ıËÎÂ Ë ‰È¿ÁÓˆÛË ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ ˘ÔÏ·ÛÙÈ΋˜ ·ÚÈÛÙÂÚ‹˜ ηډȿ˜, ¿Ú¯ÈÛ ¿ÌÂÛ· ¯ÔÚ‹ÁËÛË ÚÔÛÙ·ÁÏ·Ó‰›Ó˘ ÛÂ Û˘Ó¯‹ ÂÓ‰ÔÊϤ‚È· ¤Á¯˘ÛË Ì ÚÔ‹ 0,05 mcg/kg/ min Î·È ÙÔ ÓÂÔÁÓfi Ï›Á˜ ÒÚ˜ ÌÂÙ¿ ÙËÓ ÂÈÛ·ÁˆÁ‹ ÙÔ˘ ÌÂٷʤÚıËΠ۠ÂȉÈÎfi ·È‰ÔηډÈÔ¯ÂÈÚÔ˘ÚÁÈÎfi ΤÓÙÚÔ. ∆Ô ÓÂÔÁÓfi η٤ÏËÍ ÚÈÓ ¯ÂÈÚÔ˘ÚÁËı›.

V 2 RV

PV PA

4

AO RA

6

LA

∂ÈÎfiÓ· 1. ¢È·ıˆÚ·ÎÈÎfi ˘ÂÚ˯ÔηډÈÔÁÚ¿ÊËÌ·, ÂÁοÚÛÈ· ÙÔÌ‹ ÛÙÔÓ ÂÈÌ‹ÎË ¿ÍÔÓ· Ù˘ ηډȿ˜, ÛÙÔ Â›Â‰Ô Ù˘ ¤ÎÊ˘Û˘ ÌÂÁ¿ÏˆÓ ·ÁÁ›ˆÓ (ÂÏ·ÊÚ¿ ÙÚÔÔÔÈË̤ÓË ÙÔÌ‹ ÁÈ· ·Ó¿‰ÂÈÍË Î·È ¤ÎÊ˘Û˘ ·ÔÚÙ‹˜ (∞√). ™‡ÁÎÚÈÛË ÌÂÁ¤ıÔ˘˜ ˘ÔÏ·ÛÙÈ΋˜ ·ÔÚÙÈ΋˜ ‚·Ï‚›‰·˜ (0,1 ÂÎ.) Ì ÙËÓ ˘ÔÏ·ÛÙÈ΋ ·ÓÈÔ‡Û· ·ÔÚÙ‹ (∞√), (ÛÙÔ ÎÂÓÙÚÈÎfi ÙÌ‹Ì· Ù˘ ÙÔÌ‹˜). ¢È·ÙÂٷ̤ÓË ‰ÂÍÈ¿ ÎÔÈÏ›· (RV), Ó¢ÌÔÓÈ΋ ‚·Ï‚›‰· (PV) Î·È Ó¢ÌÔÓÈ΋ ·ÚÙËÚ›· (PA) ÂÚÈ‚¿ÏÏÔ˘Ó ·fi ÌÚÔÛÙ¿ (¿Óˆ ÛÙËÓ ÂÈÎfiÓ·) ÙËÓ ¤ÎÊ˘ÛË Ù˘ ˘ÔÏ·ÛÙÈ΋˜ ·ÔÚÙ‹˜. ÀÔÏ·ÛÙÈÎfi˜ ·ÚÈÛÙÂÚfi˜ ÎfiÏÔ˜ ›Ûˆ (LA) Û˘ÁÎÚÈÙÈο Ì ‰È·ÙÂٷ̤ÓÔ ‰ÂÍÈfi (RA) ÎfiÏÔ (·ÚÈÛÙÂÚ¿ ÛÙËÓ ÂÈÎfiÓ·).

™˘˙‹ÙËÛË ∆Ô Û‡Ó‰ÚÔÌÔ ˘ÔÏ·ÛÙÈ΋˜ ·ÚÈÛÙÂÚ‹˜ ηډȿ˜ ·ÔÙÂÏ› ÔÌ¿‰· ηډȷÎÒÓ ‰˘ÛÏ·ÛÈÒÓ Ô˘ ÂÚÈÏ·Ì‚¿ÓÂÈ: ·) ˘ÔÏ·Û›·/ÛÙ¤ÓˆÛË/·ÙÚËÛ›· ·ÔÚÙÈ΋˜ ‚·Ï‚›‰·˜, ‚) ˘ÔÏ·Û›·/·Ô˘Û›· ·ÚÈÛÙÂÚ‹˜ ÎÔÈÏ›·˜ Î·È Á) ˘ÔÏ·Û›· Ù˘ ·ÓÈÔ‡Û·˜ ·ÔÚÙ‹˜. ™ÙȘ ÂÚÈÛÛfiÙÂÚ˜ ÂÚÈÙÒÛÂȘ Û˘Ó˘¿Ú¯ÂÈ ‚·ÚÈ¿ ÛÙ¤ÓˆÛË ‹ ˘ÔÏ·Û›· (60%) ‹ ·ÙÚËÛ›· (40%) Ù˘ ÌÈÙÚÔÂȉԇ˜ ‚·Ï‚›‰·˜. ™·ÓÈfiÙÂÚ·, Û˘Ó˘¿Ú¯ÂÈ ÎÔÈÓ‹ ÎÔÏÔÎÔÈÏȷ΋ ÂÈÎÔÈÓˆÓ›· (16%) (1,2,4). √ ‚·ıÌfi˜ ˘ÔÏ·Û›·˜ Ù˘ ·ÚÈÛÙÂÚ‹˜ ÎÔÈÏ›·˜ Î·È Ù˘ ·ÔÚÙÈ΋˜ ‚·Ï‚›‰·˜ Î·È ÔÈ Û˘Ó˘¿Ú¯Ô˘Û˜ ‰È·Ù·Ú·¯¤˜ ÔÈΛÏÏÔ˘Ó ÌÂٷ͇ ÙˆÓ ·ÛıÂÓÒÓ, Ì ·ÔÙ¤ÏÂÛÌ· ÙË ‰È·ÊÔÚÂÙÈ΋ ‚·Ú‡ÙËÙ· ÂΉ‹ÏˆÛ˘ ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ (1). ∏ ·ÈÙÈÔÏÔÁ›· ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ Â›Ó·È ¿ÁÓˆÛÙË. ¶ÈÛÙ‡ÂÙ·È fiÙÈ Â›Ó·È ·ÔÙ¤ÏÂÛÌ· Ù˘ ·ÓÒÌ·Ï˘ ·Ó¿Ù˘Í˘ ÙˆÓ ÙÌËÌ¿ÙˆÓ Ù˘ ÂÌ‚Ú˘˚΋˜ ηډȿ˜ ηٿ ÙË ‰È¿ÚÎÂÈ· ÙˆÓ ÚÒÙˆÓ 8 ‚‰ÔÌ¿‰ˆÓ Ù˘ ·ËÛ˘, ÏfiÁˆ ·ÏÏÔ›ˆÛ˘ ÌÔÓ‹ÚÔ˘˜ ÁfiÓÔ˘, ¯ÚˆÌÔÛˆÌÈÎÒÓ ·ÓˆÌ·ÏÈÒÓ ‹ ÓÔÛËÚÒÓ Î·Ù·ÛÙ¿ÛÂˆÓ Ù˘ ÌËÙ¤Ú·˜ (1). ™ÙÔ Û‡Ó‰ÚÔÌÔ, Ë Ó¢ÌÔÓÈ΋ ·ÚÙËÚ›· Â›Ó·È ‰È¢ڢṲ̂ÓË, ˘¿Ú¯ÂÈ Â˘Ú‡˜ ·ÓÔÈÎÙfi˜ ·ÚÙËÚÈ·Îfi˜ fiÚÔ˜, ÂÓÒ Ô ·ÚÈÛÙÂÚfi˜ ÎfiÏÔ˜ Â›Ó·È Û˘Ó‹ıˆ˜ ÌÈÎÚfi˜. √È ‰ÂÍȤ˜ ÎÔÈÏfiÙËÙ˜ Ù˘ ηډȿ˜ Â›Ó·È ‰È¢ڢṲ̂Ó˜ Ì ˘ÂÚÙÚÔÊÈÎfi ÙÔ›¯ˆÌ· Î·È Ë ·ÚÈÛÙÂÚ‹ ÎÔÈÏ›· ·Ó·ÙÔÌÈο Û˘Ó‹ıˆ˜ ˘·ÚÎÙ‹, ·ÏÏ¿ ÌË ÏÂÈÙÔ˘ÚÁÈ΋. ∏ ÔÚ›· ÙÔ˘ ·›Ì·ÙÔ˜ Â›Ó·È Ë ÂÍ‹˜: ·fi ÙȘ Ó¢ÌÔÓÈΤ˜ ÊϤ‚˜ ÙÔ ·›Ì· ÂÈÛ¤Ú¯ÂÙ·È ÛÙÔÓ ·ÚÈÛÙÂÚfi ÎfiÏÔ ¶·È‰È·ÙÚÈ΋ 2008;71:238-242

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·240

240

∂. ∫ÔڷοÎË Î·È Û˘Ó.

¶›Ó·Î·˜ 1. ∞›ÙÈ· ΢¿ÓˆÛ˘ ηٿ ÙË ÓÂÔÁÓÈ΋ ÂÚ›Ô‰Ô PDA

AO

PA

LV LA

RA RV

∂ÈÎfiÓ· 2. ™¯ËÌ·ÙÈ΋ ·ÚÔ˘Û›·ÛË ÙˆÓ ·Ó·ÙÔÌÈÎÒÓ ‰ÔÌÒÓ Û ™À∞∫. ¢ÂÍÈfi˜ ÎfiÏÔ˜ (RA), ‰ÂÍÈ¿ ÎÔÈÏ›· (RV), ·ÚÈÛÙÂÚfi˜ ÎfiÏÔ˜ (LA), ·ÚÈÛÙÂÚ‹ ÎÔÈÏ›· (LV). ∞ÓÈÔ‡Û· ·ÔÚÙ‹ (AO), Ó¢ÌÔÓÈ΋ ·ÚÙËÚ›· (PA), ·ÓÔȯÙfi˜ ·ÚÙËÚÈ·Îfi˜ fiÚÔ˜ (PDA).

Î·È ·ÎÔÏÔ‡ıˆ˜ ÛÙÔ ‰ÂÍÈfi ÎfiÏÔ, ̤ۈ ·ÓÔÈÎÙÔ‡ ˆÔÂȉԇ˜ ÙÚ‹Ì·ÙÔ˜ ‹ ·ÓÒÌ·Ï˘ Â΂ÔÏ‹˜ Ó¢ÌÔÓÈ΋˜ ÊϤ‚·˜ ÛÙÔ ‰ÂÍÈfi ÎfiÏÔ. ™˘Ó¯›˙ÂÈ Ë ÚÔ‹ ÙÔ˘ ·›Ì·ÙÔ˜ ·fi ÙË ‰ÂÍÈ¿ ÎÔÈÏ›· ÛÙËÓ Ó¢ÌÔÓÈ΋ ·ÚÙËÚ›·. ª¤Ûˆ ÙÔ˘ ·ÓÔÈÎÙÔ‡ ·ÚÙËÚÈ·ÎÔ‡ fiÚÔ˘ ·Ú·ÙËÚÂ›Ù·È ÚÔ‹ ·›Ì·ÙÔ˜ ·fi ÙËÓ Ó¢ÌÔÓÈ΋ ·ÚÙËÚ›· ÚÔ˜ ÙËÓ Î·ÙÈÔ‡Û· ·ÔÚÙ‹ (∂ÈÎfiÓ· 2). ŒÙÛÈ, Ë Û˘ÛÙËÌ·ÙÈ΋ ΢ÎÏÔÊÔÚ›· ÂÍ·ÚÙ¿Ù·È ·fi ÙÔ ‚·ıÌfi ÂÓ‰ÔÎÔÏÈ΋˜ ‰È·Ê˘Á‹˜ ·ÚÈÛÙÂÚ¿ ÚÔ˜ ‰ÂÍÈ¿ Î·È ·fi ÙÔ ‚·ıÌfi Â͈ηډȷ΋˜ ‰È·Ê˘Á‹˜ ‰ÂÍÈ¿ ÚÔ˜ ·ÚÈÛÙÂÚ¿, ̤ۈ ÙÔ˘ ·ÚÙËÚÈ·ÎÔ‡ fiÚÔ˘. √ ‚·ıÌfi˜ Ù˘ Â͈ηډȷ΋˜ ‰È·Ê˘Á‹˜ ÂÍ·ÚÙ¿Ù·È ·fi ÙȘ Ó¢ÌÔÓÈΤ˜ ·ÓÙÈÛÙ¿ÛÂȘ Î·È ÙËÓ Â·Ú΋ ÏÂÈÙÔ˘ÚÁÈ΋ ÈηÓfiÙËÙ· Ù˘ ‰ÂÍÈ¿˜ ÎÔÈÏ›·˜. √È ·ÈÌÔ‰˘Ó·ÌÈΤ˜ ‰È·Ù·Ú·¯¤˜ Ô˘ ÂÌÊ·Ó›˙ÔÓÙ·È Â›Ó·È Ë ÌË ÈηÓÔÔÈËÙÈ΋ ‰È·Ù‹ÚËÛË Ù˘ Û˘ÛÙËÌ·ÙÈ΋˜ ΢ÎÏÔÊÔÚ›·˜ Î·È Ë Ó¢ÌÔÓÈ΋ ÊÏ‚È΋ ˘¤ÚÙ·ÛË ‹ Ó¢ÌÔÓÈ΋ ˘ÂÚ΢ÎÏÔÊÔÚ›·. ∏ Ù˘¯fiÓ ‡·ÚÍË Â·ÚÎÔ‡˜ ÌÂÛÔÎÔÏÈÎÔ‡ ÂÏÏ›ÌÌ·ÙÔ˜ ·˘Í¿ÓÂÈ ÙËÓ ÚÔÛÊÔÚ¿ Ô͢ÁÔӈ̤ÓÔ˘ ·›Ì·ÙÔ˜ ÚÔ˜ ÙË ‰ÂÍÈ¿ ÎÔÈÏ›· Î·È ¿Ú· ÚÔ˜ ÙË Û˘ÛÙËÌ·ÙÈ΋ ΢ÎÏÔÊÔÚ›·. ¶·Ú¿ÏÏËÏ·, fï˜, ÂÏ·ÙÙÒÓÂÈ ÙËÓ ›ÂÛË ÙÔ˘ ·ÚÈÛÙÂÚÔ‡ ÎfiÏÔ˘ Î·È Ù˘ Ó¢ÌÔÓÈ΋˜ ·ÚÙËÚ›·˜, ¿Ú· Î·È ÙË ÚÔ‹ ̤ۈ ÙÔ˘ ·ÚÙËÚÈ·ÎÔ‡ fiÚÔ˘, Ë ÔÔ›· Â›Ó·È ··Ú·›ÙËÙË ÁÈ· ÙËÓ ÂÈ‚›ˆÛË ÙÔ˘ ¿Û¯ÔÓÙÔ˜ ÓÂÔÁÓÔ‡ (3,5). ∆Ô ™À∞∫ ÂÚÈÏ·Ì‚¿ÓÂÙ·È ÛÙË ‰È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË Ù˘ ΢¿ÓˆÛ˘ ηٿ ÙË ÓÂÔÁÓÈ΋ ÂÚ›Ô‰Ô (¶›Ó·Î·˜ 1). ∆· ÓÂÔÁÓ¿ Ì ™À∞∫ Â›Ó·È Û˘Ó‹ıˆ˜ ÙÂÏÂÈfiÌËÓ· ÌÂ Ê˘ÛÈÔÏÔÁÈÎfi ‚¿ÚÔ˜ Á¤ÓÓËÛ˘. ¶ÚÔˆÚfiÙËÙ· Î·È ¯·ÌËÏfi ‚¿ÚÔ˜ Á¤ÓÓËÛ˘ ÁÈ· ÙËÓ ËÏÈΛ· ·ËÛ˘ ·Ú·ÙËÚÂ›Ù·È Û ÔÛÔÛÙfi 5,5%. ∆Ô ÓÂÔÁÓfi ηٿ ÙË Á¤ÓÓËÛË Î·È ÙȘ ÚÒÙ˜ ÒÚ˜ ˙ˆ‹˜ ‰ÂÓ ·ÚÔ˘ÛÈ¿˙ÂÈ ·ıÔÏÔÁÈο ÎÏÈÓÈο Â˘Ú‹Ì·Ù·, ηıÒ˜, ÏfiÁˆ ÙˆÓ ·˘ÍËÌ¤ÓˆÓ Ó¢ÌÔÓÈÎÒÓ ·ÓÙÈÛÙ¿ÛˆÓ, ÙÔ ·›Ì· ÂÎÙÚ¤ÂÙ·È ·fi ÙÔÓ ·ÚÙËÚÈ·Îfi fiÚÔ ÚÔ˜ ÙËÓ Î·ÙÈÔ‡Û· Paediatriki 2008;71:238-242

¶·ı‹ÛÂȘ ÙÔ˘ ΢ÎÏÔÊÔÚÈÎÔ‡ Û˘ÛÙ‹Ì·ÙÔ˜ ∫˘·ÓˆÙÈ΋ ηډÈÔ¿ıÂÈ· ¶·Ú·Ì¤ÓÔ˘Û· Ó¢ÌÔÓÈ΋ ˘¤ÚÙ·ÛË ™˘ÌÊÔÚËÙÈ΋ ηډȷ΋ ·ÓÂ¿ÚÎÂÈ· ¶·ı‹ÛÂȘ ÙÔ˘ ·Ó·Ó¢ÛÙÈÎÔ‡ Û˘ÛÙ‹Ì·ÙÔ˜ ¡fiÛÔ˜ Ó¢ÌfiÓˆÓ ™‡Ó‰ÚÔÌÔ ·Ó·Ó¢ÛÙÈ΋˜ ‰˘Û¯¤ÚÂÈ·˜ ¶·ÚÔ‰È΋ Ù·¯‡ÓÔÈ· ™‡Ó‰ÚÔÌÔ ÂÈÛÚfiÊËÛ˘ ÌËÎˆÓ›Ô˘ ¶Ó¢ÌÔÓ›· ÀÔÏ·Û›· Ó‡ÌÔÓ· ∞fiÊÚ·ÍË ·Ó·Ó¢ÛÙÈÎÔ‡ ∞ÙÚËÛ›· ‹ ÛÙ¤ÓˆÛË ÚÈÓÈÎÒÓ ¯Ô·ÓÒÓ ª·ÎÚÔÁψÛÛ›· §·Ú˘ÁÁÔ̷ϷΛ· ∞ÁÁÂÈ·Îfi˜ ‰·ÎÙ‡ÏÈÔ˜ ∂͈Ó¢ÌÔÓÈο ·›ÙÈ· ™‡Ó‰ÚÔÌÔ ‰È·Ê˘Á‹˜ ·¤Ú· ™˘ÁÁÂÓ‹˜ ‰È·ÊÚ·ÁÌ·ÙÔ΋ÏË ¢˘ÛϷۛ˜ ıÒڷη ¶·ı‹ÛÂȘ ÙÔ˘ Ó¢ÚÈÎÔ‡ Û˘ÛÙ‹Ì·ÙÔ˜ §ÔÈÌÒÍÂȘ ∂Ó‰ÔÎÚ·Óȷ΋ ·ÈÌÔÚÚ·Á›· ¡Â˘ÚÔÌ˘˚Τ˜ ‰È·Ù·Ú·¯¤˜ ÕÏϘ ‰È·Ù·Ú·¯¤˜ ªÂı·ÈÌÔÛÊ·ÈÚÈÓ·ÈÌ›· ¶ÔÏ˘Î˘ÙÙ·Ú·ÈÌ›· ™Ë„·ÈÌ›· ÀÔÁÏ˘Î·ÈÌ›·

·ÔÚÙ‹ Î·È ¤ÙÛÈ ‰È·ÙËÚÂ›Ù·È Ë Û˘ÛÙËÌ·ÙÈ΋ ΢ÎÏÔÊÔÚ›·. ∏ Û˘Ìو̷ÙÔÏÔÁ›· ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ ·ÚÔ˘ÛÈ¿˙ÂÙ·È ¯·Ú·ÎÙËÚÈÛÙÈο ̤۷ ÛÙȘ ÚÒÙ˜ 24 Ì 48 ÒÚ˜ ˙ˆ‹˜, ÌÂÙ¿ ÙËÓ ÙÒÛË ÙˆÓ Ó¢ÌÔÓÈÎÒÓ ·ÓÙÈÛÙ¿ÛÂˆÓ Î·È ÙÔ ÏÂÈÙÔ˘ÚÁÈÎfi ÎÏ›ÛÈÌÔ ÙÔ˘ ·ÚÙËÚÈ·ÎÔ‡ fiÚÔ˘, Î·È ¤¯ÂÈ ˆ˜ ·ÔÙ¤ÏÂÛÌ· ÙËÓ ·ÚÂÌfi‰ÈÛË Ù˘ ÚÔ‹˜ ÙÔ˘ ·›Ì·ÙÔ˜ ÚÔ˜ ÙËÓ Î·ÙÈÔ‡Û· ·ÔÚÙ‹. ∆Ô ÓÂÔÁÓfi ·ÚÔ˘ÛÈ¿˙ÂÈ ÛËÌÂÈÔÏÔÁ›· ηډȷ΋˜ ·ÓÂ¿ÚÎÂÈ·˜ Ì ٷ¯‡ÓÔÈ·, Ù·¯˘Î·Ú‰›·, ˆ¯ÚfiÙËÙ· Î·È Ùˆ¯‹ ÂÚÈÊÂÚÈ΋ ·ÈÌ¿ÙˆÛË. ∞fi ÙËÓ ·ÎÚfi·ÛË Î·Ú‰È¿˜ ‰È·ÈÛÙÒÓÂÙ·È ¤ÓÙÔÓÔ˜ ‰Â‡ÙÂÚÔ˜ ÙfiÓÔ˜ Î·È Î·Ï·ÛÙÈÎfi˜ Ú˘ıÌfi˜. ªÔÚ› Ó· Â›Ó·È ·ÎÔ˘ÛÙfi ‹ÈÔ ‹ ¿Ù˘Ô Î·Ú‰È·Îfi ʇÛËÌ· (1-5). √È ÂÚÈÊÂÚÈΤ˜ ÛʇÍÂȘ ·Ô˘ÛÈ¿˙Ô˘Ó ‹ Â›Ó·È ·ÛıÂÓ›˜. ™ÙÔ 40% ÙˆÓ ÓÂÔÁÓÒÓ Ì ™À∞∫ ÌÔÚ› Ó· ·Ú·ÙËÚËıÔ‡Ó ‰˘ÛÌÔÚÊÈο ¯·Ú·ÎÙËÚÈÛÙÈο. ∂͈ηډȷΤ˜ ·ÓˆÌ·Ï›Â˜ (ÓÂÊÚ¿, ∫¡™, ‰È·ÊÚ·ÁÌ·ÙÔ΋ÏË, ÔÌÊ·ÏÔ΋ÏË, ˘ÔÛ·‰›·˜) ·Ú·ÙËÚÔ‡ÓÙ·È Û ÔÛÔÛÙfi 12% (6). ∂›Û˘, ÙÔ ™À∞∫ ÂÌÊ·Ó›˙ÂÙ·È Ì ·˘ÍË̤ÓË Û˘¯ÓfiÙËÙ· Û ÓÂÔÁÓ¿ Ì ¯ÚˆÌÔÛˆÌÈΤ˜ ·ÓˆÌ·Ï›Â˜ (1,2). ∏ ·ÎÙÈÓÔÁÚ·Ê›· ıÒÚ·ÎÔ˜ ‰Â›¯ÓÂÈ ÌÂÁ·ÏÔηډ›·

Pediatri May-Jun 08

23-05-08

15:57

™ÂÏ›‰·241

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™‡Ó‰ÚÔÌÔ ˘ÔÏ·ÛÙÈ΋˜ ·ÚÈÛÙÂÚ‹˜ ηډȿ˜

Î·È ÔÈΛÏÔ˘ ‚·ıÌÔ‡ Ó¢ÌÔÓÈ΋ ˘ÂÚ·ÈÌ›·. ™ÙÔ ËÏÂÎÙÚÔηډÈÔÁÚ¿ÊËÌ· ·Ú·ÙËÚÂ›Ù·È ˘ÂÚÙÚÔÊ›· ‰ÂÍÈ¿˜ ÎÔÈÏ›·˜. À¿Ú¯ÂÈ Ì¤ÙÚÈ· ˘ÔÍ·ÈÌ›· Î·È ÌÂÙ·‚ÔÏÈ΋ ÔͤˆÛË, Ë ÔÔ›· ÂȉÂÈÓÒÓÂÙ·È ÚÔԉ¢ÙÈο ·Ó ‰ÂÓ ˘¿ÚÍÂÈ ¤ÁηÈÚË Î·È Â·Ú΋˜ ·ÓÙÈÌÂÙÒÈÛË. ∏ ‰È¿ÁÓˆÛË ÂȂ‚·ÈÒÓÂÙ·È Ì ÙÔ ˘ÂÚ˯ÔÁÚ¿ÊËÌ· ηډȿ˜. √ ηډȷÎfi˜ ηıÂÙËÚÈ·ÛÌfi˜ Î·È Ë ·ÁÁÂÈÔÁÚ·Ê›· ‰ÂÓ Â›Ó·È ··Ú·›ÙËÙ· ÁÈ· ÙË ‰È¿ÁÓˆÛË (1-3). ∂›Û˘, ÛÙ· ÓÂÔÁÓ¿ ·˘Ù¿ Ú¤ÂÈ Ó· Á›ÓÂÙ·È Î·Ú˘fiÙ˘Ô˜ (2). ∏ ·ÓÙÈÌÂÙÒÈÛË ÂÚÈÏ·Ì‚¿ÓÂÈ ÙË ¯ÂÈÚÔ˘ÚÁÈ΋ ıÂÚ·›· Î·È ÙË ÌÂÙ·ÌfiÛ¯Â˘ÛË Î·Ú‰È¿˜ (7). ¶ÚÔÂÁ¯ÂÈÚËÙÈο, Â›Ó·È ÛËÌ·ÓÙÈ΋ Ë ÚfiÏË„Ë Ù˘ ˘ÔıÂÚÌ›·˜ Î·È Ë ‰ÈfiÚıˆÛË Ù˘ oͤˆÛ˘ Î·È Ù˘ ˘ÔÁÏ˘Î·ÈÌ›·˜. ∏ ‰È·Ù‹ÚËÛË ·ÓÔȯÙÔ‡ ·ÚÙËÚÈ·ÎÔ‡ fiÚÔ˘ Ì ÙË ¯ÔÚ‹ÁËÛË ÚÔÛÙ·ÁÏ·Ó‰›Ó˘ Â›Ó·È Î·ıÔÚÈÛÙÈ΋ ÁÈ· ÙËÓ ÚfiÁÓˆÛË (7,8). ∂›Û˘, Â›Ó·È ÛËÌ·ÓÙÈ΋ Ë Ú‡ıÌÈÛË Ù˘ Ó¢ÌÔÓÈ΋˜ ·ÈÌ·ÙÈ΋˜ ÚÔ‹˜, ̤ۈ Ù˘ Ú‡ıÌÈÛ˘ Ù˘ Û˘ÁΤÓÙÚˆÛ˘ ÙÔ˘ ¯ÔÚËÁÔ‡ÌÂÓÔ˘ Ô͢ÁfiÓÔ˘ (7). ∏ ¯ÂÈÚÔ˘ÚÁÈ΋ ·ÓÙÈÌÂÙÒÈÛË Á›ÓÂÙ·È Û 3 ÛÙ¿‰È· (4,7,9). ∆Ô ÚÒÙÔ ÛÙ¿‰ÈÔ ÂÚÈÏ·Ì‚¿ÓÂÈ ÙËÓ ·ÚËÁÔÚËÙÈ΋ Â¤Ì‚·ÛË Norwood, Ì ¯Ú‹ÛË Î·Ú‰ÈÔ·ÁÁÂÈ·ÎÒÓ ÈÛÙÒÓ, Î·È Ú·ÁÌ·ÙÔÔÈÂ›Ù·È ÙȘ ‰‡Ô ÚÒÙ˜ ‚‰ÔÌ¿‰Â˜ ˙ˆ‹˜. ¶ÂÚÈÏ·Ì‚¿ÓÂÈ ÂÎÙÔÌ‹ ÙÔ˘ ÌÂÛÔÎÔÏÈÎÔ‡ ‰È·ÊÚ¿ÁÌ·ÙÔ˜ Î·È ‰È·ÙÔÌ‹ Î·È ÂÚ›‰ÂÛË ÙÔ˘ ÂÚÈÊÂÚÈÎÔ‡ ÙÌ‹Ì·ÙÔ˜ Ù˘ ÎÂÓÙÚÈ΋˜ Ó¢ÌÔÓÈ΋˜ ·ÚÙËÚ›·˜. ∆Ô ÂÁÁ‡˜ ÙÌ‹Ì· Ù˘ Ó¢ÌÔÓÈ΋˜ ·ÚÙËÚ›·˜ Û˘Ó‰¤ÂÙ·È ÚÔ˜ ÙËÓ ·ÔÚÙ‹ Î·È ‰ÈÔÚıÒÓÂÙ·È ÙÔ ÙÌ‹Ì· Ì ÙËÓ ÈÛıÌÈ΋ ÛÙ¤ÓˆÛË Ù˘ ·ÔÚÙ‹˜. ŒÓ· Û˘ÓıÂÙÈÎfi shunt (ÙÚÔÔÔÈË̤ÓÔ Blalock-Taussing shunt) ÙÔÔıÂÙÂ›Ù·È Û˘Ó‹ıˆ˜ ÌÂٷ͇ ‰ÂÍÈ¿˜ ˘ÔÎÏ›‰ÈÔ˘ Î·È ‰ÂÍÈ¿˜ Ó¢ÌÔÓÈ΋˜ ·ÚÙËÚ›·˜. ∏ ‰ÂÍÈ¿ ÎÔÈÏ›· ÏÂÈÙÔ˘ÚÁ› ˆ˜ ·ÓÙÏ›· ÁÈ· fiÏÔ ÙÔ ˘fiÏÔÈÔ ÛÒÌ·. ∏ Â¤Ì‚·ÛË Û˘Óԉ‡ÂÙ·È Ì ·˘ÍË̤ÓË ıÓËÛÈÌfiÙËÙ·. ∆Ô ÔÛÔÛÙfi ÂÈ‚›ˆÛ˘ ÌÂÙ¿ ÙÔ ÛÙ¿‰ÈÔ ·˘Ùfi ¤¯ÂÈ ‚ÂÏÙȈı› Û ۇÁÎÚÈÛË Ì ÙËÓ ÚÔËÁÔ‡ÌÂÓË 20ÂÙ›· Î·È ÊÙ¿ÓÂÈ ÙÔ 70%-80%. ™Â ÔÚÈṲ̂ӷ ΤÓÙÚ·, ηٿ ÙÔ ÚÒÙÔ ÛÙ¿‰ÈÔ, ÂÊ·ÚÌfi˙ÂÙ·È Ë ÙÚÔÔÔÈË̤ÓË Â¤Ì‚·ÛË Sano. ∆· ¿ÏÏ· ‰‡Ô ÛÙ¿‰È· Ù˘ ¯ÂÈÚÔ˘ÚÁÈ΋˜ ·ÔηٿÛÙ·Û˘ ÂÚÈÏ·Ì‚¿ÓÔ˘Ó ÙËÓ Â¤Ì‚·ÛË Glenn Î·È ÙËÓ Â¤Ì‚·ÛË Fontan Î·È Ú·ÁÌ·ÙÔÔÈÔ‡ÓÙ·È Û ËÏÈΛ· 4-6 Î·È 18-36 ÌËÓÒÓ, ·ÓÙ›ÛÙÔȯ·. ∫·Ù¿ ÙÔ ‰Â‡ÙÂÚÔ ÛÙ¿‰ÈÔ, Á›ÓÂÙ·È ·Ó·ÛÙfïÛË Ù˘ ¿Óˆ ÎÔ›Ï˘ ÊϤ‚·˜ Ì ÙËÓ Ó¢ÌÔÓÈ΋ ·ÚÙËÚ›·. ¶·Ú·Ì¤ÓÂÈ ·ÎfiÌË Ë ·Ó¿ÌÂÈÍË ÙˆÓ ‰˘Ô ΢ÎÏÔÊÔÚÈÒÓ (9,10-16). ∫·Ù¿ ÙÔ ÙÂÏÈÎfi ÛÙ¿‰ÈÔ (Â¤Ì‚·ÛË Fontan), Ë Î¿Ùˆ ÎÔ›ÏË ÊϤ‚· Û˘Ó‰¤ÂÙ·È Ì ÙËÓ Ó¢ÌÔÓÈ΋ ·ÚÙËÚ›· Î·È Î·Ù’ ·˘Ùfi ÙÔÓ ÙÚfiÔ Á›ÓÂÙ·È ‰È·¯ˆÚÈÛÌfi˜ Ù˘ Ó¢ÌÔÓÈ΋˜ Î·È Ù˘ Û˘ÛÙËÌ·ÙÈ΋˜ ΢ÎÏÔÊÔÚ›·˜. ∏ ÚÔ‹ ÙÔ˘ ·›Ì·ÙÔ˜ ·fi ÙȘ ¿Óˆ Î·È Î¿Ùˆ ÎԛϘ ÊϤ‚˜ ÂÈÛ¤Ú¯ÂÙ·È ÛÙÔ˘˜ Ó‡ÌÔÓ˜, ̤ۈ Ù˘ Ó¢ÌÔÓÈ΋˜ ·Ú-

ÙËÚ›·˜, ·Ú·Î¿ÌÙÔÓÙ·˜ ÙË ‰ÂÍÈ¿ ÎÔÈÏ›·. ∏ ‰ÂÍÈ¿ ÎÔÈÏ›· ÏÂÈÙÔ˘ÚÁ› ˆ˜ ·ÓÙÏ›· ÁÈ· fiÏÔ ÙÔ ˘fiÏÔÈÔ ÛÒÌ· (4,7,9,11,14). ∏ ÌÂÙ·ÌfiÛ¯Â˘ÛË Î·Ú‰È¿˜ ·ÔÙÂÏ› ÂÓ·ÏÏ·ÎÙÈ΋ ıÂÚ·›· ›Ù ÛÙËÓ ¿ÌÂÛË ÓÂÔÁÓÈ΋ ÂÚ›Ô‰Ô, ·ÔʇÁÔÓÙ·˜ ÙÔ ÛÙ¿‰ÈÔ 1 Ù˘ ‰È·‰Èηۛ·˜ Norwood, ›Ù ¤ÂÈÙ· ·fi ¤Ó· ÂÈÙ˘¯Ë̤ÓÔ ÛÙ¿‰ÈÔ 1. ∏ ÂÓÙ·ÂÙ‹˜ ÂÈ‚›ˆÛË ÌÂÙ¿ ÙË ÌÂÙ·ÌfiÛ¯Â˘ÛË Â›Ó·È 75%. ∆Ô 76% ÙˆÓ ı·Ó¿ÙˆÓ ÌÂÙ¿ ÙË ÌÂÙ·ÌfiÛ¯Â˘ÛË Û˘Ì‚·›ÓÔ˘Ó ÙÔ˘˜ ÚÒÙÔ˘˜ 3 Ì‹Ó˜ Î·È ÙÔ 54% ÙȘ ÚÒÙ˜ 30 Ë̤Ú˜ (12,15). ŸÌˆ˜, ËÌÂÙ·ÌfiÛ¯Â˘ÛË Î·Ú‰È¿˜ ·ÚÔ˘ÛÈ¿˙ÂÈ ‰˘ÛÎÔϛ˜, ÏfiÁˆ Ù˘ ¤ÏÏÂȄ˘ ηٿÏÏËÏÔ˘ ÌÔۯ‡̷ÙÔ˜ ÁÈ· ÓÂÔÁÓ¿ Î·È Ù˘ Ú·ÁÌ·ÙÔÔ›ËÛ‹˜ Ù˘ ÌfiÓÔ Û ÂÍÂȉÈÎÂ˘Ì¤Ó· ΤÓÙÚ·. ∂›Û˘, ˘¿Ú¯ÂÈ Ô Î›Ó‰˘ÓÔ˜ ·fiÚÚȄ˘ ÙÔ˘ ÌÔۯ‡̷ÙÔ˜ Î·È ÏÔÈÌÒÍÂˆÓ ˆ˜ ·fiÙÔÎÔ˜ Ù˘ ÌfiÓÈÌ˘ ·ÓÔÛÔηٷÛÙ·ÏÙÈ΋˜ ıÂÚ·›·˜ (17). ∏ ÚfiÁÓˆÛË Ù˘ ÓfiÛÔ˘ ¤¯ÂÈ ‚ÂÏÙȈı› Ì ÙËÓ ÚfiÔ‰Ô Ù˘ ¯ÂÈÚÔ˘ÚÁÈ΋˜, ·ÚfiÏ· ·˘Ù¿ Ë ÓÔÛËÚfiÙËÙ· Î·È Ë ıÓËÛÈÌfiÙËÙ· ·Ú·Ì¤ÓÔ˘Ó ·˘ÍË̤Ó˜ (9). ∂È‚·Ú˘ÓÙÈÎÔ› ·Ú¿ÁÔÓÙ˜, ÔÈ ÔÔ›ÔÈ ¤¯Ô˘Ó Û˘Û¯ÂÙÈÛÙ› Ì ‰˘ÛÌÂÓ‹ Ì·ÎÚÔÚfiıÂÛÌË ÚfiÁÓˆÛË ÙˆÓ ·È‰ÈÒÓ Ì ™À∞∫, Â›Ó·È Ë ËÏÈΛ· ·ËÛ˘ <35 ‚‰ÔÌ¿‰ˆÓ, ÙÔ ‚¿ÚÔ˜ Á¤ÓÓËÛ˘ <2,5 kg, Ë ÔͤˆÛË Î·Ù¿ ÙË ‰È¿ÁÓˆÛË Î·È Ë ¯ÂÈÚÔ˘ÚÁÈ΋ ·ÓÙÈÌÂÙÒÈÛË ÌÂÙ¿ ÙÔÓ ÚÒÙÔ Ì‹Ó· ˙ˆ‹˜ (1,4,5). ∏ Û˘ÓÔÏÈ΋ ıÓËÛÈÌfiÙËÙ· Î·È ÁÈ· ÙȘ ‰‡Ô ÂÂÌ‚¿ÛÂȘ Â›Ó·È ˘„ËÏ‹ Ì ÔÛÔÛÙfi Ô˘ ·Ó¤Ú¯ÂÙ·È Û 52% (18). ∏ ÓÔÛËÚfiÙËÙ· Â›Ó·È Â›Û˘ ·˘ÍË̤ÓË Î·È ÔÊ›ÏÂÙ·È Û ˘ÔÙÚÔ‹ Ù˘ ·ÔÚÙÈ΋˜ ÛÙ¤ÓˆÛ˘, ·ÓÂ¿ÚÎÂÈ· ÙˆÓ ÎÔÏÔÎÔÈÏÈ·ÎÒÓ ‚·Ï‚›‰ˆÓ Î·È ‰˘ÛÏÂÈÙÔ˘ÚÁ›· ÙÔ˘ ÊÏ‚fiÎÔÌ‚Ô˘. ™Â ÌÂÁ·Ï‡ÙÂÚË ËÏÈΛ· ÌÔÚ› Ó· Â›Ó·È ·Ó·Áη›· Ë ÙÔÔı¤ÙËÛË ‚ËÌ·ÙÔ‰fiÙË ‹ Ë ÌÂÙ·ÌfiÛ¯Â˘ÛË Î·Ú‰È¿˜. ∂›Û˘, Ù· ·È‰È¿ ·˘Ù¿ Û˘¯Ó¿ ·ÚÔ˘ÛÈ¿˙Ô˘Ó Ó¢ÚÔ·Ó·Ù˘Íȷο ÚÔ‚Ï‹Ì·Ù·, Ô˘ ¤¯Ô˘Ó Û¯¤ÛË Ì ÙȘ ÔÏÏ·Ϥ˜ ¯ÂÈÚÔ˘ÚÁÈΤ˜ ÂÂÌ‚¿ÛÂȘ ÛÙȘ Ôԛ˜ ˘Ô‚¿ÏÏÔÓÙ·È Î·È ÙËÓ ·Ú·ÌÔÓ‹ ÙÔ˘˜ ÛÙÔ ÓÔÛÔÎÔÌÂ›Ô ÁÈ· ÌÂÁ¿ÏÔ ¯ÚÔÓÈÎfi ‰È¿ÛÙËÌ·. ∆· ÙÂÏÂ˘Ù·›· ¯ÚfiÓÈ· Â›Ó·È ÂÊÈÎÙ‹ Ë ÚÔÁÂÓÓËÙÈ΋ ˘ÂÚ˯ÔÁÚ·ÊÈ΋ ‰È¿ÁÓˆÛË ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘. ∏ ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË ·Ú¤¯ÂÈ ÛÙÔ˘˜ ÁÔÓ›˜ ÙË ‰˘Ó·ÙfiÙËÙ· Ó· ÂÓËÌÂÚˆıÔ‡Ó ¤ÁηÈÚ· Î·È Ó· ÂÈϤÍÔ˘Ó Â›Ù ‰È·ÎÔ‹ Ù˘ ·ËÛ˘ ›Ù ÙË Û˘Ó¤¯ÈÛ‹ Ù˘ (7,9,19). ∂›Û˘, Ë ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË Â›Ó·È ÛËÌ·ÓÙÈ΋, ηıÒ˜ ÚÔÛʤÚÂÈ ÙË ‰˘Ó·ÙfiÙËÙ· ÚÔÁÚ·ÌÌ·ÙÈÛÌÔ‡ ÙÔ˘ ÙÔÎÂÙÔ‡ Û ÂÍÂȉÈÎÂ˘Ì¤ÓÔ Î¤ÓÙÚÔ Î·È ¿ÌÂÛ˘ ·Ú¤Ì‚·Û˘ ·fi ÙȘ ÚÒÙ˜ ÒÚ˜ ˙ˆ‹˜ ÙÔ˘ ÓÂÔÁÓÔ‡ Ì ¯ÔÚ‹ÁËÛË ÚÔÛÙ·ÁÏ·Ó‰›Ó˘ Î·È ÂÓÙ·ÙÈ΋ ·Ú·ÎÔÏÔ‡ıËÛË. ∞fi ÌÂϤÙ˜ ¤¯ÂÈ ‰È·ÈÛÙˆı› ¯·ÌËÏfiÙÂÚË Â›ÙˆÛË ÌÂÙ·‚ÔÏÈ΋˜ ÔͤˆÛ˘ Î·È Î·Ú‰È·Î‹˜ ·ÓÂ¿ÚÎÂÈ·˜ Û ÂÚÈÙÒÛÂȘ ÓÂÔÁÓÒÓ fiÔ˘ Ë ‰È¿ÁÓˆÛË Â›¯Â ÙÂı› ÚÔÁÂÓÓËÙÈο, Û ۯ¤ÛË Ì ÂΛ¶·È‰È·ÙÚÈ΋ 2008;71:238-242

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∂. ∫ÔڷοÎË Î·È Û˘Ó.

Ó˜ ÙȘ ÂÚÈÙÒÛÂȘ fiÔ˘ Ë ‰È¿ÁÓˆÛË Ù¤ıËΠÌÂÙ¿ ÙË Á¤ÓÓËÛË, ηıÒ˜ Î·È ‚ÂÏÙ›ˆÛË Ù˘ Ì·ÎÚÔÚfiıÂÛÌ˘ Ó¢ÚÔÏÔÁÈ΋˜ ¤Î‚·Û˘ (20). ™˘ÌÂÚ·ÛÌ·ÙÈο, ηٿ ÙË ‰È¿ÚÎÂÈ· Ù˘ ÙÂÏÂ˘Ù·›·˜ ÂÈÎÔÛ·ÂÙ›·˜, Ë ÂÓÙ˘ˆÛȷ΋ ÚfiÔ‰Ô˜ Ù˘ ˘ÂÚ˯ÔηډÈÔÁÚ·ÊÈ΋˜ ‰È¿ÁÓˆÛ˘, ·ÎfiÌ· Î·È ÚÔÁÂÓÓËÙÈο, Î·È ÔÈ ÂÍÂÏ›ÍÂȘ ÛÙËÓ Î·Ú‰ÈÔ¯ÂÈÚÔ˘ÚÁÈ΋ ¤¯Ô˘Ó Ô‰ËÁ‹ÛÂÈ Û ‚ÂÏÙ›ˆÛË Ù˘ ÚfiÁÓˆÛ˘ ÙˆÓ ÓÂÔÁÓÒÓ Ì ۇӉÚÔÌÔ ˘ÔÏ·ÛÙÈ΋˜ ·ÚÈÛÙÂÚ‹˜ ηډȿ˜. ¶·Ú¿ Ù·‡Ù·, ·ÚÎÂÙ¿ ¿Û¯ÔÓÙ· ÓÂÔÁÓ¿ ÛÙÂÚÔ‡ÓÙ·È ÙˆÓ Â˘ÂÚÁÂÙËÌ¿ÙˆÓ Ù˘ ÚÔfi‰Ô˘ ·˘Ù‹˜, ÏfiÁˆ ηı˘ÛÙ¤ÚËÛ˘ Ù˘ ‰È¿ÁÓˆÛ˘. ∏ ¤ÁηÈÚË ·Ó·ÁÓÒÚÈÛË ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ Â›Ó·È ¤Ó· ‰‡ÛÎÔÏÔ ¤ÚÁÔ, ÂÍ·ÈÙ›·˜ Ù˘ ¿Ù˘˘ ÎÏÈÓÈ΋˜ ÂÈÎfiÓ·˜. ∏ ÚÔÁÂÓÓËÙÈ΋ ˘ÂÚ˯ÔÁÚ·ÊÈ΋ ‰È¿ÁÓˆÛË Û˘Ì‚¿ÏÏÂÈ ÛËÌ·ÓÙÈο ÛÙË ‚ÂÏÙ›ˆÛË Ù˘ ÚfiÁÓˆÛ˘.

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16. Ungerleider RM, Shen I, Yeh T, Schultz J, Butler R, Silberbach M, et al. Routine mechanical ventricular assist following the Norwood procedure -- improved neurologic outcome and excellent hospital survival. Ann Thorac Surg 2004; 77:18-22.

17. Gandhi SK, Canter CE, Kulikowska A, Huddleston CB. Infant heart transplantation ten years later -- where are they now? Ann Thorac Surg 2007;83:169-171.

18. Creighton DE, Robertson CM, Sauve RS, Moddemann DM, Alton GY, Nettel-Aguirre A, et al. Neurocognitive, functional, and health outcomes at 5 years of age for children after complex cardiac surgery at 6 weeks of age or younger. Pediatrics 2007;120:e478-e486.

19. Renella P, Chang RK, Ferry DA, Bart RD, Sklansky MS. Hypoplastic left heart syndrome: attitudes among pediatric residents and nurses toward fetal and neonatal management. Prenat Diagn 2007;27:1045-1055.

20. Mahle WT, Clancy RR, McGaurn SP, Goin JE, Clark BJ. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics 2001;107:1277-1282.

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∂¡¢π∞º∂ƒ√À™∞ ¶∂ƒπ¶∆ø™∏

CASE REPORT

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¡fiÛÔ˜ ÙˆÓ Kikuchi-Fujimoto ‹ πÛÙÈÔ΢ÙÙ·ÚÈ΋ ¡ÂÎÚˆÙÈ΋ §ÂÌÊ·‰ÂÓ›Ùȉ·. ¶ÂÚÈÁÚ·Ê‹ ÂÚ›ÙˆÛ˘ Î·È ·Ó·ÛÎfiËÛË Ù˘ ‚È‚ÏÈÔÁÚ·Ê›·˜ ∂. π. ÃÚÈÛÙÈ·Ó¿Î˘1, ∫. ¶··ÓÙ˙›Ì·˜2, °. ∆·¿ÎË2, ¡. ª˘ÚÈÔÎÂÊ·ÏÈÙ¿Î˘2 ¶ÂÚ›ÏË„Ë: ∏ ÓfiÛÔ˜ ÙˆÓ Kikuchi-Fujimoto ‹ ÈÛÙÈÔ΢ÙÙ·ÚÈ΋ ÓÂÎÚˆÙÈ΋ ÏÂÌÊ·‰ÂÓ›Ùȉ· Â›Ó·È Ì›· Û¯ÂÙÈο Û¿ÓÈ· ·˘ÙÔ˚¿ÛÈÌË ÓfiÛÔ˜, ¿ÁÓˆÛÙ˘ ·ÈÙÈÔÏÔÁ›·˜ Î·È ÚÔÛ‚¿ÏÏÂÈ Ó·ڿ ¿ÙÔÌ·. ∫ÏÈÓÈο ÂΉËÏÒÓÂÙ·È Ì ÏÂÌÊ·‰ÂÓÔ¿ıÂÈ·, ΢ڛˆ˜ ÙÔ˘ ÙÚ·¯‹ÏÔ˘ (70-90%), ·ÏÏ¿ Î·È ¿ÏÏˆÓ ÂÚÈÔ¯ÒÓ ÙÔ˘ ÛÒÌ·ÙÔ˜ Î·È Û˘Óԉ‡ÂÙ·È Ì ˘ÚÂÙfi (50% ÙˆÓ ÂÚÈÙÒÛˆÓ). ™˘ÓÔ‰¿ Û˘ÌÙÒÌ·Ù· Â›Ó·È Ë ·ÓÔÚÂÍ›·, Ë Ó·˘Ù›·, Ë ·ÒÏÂÈ· ‚¿ÚÔ˘˜, ÔÈ ·ÚıÚ·ÏÁ›Â˜, ÔÈ Ì˘·ÏÁ›Â˜, Ù· ‰ÂÚÌ·ÙÈο ÂÍ·Óı‹Ì·Ù· Î·È ÔÈ Ó˘¯ÙÂÚÈÓÔ› ȉÚÒÙ˜. ∂ÚÁ·ÛÙËÚȷο ‰È·ÈÛÙÒÓÂÙ·È Ï¢ÎÔÂÓ›· Î·È ıÚÔÌ‚Ô΢ÙÙ·ÚÔÂÓ›·. ∏ ‰È¿ÁÓˆÛË ÙÂÎÌËÚÈÒÓÂÙ·È ·fi Ù· ·ıÔÏÔÁÔ·Ó·ÙÔÌÈο Â˘Ú‹Ì·Ù· Ô˘ ¯·Ú·ÎÙËÚ›˙ÔÓÙ·È ·fi ÙËÓ ·ÚÔ˘Û›· ÓÂÎÚˆÙÈÎÒÓ ÂÚÈÔ¯ÒÓ, fiÔ˘ ·Ó¢ڛÛÎÔÓÙ·È Û˘¯ÓfiÙÂÚ· ˈÛÈÓfiÊÈÏ·, ÌÂ Û˘ÓÔ‰fi Ï‹ÚË ·Ô˘Û›· ÔÏ˘ÌÔÚÊÔ‡ÚËÓˆÓ Î·È ·ıÚÔ›ÛÌ·Ù· ∆-ÏÂÌÊÔ΢ÙÙ¿ÚˆÓ Ì ÂÍˆÎ˘ÙÙ·ÚÈ΋ ηڢÔÚÚËÍ›· Î·È ËÌÈÛÂÏËÓÔÂȉ‹ ÌÔÚÊÔÏÔÁ›·. ∏ ‰È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË ÂÚÈÏ·Ì‚¿ÓÂÈ Î˘Ú›ˆ˜ ÙȘ ÈÔÁÂÓ›˜ Î·È ‚·ÎÙËÚȉȷΤ˜ ÏÔÈÌÒÍÂȘ. ¶ÂÚÈÁÚ¿ÊÂÙ·È Ë ÂÚ›ÙˆÛË ·ÁÔÚÈÔ‡ Ì fiÏ· Ù· ÎÚÈÙ‹ÚÈ· Ù˘ ÓfiÛÔ˘, Ô˘ ‰ÈÂÚ¢ӋıËΠÏfiÁˆ Â›ÌÔÓÔ˘ ˘ÚÂÙÔ‡, ÏÂÌÊ·‰ÂÓ›Ùȉ·˜ Î·È ÂÍ·Óı‹Ì·ÙÔ˜.

1 ¶·È‰Ô¯ÂÈÚÔ˘ÚÁÈÎfi ∆Ì‹Ì· °ÂÓÈÎÔ‡ ¡ÔÛÔÎÔÌ›Ԣ ¶·›‰ˆÓ ¶ÂÓÙ¤Ï˘, ¶·Ï·È¿ ¶ÂÓÙ¤ÏË, ∞ı‹Ó· 2 ∞’ ¶·È‰È·ÙÚÈÎfi ∆Ì‹Ì· °ÂÓÈÎÔ‡ ¡ÔÛÔÎÔÌ›Ԣ ¶·›‰ˆÓ ¶ÂÓÙ¤Ï˘, ¶·Ï·È¿ ¶ÂÓÙ¤ÏË, ∞ı‹Ó· AÏÏËÏÔÁÚ·Ê›·: ∂˘ÛÙÚ¿ÙÈÔ˜ πˆÛ. ÃÚÈÛÙÈ·Ó¿Î˘ xristianakis@in.gr ¶·È‰Ô¯ÂÈÚÔ˘ÚÁÈÎfi ∆Ì‹Ì· °ÂÓÈÎÔ‡ ¡ÔÛÔÎÔÌ›Ԣ ¶·›‰ˆÓ ¶ÂÓÙ¤Ï˘, ¶·Ï·È¿ ¶ÂÓÙ¤ÏË, ∞ı‹Ó·

§¤ÍÂȘ ÎÏÂȉȿ: §ÂÌÊ·‰ÂÓÔ¿ıÂÈ·, ÓfiÛÔ˜ Kikuchi-Fujimoto, ÓÂÎÚˆÙÈ΋ ÏÂÌÊ·‰ÂÓ›Ùȉ·.

Kikuchi-Fujimoto disease or histiocytic necrotizing lymphadenitis.

Case report and literature review E. I. Christianakis1, C. Papantzimas2, G. Tapaki2, N. Myriokefalitakis2 Abstract: Kikuchi-Fujimoto disease or histiocytic necrotizing lymphadenitis is a self-limiting disease which affects young people, particularly women. Clinically, it usually manifests as lymphadenopathy, mainly in the cervical area (70-90% of patients), and approximately 50% of patients present with fever. Anorexia, nausea, weight loss, arthralgia, myalgia, skin rashes and night sweats may be observed. Abnormal laboratory findings include leucopenia, thrombocytopenia with lymphocytosis, atypical lymphocytes, neutropenia and elevated ESR. The diagnosis is established by biopsy of affected lymph nodes, and the most common histological findings are large confluent areas with eosinophilic necrosis, extracellular karyorrhectic debris and crescent lymphocytes. A variety of agents, such as viruses and bacteria, have been widely postulated as aetiological factors. The case is reported of a 14 year-old boy with the clinical and laboratory characteristics of Kikuchi-Fujimoto disease, investigated because of persistent fever, lymphadenopathy and skin rash.

1 Children’s Surgical Department, General Children’s Hospital of Penteli, P. Penteli, Athens 2 1st Department of Paediatrics, General Children’s Hospital of Penteli, P. Penteli, Athens Correspondence: Efstratios π. Christianakis xristianakis@in.gr Children’s Surgical Department, General Children’s Hospital of Penteli, P. Penteli, Athens

Key words: Lymphadenopathy, Kikuchi-Fujimoto disease, necrotic lymphadenitis.

∏ ÓfiÛÔ˜ Kikuchi-Fujimoto (NKF) ‹ ÈÛÙÈÔ΢ÙÙ·ÚÈ΋ ÓÂÎÚˆÙÈ΋ ÏÂÌÊ·‰ÂÓ›Ùȉ· Â›Ó·È ÓfiÛÔ˜ ·ÁÓÒÛÙÔ˘ ·ÈÙÈÔÏÔÁ›·˜ ·˘ÙÔÂÚÈÔÚÈ˙fiÌÂÓË, ÂÚÈÁÚ·Ê›۷ ÁÈ· ÚÒÙË ÊÔÚ¿ ÙÔ 1972 ÛÙËÓ π·ˆÓ›· ͯˆÚÈÛÙ¿ ·fi ÙÔ˘˜ Kikuchi (1) Î·È Fujimoto (2). ™ÙË Û˘Ó¤¯ÂÈ· ¿Ú¯ÈÛÂ Ë ‰ËÌÔÛ›Â˘ÛË ·ÚfiÌÔÈˆÓ ÂÚÈÙÒÛÂˆÓ Î·È Û ¿ÏϘ ¯ÒÚ˜ (3,4). ∏ NKF ·ÔÙÂÏ› ÌÈ· Û¿ÓÈ· ÏÂÌÊ·‰ÂÓÔ¿ıÂÈ· Ô˘ ÚÔÛ‚¿ÏÏÂÈ Î˘Ú›ˆ˜ Ó·ڤ˜ Á˘Ó·›Î˜, ÌÂÁ·Ï‡ÙÂÚ˜ ÙˆÓ 20 ÂÙÒÓ. ¶ÂÚÈÁÚ¿ÊÂÙ·È Ë ÂÚ›ÙˆÛË ·ÁÔÚÈÔ‡ ËÏÈΛ·˜ 14 ÂÙÒÓ, Ô˘ ÚÔÛÎÔÌ›ÛÙËΠÛÙÔ ÓÔÛÔÎÔÌÂ›Ô Ì Â›ÌÔÓÔ ÂÌ‡ÚÂÙÔ Î·È ÂÈÎfiÓ· ÙÚ·¯ËÏÈ΋˜ ÏÂÌÊ·‰ÂÓÔ¿ıÂÈ·˜.

¶ÂÚÈÁÚ·Ê‹ ÂÚ›ÙˆÛ˘ ÕÚÚÂÓ ËÏÈΛ·˜ 14 ÂÙÒÓ ÚÔÛÎÔÌ›ÛÙËΠÛÙÔ ÓÔÛÔÎÔÌÂ›Ô Ì ÙÚ·¯ËÏÈ΋ ÏÂÌÊ·‰ÂÓÔ¿ıÂÈ·, Â›ÌÔÓÔ ˘ÚÂÙfi Î·È ÂÊȉÚÒÛÂȘ. √ ·ÛıÂÓ‹˜ ‹Ù·Ó ηϿ ̤¯ÚÈ Î·È ÚÈÓ ·fi 20 ̤Ú˜, fiÙ·Ó ÂÌÊ¿ÓÈÛ ‹È· ¢·ÈÛıËÛ›· Ì ÙËÓ ›ÂÛË ÛÙË ‰ÂÍÈ¿ ÙÚ·¯ËÏÈ΋ ¯ÒÚ·. ⁄ÛÙÂÚ· ·fi ‰¤Î· Ë̤Ú˜ ÂÌÊ¿ÓÈÛ ˘ÚÂÙfi 39,5oC, ÂÍÂÙ¿ÛÙËΠ·fi ·È‰›·ÙÚÔ, Ô ÔÔ›Ô˜ ÏfiÁˆ Ù˘ ‰ÈfiÁΈÛ˘ ÙˆÓ ÙÚ·¯ËÏÈÎÒÓ ÏÂÌÊ·‰¤ÓˆÓ Û˘Ó¤ÛÙËÛ ıÂÚ·›· Ì ·ÌÔ͢ÎÈÏÏ›ÓË Î·È ·Ú·ÎÂÙ·ÌfiÏË. ¶·Ú¿ ÙË Ê·Ú̷΢ÙÈ΋ ıÂÚ·›·, Ô ˘ÚÂÙfi˜ ÂÍ·ÎÔÏÔ˘ıÔ‡Û ӷ ·Ú·Ì¤ÓÂÈ Û ˘„ËÏ¿ Â›‰· ÁÈ· ¤ÓÙ Ë̤Ú˜, Ì ̤ÁÈÛÙË ¤Í·ÚÛË ÙÔ Úˆ›. ∫·Ù¿ ¶·È‰È·ÙÚÈ΋ 2008;71:243-246

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∂. π. ÃÚÈÛÙÈ·Ó¿Î˘ Î·È Û˘Ó.

ÙËÓ ÂÈÛ·ÁˆÁ‹ ÙÔ˘ ‰È·ÈÛÙÒıËÎ·Ó Ù· ÂÍ‹˜: ıÂÚÌÔÎÚ·Û›· 39,5oC, ÛʇÍÂȘ 70/min Î·È ·ÚÙËÚȷ΋ ›ÂÛË 120/80 mm Hg. ™ÙËÓ ÎÏÈÓÈ΋ ÂͤٷÛË ˘‹Ú¯Â ¤Î‰ËÏË ÙÚ·¯ËÏÈ΋ ÏÂÌÊ·‰ÂÓ›Ùȉ· ‰ÂÍÈ¿. √È ÏÂÌÊ·‰¤Ó˜ ‹Ù·Ó ÂÏ·ÊÚ¿ ÂÒ‰˘ÓÔÈ Î·Ù¿ ÙËÓ „ËÏ¿ÊËÛË, ¢ΛÓËÙÔÈ, ÌË Û˘ÌÊ˘fiÌÂÓÔÈ Ì ÙÔ˘˜ ¤ÚÈÍ ÈÛÙÔ‡˜, ΛÌÂÓÔÈ Î·Ù¿ Ì‹ÎÔ˜ ÙÔ˘ ÛÙÂÚÓÔÎÏÂȉÔÌ·ÛÙÔÂȉԇ˜ Ì˘fi˜ Ì ‰È¿ÌÂÙÚÔ 1,5 cm, ÂÓÒ ÔÈ Â˘ÚÈÛÎfiÌÂÓÔÈ Û ˘ÂÚÎÏ›‰È· ı¤ÛË Â›¯·Ó ‰È¿ÌÂÙÚÔ 2 cm. ™˘Ó˘‹Ú¯·Ó ÌÈÎÚfiÙÂÚÔÈ ÏÂÌÊ·‰¤Ó˜ ÛÙËÓ ·ÚÈÛÙÂÚ¿ ÌËÚÔ‚Ô˘‚ˆÓÈ΋ ¯ÒÚ·. ™˘Ó˘‹Ú¯Â ÁÂÓÈÎÂ˘Ì¤ÓÔ, ÌË ÎÓȉˆÙÈÎfi ÂÚ˘ıÚ¿˜ ¯ÚÔÈ¿˜ ÂÍ¿ÓıËÌ·, ΢ڛˆ˜ ÛÙÔÓ ÎÔÚÌfi Î·È Ù· ¿ÎÚ·, ¯ˆÚ›˜ Ó· ˘Ô¯ˆÚ‹ÛÂÈ Ì ÙË ¯ÔÚ‹ÁËÛË ·ÓÙÈÈÛÙ·ÌÈÓÈÎÒÓ Ê·Ú̿ΈÓ. ∞fi Ù· ¿ÏÏ· Û˘ÛÙ‹Ì·Ù· ‰ÂÓ ‰È·ÈÛÙÒıËΠοÙÈ ¿ÏÏÔ ÙÔ È‰È·›ÙÂÚÔ. √ ÂÚÁ·ÛÙËÚÈ·Îfi˜ ¤ÏÂÁ¯Ô˜ ¤‰ÂÈÍÂ: ·ÈÌÔÛÊ·ÈÚ›ÓË 14,0 g/dl, ·ÈÌ·ÙÔÎÚ›Ù˘ 44,4%, ÏÂ˘Î¿ ·ÈÌÔÛÊ·›ÚÈ· 3.900/mm3, ÔÏ˘ÌÔÚÊÔ‡ÚËÓ· 50%, ÏÂÌÊÔ·ÙÙ·Ú· 40%, ÌÔÓÔ‡ÚËÓ· 9%, ˈÛÈÓfiÊÈÏ· 1%, ·ÈÌÔÂÙ¿ÏÈ· 174.000/mm3 Î·È ∆∫∂ = 36 mm/1Ë ÒÚ·. √ ‚ÈÔ¯ËÌÈÎfi˜ ¤ÏÂÁ¯Ô˜ ‹Ù·Ó Ê˘ÛÈÔÏÔÁÈÎfi˜, ÏËÓ ÌÈ·˜ ÌÈÎÚ‹˜ ·‡ÍËÛ˘ ÙˆÓ ÙÚ·ÓÛ·ÌÈÓ·ÛÒÓ Î·È Ù˘ Á·Ï·ÎÙÈ΋˜ ·Ê˘‰ÚÔÁÔÓ¿Û˘ ÙÔ˘ ÔÚÔ‡: SGOT = 58 U/L, SGPT = 69 U/L Î·È LDH = 375 U/L. √È Î·ÏÏȤÚÁÂȘ ·›Ì·ÙÔ˜ Î·È Ô‡ÚˆÓ, ÔÈ ÔÚÔ·ÓÙȉڿÛÂȘ Widal, Wright, Ô ÈÔÏÔÁÈÎfi˜ ¤ÏÂÁ¯Ô˜ (EPV, HBV HCv, ECHO, Coxackie, HIV), o ¤ÏÂÁ¯Ô˜ ÁÈ· CMV, Toxoplasma, Bartonella henselae Î·È Ô ÔÚÔÏÔÁÈÎfi˜ ¤ÏÂÁ¯Ô˜ (CRP, ANA, anti-ANA, anti-ds DNA, anti-Ro, ASMA, C3, C4, CH50) ‰ÂÓ ¤‰ÂÈÍ·Ó ·ıÔÏÔÁÈο Â˘Ú‹Ì·Ù·. ∏ ‰ÂÚÌÔ·ÓÙ›‰Ú·ÛË Mantoux ‹Ù·Ó Â›Û˘ ·ÚÓËÙÈ΋. ∆Ô ˘ÂÚ˯ÔÁÚ¿ÊËÌ· ÎÔÈÏ›·˜ Î·È Ë ·ÍÔÓÈ΋ ÙÔÌÔÁÚ·Ê›· ıÒڷη Î·È ÎÔÈÏ›·˜ ¤‰ÂÈÍ·Ó Ê˘ÛÈÔÏÔÁÈο Â˘Ú‹Ì·Ù·. ∏ ÁÂÓfiÌÂÓË ‚ÈÔ„›· ÙÚ·¯ËÏÈÎÔ‡ ÏÂÌÊ·‰¤Ó· ¤‰ÂÈÍ ·ÏÏÔÈÒÛÂȘ ÓÂÎÚˆÙÈ΋˜ ÏÂÌÊ·‰ÂÓ›Ùȉ·˜ Û˘Ì‚·Ù¤˜ Ì ÏÂÌÊ·‰ÂÓ›Ùȉ· Kicuchi-Fujimoto (∂ÈÎfiÓ· 1). ™ÙÔÓ ·ÓÔÛÔ˚ÛÙÔ¯ËÌÈÎfi ¤ÏÂÁ¯Ô ÈÛÙÔÔÈ‹ıËΠfiÙÈ ÔÈ ÓÂÎÚˆÙÈΤ˜ ÂÚÈÔ¯¤˜ ÂÚÈ‚¿ÏÏÔÓÙ·È ·fi ÈÛÙÈÔ·ÙÙ·Ú· CD 68(+) ·Ó¿ÌÂÈÎÙ· Ì ÏÂÌÊÔ·ÙÙ·Ú· VCLH 1(+), ÂÓÒ ÔÈ ·ÓÔÛÔ‚Ï¿ÛÙ˜ CD30, CD5 Î·È CD15 ‹Ù·Ó ·ÚÓËÙÈÎÔ›. √ ·ÛıÂÓ‹˜ ·ÎÔÏÔ‡ıËÛ ıÂÚ·›· Ì ÎÂÊÔÙ·Í›ÌË Î·È ÎÏÈÓ‰·Ì˘Î›ÓË ÂÓ‰ÔÊϤ‚È· ÁÈ· ¤ÓÙ Ë̤Ú˜, ÂÓÒ Ë ·˘ÚÂÍ›· ¿Ú¯ÈÛ ·fi ÙËÓ ¤ÌÙË Ë̤ڷ. ŒÓ· ¯ÚfiÓÔ ·ÚÁfiÙÂÚ·, Ô ·ÛıÂÓ‹˜ ‹Ù·Ó Û ·Ú›ÛÙË Î·Ù¿ÛÙ·ÛË, ¯ˆÚ›˜ ‰ÈÔÁΈ̤ÓÔ˘˜ ÏÂÌÊ·‰¤Ó˜, Î·È Ì ÙËÓ ·ÈÌ·ÙÔÏÔÁÈ΋ Î·È ÙË ‚ÈÔ¯ËÌÈ΋ ÂÈÎfiÓ· Ó· Â›Ó·È Ê˘ÛÈÔÏÔÁÈΤ˜.

™˘˙‹ÙËÛË ∏ ¡KF ÚÔÛ‚¿ÏÏÂÈ Î˘Ú›ˆ˜ Ó·ڤ˜ Á˘Ó·›Î˜, Ë ‰Â ·Ó·ÏÔÁ›· ıËϤˆÓ:·ÚÚ¤ÓˆÓ Â›Ó·È 4:1. ŸÌˆ˜, Û ‰ËÌÔÛȇÛÂȘ Ô˘ ·ÊÔÚÔ‡Ó ÌfiÓÔ ·È‰È¿, Ë ·Ó·ÏÔPaediatriki 2008;71:243-246

1

2

∂ÈÎfiÓ· 1. ¢È·Ù·Ú·¯‹ Ù˘ ·Ú¯ÈÙÂÎÙÔÓÈ΋˜ ÂÓfi˜ ÙÚ·¯ËÏÈÎÔ‡ ÏÂÌÊ·‰¤Ó· Â› ÓfiÛÔ˘ Kikuchi-Fujimoto. ¶·Ú·ÙËÚÔ‡ÓÙ·È ÌÂÁ¿Ï· ÏÂÌÊÔ·ÙÙ·Ú· Ì ÏÔ‡ÛÈÔ Î˘ÙÙ·ÚfiÏ·ÛÌ·, ¤ÎÎÂÓÙÚÔ ˘Ú‹Ó· (‚¤ÏÔ˜ 2) Î·È Û˘¯Ó¤˜ ηڢÔÚÚËÎÙÈΤ˜ ÂÛٛ˜ Ì ÌÂÁ¿ÏÔ ·ÚÈıÌfi ËÌÈÛÂÏËÓÔÂȉÒÓ ÈÛÙÈÔ΢ÙÙ¿ÚˆÓ (‚¤ÏÔ˜ 1).

Á›· Ù›ÓÂÈ Ó· ÂÍÈÛˆı› ‹ Ó· ˘ÂÚÙÂÚ› ÙÔ ¿ÚÚÂÓ Ê‡ÏÔ (4). ∏ ÓfiÛÔ˜ ÚÔÛ‚¿ÏÏÂÈ Û˘Ó‹ıˆ˜ ¿ÙÔÌ· ËÏÈΛ·˜ 20-40 ÂÙÒÓ, ·ÏÏ¿ ¤¯Ô˘Ó ·Ó·ÊÂÚı› ÂÚÈÙÒÛÂȘ Ì ·ÎÚ·›Â˜ ËÏÈ˘ ·fi ÌÂÚÈÎÒÓ ÌËÓÒÓ Ì¤¯ÚÈ Î·È 80 ÂÙÒÓ. ∏ ÓfiÛÔ˜ Â›Ó·È ÈÔ Û˘¯Ó‹ ÛÙÔ˘˜ ∞ÛÈ¿Ù˜, ȉȷ›ÙÂÚ· ÛÙËÓ ¿ˆ ∞Ó·ÙÔÏ‹, Û˘ÌÂÚÈÏ·Ì‚·ÓÔ̤Ó˘ Î·È Ù˘ ∫ÔÚ¤·˜. ¶ÔÏÏ¿ ‰ËÌÔÛȇ̷ٷ ·fi ∏¶∞ Î·È ∂˘ÚÒË ÂÚÈÏ·Ì‚¿ÓÔ˘Ó ·ÛıÂÓ›˜ ÚÔÂÚ¯fiÌÂÓÔ˘˜ ·fi ÙËÓ ∞Û›· (4). √È Tanaka Î·È Û˘Ó. ·Ó¤ÊÂÚ·Ó fiÙÈ Ù· ÁÔÓ›‰È· 2HLA class II Î·È Ù· ·ÏÏ‹ÏÈ· DPA*01 Î·È DPB1*0202 Â›Ó·È ÈÔ Û˘¯Ó¿ ÛÙÔ˘˜ ∞ÛÈ¿Ù˜ Î·È Â›Ó·È Èı·Ófi Ó· Û¯ÂÙ›˙ÔÓÙ·È Ì ÙËÓ ¡∫F (5). ∏ ÈÔ Û˘¯Ó‹ ÎÏÈÓÈ΋ ÂΉ‹ÏˆÛË Â›Ó·È Ë ÙÚ·¯ËÏÈ΋ ÏÂÌÊ·‰ÂÓÔ¿ıÂÈ· (70-98%) Ì ÏÂÌÊ·‰¤Ó˜ Û˘Ó‹ıˆ˜ ¢·›ÛıËÙÔ˘˜ ηٿ ÙËÓ „ËÏ¿ÊËÛË (5,6). ∏ ÏÂÌÊ·‰ÂÓÔ¿ıÂÈ· ·Ú·ÙËÚÂ›Ù·È Î·È ÛÙË Ì·Û¯¿ÏË, ÙÔ ıÒڷη, ÙÔ ÌÂÛÔıˆÚ¿ÎÈÔ, ÙËÓ ÎÔÈÏȷ΋ ¯ÒÚ· Î·È ÌËÚÔ‚Ô˘‚ˆÓÈο, ÂÓÒ Û ÔÛÔÛÙfi ÌÂÁ·Ï‡ÙÂÚÔ ÙÔ˘ 20% ÙˆÓ ÂÚÈÙÒÛÂˆÓ ÌÔÚ› Ó· Â›Ó·È ÁÂÓÈÎÂ˘Ì¤ÓË (5). ™ÙÔ 33% ÂÚ›Ô˘ ÙˆÓ ÂÚÈÙÒÛÂˆÓ ˘¿Ú¯ÂÈ ˘ÚÂÙfi˜ 37,4oC-41oC, ÂÓÒ ¤¯Ô˘Ó ·Ó·ÊÂÚı› Î·È ÂÚÈÙÒÛÂȘ ·ÛıÂÓÒÓ Û˘Ó‰˘·˙fiÌÂÓ˜ Ì ˘ÚÂÙfi ·ÁÓÒÛÙÔ˘ ·ÈÙÈÔÏÔÁ›·˜ (7). ªÈÎÚfi˜ ·ÚÈıÌfi˜ ·ÛıÂÓÒÓ ·ÚÔ˘ÛÈ¿˙ÂÈ Ë·ÙÔÌÂÁ·Ï›· Î·È ÛÏËÓÔÌÂÁ·Ï›· (3,8). ¢ÂÚÌ·ÙÈΤ˜ ÂΉËÏÒÛÂȘ ÂÌÊ·Ó›˙ÔÓÙ·È ÛÙÔ ¤Ó· ÙÚ›ÙÔ ÙˆÓ ÂÚÈÙÒÛÂˆÓ Î·È Û˘Ó‹ıˆ˜ Â›Ó·È ÌË ÂȉÈÎÔ‡ ¯·Ú·ÎÙ‹Ú· (ÂÚ˘ıÚ¤˜ ÎËÏ›‰Â˜, ϿΘ, fi˙ÔÈ, ‚Ï·Ù›‰Â˜ ‹ ÂÍÂÏÎÒÛÂȘ) (9). ™·ÓÈfiÙÂÚ· ˘¿Ú¯Ô˘Ó Î·È ¿ÏϘ ÂΉËÏÒÛÂȘ, fiˆ˜ Ó˘¯ÙÂÚÈÓÔ› ȉÚÒÙ˜, ·ÒÏÂÈ·

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¶›Ó·Î·˜ 1. ¢È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË ÓfiÛÔ˘ ÙˆÓ Kikuchi-Fujimoto (4) §ÔÈÌ҉˘ ÌÔÓÔ˘Ú‹ÓˆÛË ¡fiÛÔ˜ ÂÍ ÔÓ‡¯ˆÓ Á·Ï‹˜ §ÔÈÌÒÍÂȘ ·fi ·Ïfi ¤ÚËÙ· Î·È ¿ÏÏÔ˘˜ ÌÈÎÚÔÔÚÁ·ÓÈÛÌÔ‡˜ §ÂÌÊ·‰ÂÓ›Ùȉ· ·fi Yersinia º˘Ì·ÙÈ҉˘ ÏÂÌÊ·‰ÂÓ›ÙȘ ∫·ÎfiËı˜ ϤÌʈ̷ ¶Ï·ÛÌ·ÙÔ΢ÙÙ·ÚÈ΋ Ï¢¯·ÈÌ›· ∆-΢ÙÙ¿ÚˆÓ √Í›· Ì˘ÂÏÔÂȉ‹˜ Ï¢¯·ÈÌ›· ªÂÙ·ÛÙ·ÙÈÎfi ·‰ÂÓÔηÚΛӈ̷ ¡fiÛÔ˜ Kawasaki ™˘ÛÙËÌ·ÙÈÎfi˜ ÂÚ˘ıËÌ·Ù҉˘ χÎÔ˜ ¡fiÛÔ˜ ÙÔ˘ Still ™‡Ó‰ÚÔÌÔ Ù˘ Â›ÎÙËÙ˘ ·ÓÔÛÔ·ÓÂ¿ÚÎÂÈ·˜

‚¿ÚÔ˘˜, Ú›ÁÔ˜, ·ÓÔÚÂÍ›·, Ó·˘Ù›·, ¤ÌÂÙÔÈ, ÔÊı·ÏÌÈΤ˜ ·ÏÏÔÈÒÛÂȘ, Û˘ÌÙÒÌ·Ù· ·fi ÙÔ ·ÓÒÙÂÚÔ ·Ó·Ó¢ÛÙÈÎfi Û‡ÛÙËÌ· Î·È Ôχ Û·ÓÈfiÙÂÚ· ·fi ÙÔ Ô˘ÚÔÔÈËÙÈÎfi (3). ∆· ÂÚÁ·ÛÙËÚȷο Â˘Ú‹Ì·Ù· ÂÚÈÏ·Ì‚¿ÓÔ˘Ó Ï¢ÎÔÂÓ›·, Ì ÏÂÌÊÔ΢ÙÙ¿ÚˆÛË, ¿Ù˘· ÏÂÌÊÔ·ÙÙ·Ú· ÛÙÔ ÂÚÈÊÂÚÈÎfi ·›Ì· Î·È Û·Ó›ˆ˜ ıÚÔÌ‚Ô΢ÙÙ·ÚÔÂÓ›· (10). ∏ Ù·¯‡ÙËÙ· ηı›˙ËÛ˘ ÙˆÓ ÂÚ˘ıÚÒÓ ·ÈÌÔÛÊ·ÈÚ›ˆÓ Â›Ó·È ·˘ÍË̤ÓË ÛÙÔ 78% ÙˆÓ ÂÚÈÙÒÛÂˆÓ (3). ∞˘ÍË̤Ó˜ ·Ó¢ڛÛÎÔÓÙ·È ÔÈ ÙÚ·ÓÛ·ÌÈÓ¿Û˜ Î·È Ë Á·Ï·ÎÙÈ΋ ·Ê˘‰ÚÔÁÔÓ¿ÛË ÙÔ˘ ÔÚÔ‡ (6,7,10). πÛÙÔÏÔÁÈο Ù· ÂÚÈÛÛfiÙÂÚ· Â˘Ú‹Ì·Ù· Ù˘ ¡∂∫ ÂÚÈÏ·Ì‚¿ÓÔ˘Ó ÓÂÎÚˆÙÈΤ˜ ÂÛٛ˜, Ù˘Èο ÂÓÙÔÈ˙fiÌÂÓ˜ ÛÙÔ ÏÂÌÊ·‰ÂÓÈÎfi ·Ú·ÊÏÔÈfi, ÔÈ Ôԛ˜ ÂÚȤ¯Ô˘Ó ¿ÊıÔÓ· ηڢÔ΢ÙÙ·ÚÈο ˘ÚËÓÈο Û˘ÁÎڛ̷ٷ. ªÈ· ·fi ÙȘ ¯·Ú·ÎÙËÚÈÛÙÈΤ˜ ÂÈÎfiÓ˜ Ù˘ ÓfiÛÔ˘ Â›Ó·È Ë ·Ô˘Û›· Ï·ÛÌ·ÙÔ΢ÙÙ¿ÚˆÓ Î·È ·ıÚÔ›ÛÌ·Ù· (clusters) ÌÔÓÔ΢ÙÙ¿ÚˆÓ Î·È ÏÂÌÊÔ΢ÙÙ¿ÚˆÓ Î˘Ú›ˆ˜ ∆-ÚÔ¤Ï¢Û˘ (3,4).

H ˘Ô„›· ÁÈ· NFK Ú¤ÂÈ Ó· Ù›ıÂÙ·È Û ·È‰È¿ Ì ‰ÈÔÁΈ̤ÓÔ˘˜ ÏÂÌÊ·‰¤Ó˜ Î·È È‰È·›ÙÂÚ· fiÙ·Ó ˘¿Ú¯ÂÈ ·Ú·ÙÂٷ̤ÓÔ˜ ˘ÚÂÙfi˜ Î·È ÙÚ·¯ËÏÈ΋ ÏÂÌÊ·‰ÂÓÔ¿ıÂÈ·. ∏ ‰È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË Ù˘ ÓfiÛÔ˘ ÂÚÈÏ·Ì‚¿ÓÂÈ ÏÂÌÊ·‰ÂÓÔ¿ıÂȘ ÏÔÈÌÒ‰Ô˘˜, ÓÂÔÏ·ÛÌ·ÙÈ΋˜ Î·È ·ÓÔÛÔÏÔÁÈ΋˜ ·ÈÙÈÔÏÔÁ›·˜ (¶›Ó·Î·˜ 1). ∏ ÓfiÛÔ˜ ¯·Ú·ÎÙËÚ›˙ÂÙ·È ·fi Ù¿ÛË ·˘ÙÔ˝·Û˘ ÂÓÙfi˜ ÔÏ›ÁˆÓ ÌËÓÒÓ (̤ÛÔ˜ fiÚÔ˜ 6 Ì‹Ó˜) ·fi ÙËÓ ·Ú¯È΋ Ù˘ ÂΉ‹ÏˆÛË Î·È ‰ÂÓ ··ÈÙÂ›Ù·È Î¿ÔÈ· ÂȉÈ΋ ıÂÚ·¢ÙÈ΋ ·ÁˆÁ‹ (4). ™¿ÓÈ·, ÌÔÚ› Ó· ·Ú·ÙËÚËı› ˘ÔÙÚÔ‹ (9,11). ÀÔÙÚÔ‹ ·ÚÔ˘ÛÈ¿ÛÙËÎÂ Î·È Û ¤Ó· ÎÔÚ›ÙÛÈ 8 ÂÙÒÓ ·fi ÙËÓ ∂ÏÏ¿‰· (12). ∂Ó›ÔÙÂ, ÌÔÚ› Ó· ·Ú·ÙËÚËı› ·Ú¿Ù·ÛË Ù˘ ÓfiÛÔ˘ ÁÈ· ¯ÚÔÓÈÎfi ‰È¿ÛÙËÌ· ÌÂÁ·Ï‡ÙÂÚÔ ÙÔ˘ ¤ÙÔ˘˜. ¶·Ú¿ ÙË Û˘Ó‹ıˆ˜ ηÏÔ‹ıË ÔÚ›· Ù˘ ÓfiÛÔ˘, ¤¯Ô˘Ó ‰ËÌÔÛÈ¢ı› ·ÚÎÂÙ¤˜ ÂÚÈÙÒÛÂȘ ÌÂ

ı·Ó·ÙËÊfiÚÔ ¤Î‚·ÛË, ÌÂٷ͇ ÙˆÓ ÔÔ›ˆÓ Î·È ¤Ó· ·È‰› 19 ÌËÓÒÓ (13). ¢ÂÓ ˘¿Ú¯Ô˘Ó ·ÎÚȂ›˜ ‰È·ÁÓˆÛÙÈΤ˜ ̤ıÔ‰ÔÈ Î·È Ë ÙÂÏÈ΋ ‰È¿ÁÓˆÛË Ù˘ NKF Ù›ıÂÙ·È Ì ÙËÓ ·ÓÔȯً ‚ÈÔ„›· ÏÂÌÊ·‰¤ÓˆÓ. ∏ ·ÈÙÈÔ·ıÔÁ¤ÓÂÈ· Ù˘ ÓfiÛÔ˘ ·Ú·Ì¤ÓÂÈ ¿ÁÓˆÛÙË, ·Ó Î·È ¤¯ÂÈ ÂÓÔ¯ÔÔÈËı› Ô Èfi˜ ÙÔ˘ ¤ÚËÙ· Î·È Ô ·ÓıÚÒÈÓÔ˜ ·Ú‚Ô˚fi˜ µ19 (3). Œ¯ÂÈ ÚÔÙ·ı› Ë ‰È¤ÁÂÚÛË ÙˆÓ ∆ÏÂÌÊÔ΢ÙÙ¿ÚˆÓ ˆ˜ ·¿ÓÙËÛË ÛÙËÓ Â›‰Ú·ÛË ÏÔÈÌÒ‰Ô˘˜ ·Ú¿ÁÔÓÙÔ˜. ∏ ·˘ÙÔ¿ÓÔÛË ·ÈÙÈÔÏÔÁ›· Â›Ó·È ÌÈ· ¿ÏÏË Èı·Ó‹ ÂΉԯ‹, ·ÏÏ¿ ÔÈ ÔÚÔÏÔÁÈΤ˜ ÂÎÙÈÌ‹ÛÂȘ ÁÈ· ÙËÓ ‡·ÚÍË ·˘ÙÔ¿ÓÔÛˆÓ ‰È·Ù·Ú·¯ÒÓ ‰ÂÓ Â›Ó·È ·ÎfiÌË ÂȂ‚·ÈˆÙÈΤ˜ (8). ¶Ú¿ÁÌ·ÙÈ, ηٿ Ù· ÙÂÏÂ˘Ù·›· ¯ÚfiÓÈ· Ë ÓfiÛÔ˜ ¤¯ÂÈ Û˘Û¯ÂÙÈÛÙ› Ì ÙÔ ™˘ÛÙËÌ·ÙÈÎfi ∂Ú˘ıËÌ·ÙÒ‰Ë §‡ÎÔ (™∂§) Î·È ÚfiÛÊ·Ù˜ ·Ú·ÙËÚ‹ÛÂȘ ˘ÔÛÙËÚ›˙Ô˘Ó ÙËÓ ¿Ô„Ë fiÙÈ Ë NKF Â›Ó·È Èı·Ófi Ó· ·ÔÙÂÏ› ¤Ó·Ó Ù‡Ô ·˘ÙÔÂÚÈÔÚÈ˙fiÌÂÓÔ˘ ™∂§ (14). À¤Ú Ù˘ ÂÓ ÏfiÁˆ Û˘Û¯¤ÙÈÛ˘ ÙˆÓ ‰‡Ô ÓÔÛËÌ¿ÙˆÓ Î·È ÙÔ˘ ·˘ÙÔ¿ÓÔÛÔ˘ ˘ÔÛÙÚÒÌ·ÙÔ˜ Û˘ÓËÁÔÚ› ÙÔ ÁÂÁÔÓfi˜ fiÙÈ ÔÚÈṲ̂ÓÔÈ ·ÛıÂÓ›˜ ÂÌÊ·Ó›˙Ô˘Ó ıÂÙÈο ·˘ÙÔ·ÓÙÈÛÒÌ·Ù·. ∂›Û˘ ˘¿Ú¯ÂÈ ÙÔ Â‡ÚËÌ· fiÙÈ ÔÚÈṲ̂ÓÔÈ ·ÛıÂÓ›˜ ÂΉËÏÒÓÔ˘Ó ™∂§ ·fi 10 Ë̤Ú˜ ̤¯ÚÈ 20 ¤ÙË ÌÂÙ¿ ÙËÓ ÂÌÊ¿ÓÈÛË Ù˘ NKF (14,15). ™Â Ì›· ÌÂϤÙË ·Ó·Ê¤ÚÂÙ·È fiÙÈ ÙÔ 15% ÙˆÓ ·ÛıÂÓÒÓ Ì NKF ›¯·Ó ıÂÙÈο ·ÓÙÈ˘ÚËÓÈο ·ÓÙÈÛÒÌ·Ù· Î·È ÙÔ 23% ·fi ·˘ÙÔ‡˜ ÂÌÊ¿ÓÈÛ·Ó ™∂§ (13). ™˘ÌÂÚ·ÛÌ·ÙÈο, Ë NKF ·ÔÙÂÏ› ÌÈ· ηÏÔ‹ıË ÓfiÛÔ ·ÁÓÒÛÙÔ˘ ·ÈÙÈÔÏÔÁ›·˜, Ô˘ ·˘ÙÔ˚¿Ù·È Î·È ·Ú·ÙËÚÂ›Ù·È Û˘ÓËı¤ÛÙÂÚ· Û Ó·ڤ˜ Á˘Ó·›Î˜. ŸÌˆ˜, ÛÙ· ·È‰È¿ ÚÔÛ‚¿ÏÏÔÓÙ·È ÂÍ›ÛÔ˘ Î·È Ù· ‰‡Ô ʇϷ ‹ Î·È ˘ÂÚÙÂÚÔ‡Ó Ù· ·ÁfiÚÈ·. ∂ΉËÏÒÓÂÙ·È Î˘Ú›ˆ˜ Ì ÙÚ·¯ËÏÈ΋ ÏÂÌÊ·‰ÂÓÔ¿ıÂÈ· Î·È ˘ÚÂÙfi. ∏ ‰È¿ÁÓˆÛË ÙÂÎÌËÚÈÒÓÂÙ·È ·ÔÎÏÂÈÛÙÈο Ì ÙË ‚ÈÔ„›· ÏÂÌÊ·‰¤Ó· Î·È ÂÌÊ·Ó›˙ÂÈ Ôχ ¯·Ú·ÎÙËÚÈÛÙÈο ÈÛÙÔÏÔÁÈο Â˘Ú‹Ì·Ù·. ¢ÂÓ ··ÈÙÂ›Ù·È Î¿ÔÈ· ÂȉÈ΋ ıÂÚ·¢ÙÈ΋ ·ÁˆÁ‹. ¶Ú¤ÂÈ Ó· Ï·Ì‚¿ÓÂÙ·È ¿ÓÙÔÙ ˘fi„Ë Î·Ù¿ ÙË ‰È·ÊÔÚÈ΋ ‰È¿ÁÓˆÛË ·ÛıÂÓÒÓ Ì Â›ÌÔÓÔ ˘ÚÂÙfi Î·È ÏÂÌÊ·‰ÂÓÔ¿ıÂÈ· ÙÚ·¯‹ÏÔ˘, ηıÒ˜ Ë ¤ÁηÈÚË ‚ÈÔ„›· ÏÂÌÊ·‰¤ÓˆÓ ı· ÂÏ·¯ÈÛÙÔÔÈ‹ÛÂÈ ÙȘ ÌË ·Ó·Áη›Â˜ ÂÍÂÙ¿ÛÂȘ Î·È ıÂÚ·›˜.

µÈ‚ÏÈÔÁÚ·Ê›· 1. Kikuchi M. Lymphadenitis showing focal reticulum cell hyperplasia with nuclear debris and phagocytes: A clinicopathological study. Nippon ∫etsueki Gakkai Zasshi 1972; 35:379-380.

2. Fujimoto Y, Kozima Y, Yamaguchi K. Cervical subacute necrotizing lymphadenitis. A new clinicipathological entity.

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3. Dorfman RF, Berry GJ. Kikuchi’s histiocystic necrotizing lymphadenitis: an analysis of 180 cases with emphasis on differential diagnosis. Semin Diagn Pathol 1988;5:329-345.

4. Lin HC, Su CY, Huang SC. Kikuchi’s disease in Asian ¶·È‰È·ÙÚÈ΋ 2008;71:243-246

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5. Lee KY, Yeon YH, Lee BC. Kikuchi-Fujimoto disease with prolonged fever in children. Pediatrics 2004;114:e752-e756.

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10. ∂ÌÔÚÈ¿‰Ô˘ M, ∆Ú·ÁÈ·ÓÓ›‰Ë˜ A, ∆˙Ô˘‚ÂϤ΢ °, ºÈ‰¿ÓË §, ∫ˆÛÙfiÔ˘ÏÔ˜ I, ∞ı·Ó·ÛÈ¿‰Ô˘ º. ¡fiÛÔ˜ Kikuchi-Fujimoto. Clinical Quiz. ¶·È‰È·ÙÚÈ΋ 2007;70:246, 252.

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12. °ÎÈÔÌ›ÛË ∞, ∫·Ú‰·Ú¿˜ ¶, ∫·ÏÔ‡ÙÛË µ, °ÔÌ¿Î˘ ¡, ∆ÛÈÔ‡Ú˘ π. πÛÙÈÔ΢ÙÙ·ÚÈ΋ ÓÂÎÚˆÙÈ΋ ÏÂÌÊ·‰ÂÓ›Ùȉ· (¡fiÛÔ˜ Kikuchi-Fujimoto): ¶ÂÚÈÁÚ·Ê‹ ÂÚ›ÙˆÛ˘ Û ·È‰›. ¶·È‰È·ÙÚÈ΋ µÔÚ›Ԣ ∂ÏÏ¿‰Ô˜ 2005;17:285-288.

13. OãNeill D, OãGrady J, Variend S. Child fatality associated with pathological features of histiocytic necrotizing lymphadenitis (Kikuchi-Fujimoto disease). Pediatr Pathol Lab Med 1998;18:79-88.

14. Hedia G, Jamel A, Maher A, Hanadi A, Agnes H, Nidhameddine K. Kikuchi-Fujimoto disease associated with systemic lupus erythematosus. J Clin Rheumatol 2005;11: 341-342.

15. Rao GS, Vohra D, Kuruvilla M. Is Kikuchi-Fujimoto disease a manifestation of systemic lupus erythematosus? Int J Dermatol 2006;45:454-456.

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∫ÔÚ›ÙÛÈ 13 ÂÙÒÓ Ì ¯·ÌËÏfi ˘ÚÂÙfi, ·ÒÏÂÈ· ‚¿ÚÔ˘˜ Î·È ‰È·Ù·Ú·¯¤˜ ÛÙË Û˘ÌÂÚÈÊÔÚ¿ X. ∫Ô˘ÙÛ·˘Ù›ÎË, °. ¡ÙÈÔ‡‰Ë˜, ∂. ª¿ÓÙ˙ÈÔ˘, °. ¶··‰ÔÔ‡ÏÔ˘-∆·¿ÎË, ¡. ª˘ÚÈÔÎÂÊ·ÏÈÙ¿Î˘ ∫ÔÚ›ÙÛÈ ËÏÈΛ·˜ 13 ÂÙÒÓ ÂÈÛ‹¯ıË ÁÈ· ‰ÈÂÚ‡ÓËÛË ˘ÚÂÙÔ‡, ÎÂÊ·Ï·ÏÁ›·˜ Î·È ·ÚıÚ·ÏÁÈÒÓ. ∞ӷʤÚÔÓÙ·Ó ¤ÓÙÔÓË Î·Ù·‚ÔÏ‹ Î·È ·‰˘Ó·Ì›·, ˘Ú¤ÙÈÔ ˆ˜ 37,8ÔC ·fi ‰ÈË̤ÚÔ˘, ÎÂÊ·Ï·ÏÁ›· Î·È ·ÚıÚ·ÏÁ›Â˜ ¿Óˆ Î·È Î¿Ùˆ ¿ÎÚˆÓ ·fi ‰ÂηË̤ÚÔ˘, ηıÒ˜ Î·È ˘ÂÚÎÈÓËÙÈÎfiÙËÙ·, ·ÓËÛ˘¯›· Î·È ·Î·ıÈÛ›· ·fi ‰ÂηË̤ÚÔ˘. ∆ÔÓ ÙÂÏÂ˘Ù·›Ô Ì‹Ó· ·Ó·ÊÂÚfiÙ·Ó ·ÒÏÂÈ· ‚¿ÚÔ˘˜ 6 kg ÂÚ›Ô˘. ∂›Û˘, ÚÔ ÂÈÎÔÛ·Ë̤ÚÔ˘ ›¯Â ÂÌÊ·Ó›ÛÂÈ ˘ÚÂÙfi Î·È ‚‹¯·, ÁÈ· Ù· ÔÔ›· ¤Ï·‚ ÎÏ·ÚÈıÚÔÌ˘Î›ÓË, ·ÏÏ¿ Î·È ·ÚıÚ·ÏÁ›Â˜, ηıÒ˜ Î·È ÂÍ¿ÓıËÌ· ·Ï·ÌÒÓ Î·È ·ÚÂÈÒÓ. ∆ÚÂȘ ̤Ú˜ ÌÂÙ¿ ¯ÚÂÈ¿ÛÙËΠÓÔÛËÏ›· ÏfiÁˆ ‰È·ÚÚÔÈÒÓ, ¤ÓÙÔÓ˘ ·‰˘Ó·Ì›·˜ Î·È ·Ó·ÊÂÚfiÌÂÓ˘ ·ÒÏÂÈ·˜ ‚¿ÚÔ˘˜ ÂÚ›Ô˘ 3,5 kg Û ‰È¿ÛÙËÌ· ÌÈ·˜ ‚‰ÔÌ¿‰·˜. ™˘ÛÙ‹ıËΠÙfiÙÂ Î·È ·È‰Ô„˘¯È·ÙÚÈ΋ ÂÎÙ›ÌËÛË, ηıÒ˜ Ë ¤ÊË‚Ë ·ÚÔ˘Û›·˙ ‰È·Ù·Ú·¯¤˜ ÛÙË Û˘ÌÂÚÈÊÔÚ¿. ∆Ô ÔÈÎÔÁÂÓÂÈ·Îfi ÂÚÈ‚¿ÏÏÔÓ ‹Ù·Ó ȉȷÈÙ¤Úˆ˜ ‰È·Ù·Ú·Á̤ÓÔ. √È ÁÔÓ›˜ ‹Ù·Ó ¯ˆÚÈṲ̂ÓÔÈ Î·È Ë ÌËÙ¤Ú· ˘ÔÙ¢fiÙ·Ó ÛÂÍÔ˘·ÏÈ΋ ηÎÔÔ›ËÛË ÙÔ˘ ÎÔÚÈÙÛÈÔ‡, Ì ·ÊÔÚÌ‹ ΢ڛˆ˜ ÙÔ ÁÂÁÔÓfi˜ fiÙÈ ÂÌÊ¿ÓÈ˙ ·ÌËÓfiÚÚÔÈ· ·fi 3Ì‹ÓÔ˘ Î·È ¤ÓÙÔÓ· ÊÔ‚È΋ Û˘ÌÂÚÈÊÔÚ¿ ÌÂÙ¿ ÙË ‰È·Ó˘ÎÙ¤ÚÂ˘Û‹ Ù˘ Û ÊÈÏÈÎfi Û›ÙÈ ÚÔ 3Ì‹ÓÔ˘. ∫·Ù¿ ÙË Ê˘ÛÈ΋ ÂͤٷÛË, ÛÙË ‰Â‡ÙÂÚË ÓÔÛËÏ›· Ù˘, ‰È·ÈÛÙÒıËΠۯÂÙÈο ¯·ÌËÏfi ‚¿ÚÔ˜ ÛÒÌ·ÙÔ˜ (µ™ <25Ë ∂£) Î·È Î·Ú‰È·Îfi ʇÛËÌ· 2/6. ∞ÍÈfiÏÔÁ· ‹Ù·Ó Ù· Â˘Ú‹Ì·Ù· Ù˘ Ó¢ÚÔÏÔÁÈ΋˜ ÂͤٷÛ˘ Î·È Ù˘ ·È‰Ô„˘¯È·ÙÚÈ΋˜ ÂÎÙ›ÌËÛ˘, fiÔ˘ ‰È·ÈÛÙÒıËÎ·Ó ·Î·ıÈÛ›·, ‰È·Ù·Ú·¯¤˜ Û˘ÌÂÚÈÊÔÚ¿˜, ·Ï˘ÛÌfi˜, Êfi‚Ô˜ Î·È ¿ÏϘ Èı·ÓÒ˜ „˘¯ˆÛÈÎÔ‡ Ù‡Ô˘ ÂΉËÏÒÛÂȘ. ¢È·ÈÛÙÒıËÎ·Ó ·ÎfiÌË

∞’ ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋ ¡ÔÛÔÎÔÌ›Ԣ ¶·›‰ˆÓ ¶ÂÓÙ¤Ï˘ AÏÏËÏÔÁÚ·Ê›·: ÃÚ˘Û‹ ∫Ô˘ÙÛ·˘Ù›ÎË kochrysa@yahoo.com ∞’ ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋ ¡ÔÛÔÎÔÌ›Ԣ ¶·›‰ˆÓ ¶ÂÓÙ¤Ï˘

¿¯˘ÓÛË ÙˆÓ ¿ÎÚˆÓ Ù˘ ÌÈÙÚÔÂȉԇ˜ ‚·Ï‚›‰·˜ Î·È ÂÏ·ÊÚÔ‡ ‚·ıÌÔ‡ ·ÓÂ¿ÚÎÂÈ·. ∏ ‚˘ıÔÛÎfiËÛË ¤‰ÂÈÍ ÂÈÎfiÓ· ·ÁÁÂÈ›Ùȉ·˜, Ì ÌÈÎÚÔÂÍȉÚÒÌ·Ù· Î·È ÌÈÎÚÔ·ÈÌÔÚÚ·Á›Â˜ ÛÙÔÓ ·ÌÊÈ‚ÏËÛÙÚÔÂȉ‹. √ ·Ú¯ÈÎfi˜ ÂÚÁ·ÛÙËÚÈ·Îfi˜ ¤ÏÂÁ¯Ô˜ ¤‰ÂÈÍÂ: WBC = 3370/mm3, PLT = 100.000/mm3, Hb = 10,1 g/dl, ∆∫∂ = 60 mm/1Ë h, χΈ̷ Ô‡ÚˆÓ = 150 mg/dl, Ê˘ÛÈÔÏÔÁÈ΋ ÂͤٷÛË ∂¡À, ·ÚÓËÙÈο ·ÓÙÈÛÒÌ·Ù· ÁÈ· Rickettsia-Borrelia-Leishmania-Mycoplasma Î·È EBV. √È ‰ÔÎÈ̷ۛ˜ Mantoux Î·È Wright ‹Ù·Ó Â›Û˘ ·ÚÓËÙÈΤ˜. º˘ÛÈÔÏÔÁÈÎfi˜ ‹Ù·Ó Î·È Ô ·ÂÈÎÔÓÈÛÙÈÎfi˜ ¤ÏÂÁ¯Ô˜ ÙÔ˘ ÂÁÎÂÊ¿ÏÔ˘ Ì ˘ÔÏÔÁÈÛÙÈ΋ ÙÔÌÔÁÚ·Ê›· Î·È Ë ·ÎÙÈÓÔÁÚ·Ê›· ıÒÚ·ÎÔ˜. ¡ÔÛËχÙËÎÂ Û˘ÓÔÏÈο ÁÈ· 8 Ë̤Ú˜. ∫·ıËÌÂÚÈÓ¿ ÂÌÊ¿ÓÈ˙ ıÂÚÌÔÎÚ·Û›· ˆ˜ 38,3ÔC, ÂÚÈÔ‰ÈÎfi, ¤ÓÙÔÓÔ, ‰È¿¯˘ÙÔ ÎÔÈÏÈ·Îfi ¿ÏÁÔ˜ Î·È ÛÙÔ Ù¤Ù·ÚÙÔ 24ˆÚÔ ÂÌÊ¿ÓÈÛ ¿Êı˜ ÛÙfiÌ·ÙÔ˜-‚ÏÂÓÓÔÁfiÓÔ˘ ·ÚÂÈÒÓ. ∏ Û˘ÌÂÚÈÊÔÚ¿ Ù˘ ‹Ù·Ó ¤ÓÙÔÓ· ‰È·Ù·Ú·Á̤ÓË Î·È ÚÔ‚ÏËÌ¿ÙÈ˙ ȉȷ›ÙÂÚ·, ·ÏÏ¿ ‰ÂÓ ·ÚÔ˘Û›·Û ͷӿ ÎÂÊ·Ï·ÏÁ›· Î·È ·ÚıÚ·ÏÁ›Â˜. ŒÁÈÓ·Ó ¿ÏÈ ÂÚÁ·ÛÙËÚȷΤ˜ ÂÍÂÙ¿ÛÂȘ, Ù· ·ÔÙÂϤÛÌ·Ù· ÙˆÓ ÔÔ›ˆÓ Û˘ÓÂÎÙÈÌ‹ıËÎ·Ó Ì ÙËÓ ÎÏÈÓÈ΋ ÂÈÎfiÓ· Î·È Ô‰‹ÁËÛ·Ó ÛÙË ‰È¿ÁÓˆÛË.

¶Èı·Ó¤˜ ‰È·ÁÓÒÛÂȘ: 1. §Ô›ÌˆÍË 2. ÈÚÔηٷÎÙËÙÈ΋ ÂÍÂÚÁ·Û›· ÂÁÎÂÊ¿ÏÔ˘ 3. §‹„Ë ÙÔÍÈÎÒÓ Ô˘ÛÈÒÓ 4. ™˘ÛÙËÌ·ÙÈÎfi˜ ÂÚ˘ıËÌ·Ù҉˘ χÎÔ˜ - „‡¯ˆÛË 5. ∫·ÎÔÔ›ËÛË

∏ ·¿ÓÙËÛË ·ÎÔÏÔ˘ı› ÛÙË ÛÂÏ›‰· 253 ¶·È‰È·ÙÚÈ΋ 2008;71:247,253-254

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™À¡∆√ª∞ ¶∞π¢π∞∆ƒπ∫∞ ¡∂∞

∂ÏÏËÓÈ΋ ·È‰È·ÙÚÈ΋ ¤Ú¢ӷ Û ‰ÈÂıÓ‹ ÂÚÈÔ‰Èο, 2007-2008 ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋, ¶·ÓÂÈÛÙ‹ÌÈÔ ∫Ú‹Ù˘ Correspondence: ∂ÌÌ·ÓÔ˘‹Ï °·Ï·Ó¿Î˘ egalanak@med.uoc.gr ¶·È‰È·ÙÚÈ΋ ∫ÏÈÓÈ΋ ¶·ÓÂÈÛÙËÌ›Ô˘ ∫Ú‹Ù˘

Department of Paediatrics, University of Crete Correspondence: Emmanouil Galanakis egalanak@med.uoc.gr Department of Paediatrics, University of Crete

∂. °·Ï·Ó¿Î˘ ø˜ Û˘Ó¤¯ÂÈ· ÙˆÓ ™‡ÓÙÔÌˆÓ ¶·È‰È·ÙÚÈÎÒÓ ¡¤ˆÓ ÙÔ˘ 1Ô˘ Ù‡¯Ô˘˜ Ù˘ ¶∞π¢π∞∆ƒπ∫∏™ 2008, ·ÚÔ˘ÛÈ¿˙ÔÓÙ·È Ôχ Û˘ÓÔÙÈο ÂÏÏËÓÈΤ˜ ÌÂϤÙ˜ ¢ڇÙÂÚÔ˘ ·È‰È·ÙÚÈÎÔ‡ ÂӉȷʤÚÔÓÙÔ˜, Ô˘ ‰ËÌÔÛȇıËÎ·Ó ÚfiÛÊ·Ù· Û ‰ÈÂıÓ‹ ÂÚÈÔ‰Èο Î·È Ô˘ ηχÙÔ˘Ó fiÏ· Ù· ‰›·, ·fi ÙÔ ÂÚÁ·ÛÙËÚÈ·Îfi ˆ˜ ÙÔ ÎÏÈÓÈÎfi Î·È ÙÔ ÎÔÈÓˆÓÈÎfi Î·È fiϘ ÙȘ ËÏÈ˘, ·fi ÙÔ ÓÂÔÁÓfi Î·È ÙÔ ‚Ú¤ÊÔ˜ ˆ˜ ÙÔ ·È‰› Î·È ÙÔÓ ¤ÊË‚Ô.

Greek paediatric research in international journals, 2007-2008 E. Galanakis A small sample of studies from Greece, of general paediatric interest, recently published in international medical journals and covering material from the laboratory to clinical and social fields and from the neonatal age through infancy and childhood to adolescence are presented in brief in this issue.

‚-ªÂÛÔÁÂȷ΋ ·Ó·ÈÌ›·: ·ÂÈÎfiÓÈÛË. ªÂϤÙË 30 ·ÛıÂÓÒÓ Ì ‚-ÌÂÛÔÁÂȷ΋ ·Ó·ÈÌ›· ·fi ÙË £ÂÛÛ·ÏÔÓ›ÎË ¤‰ÂÈÍ fiÙÈ Ë ·ÂÈÎfiÓÈÛË Ì·ÁÓËÙÈÎÔ‡ Û˘ÓÙÔÓÈÛÌÔ‡ (MRI) Ì ·ÎÔÏÔ˘ı›Â˜ ∆2 Â›Ó·È ¯Ú‹ÛÈÌË ÛÙËÓ ·ÍÈÔÏfiÁËÛË Ù˘ ÂÓ·fiıÂÛ˘ Ûȉ‹ÚÔ˘ ÛÙËÓ ˘fiÊ˘ÛË Î·È ÌÔÚ› Ó· ¯ÚËÛÈÌÔÔÈËı› ÁÈ· ÙËÓ ÚÔÛ˘Ìو̷ÙÈ΋ ·Ó›¯Ó¢ÛË ·ÛıÂÓÒÓ ˘„ËÏÔ‡ ÎÈÓ‰‡ÓÔ˘ ÁÈ· ˘ÔÁÔÓ·‰ÈÛÌfi (Christoforidis A, et al. Eur J Radiol 2007;62: 138-142). ‚-ªÂÛÔÁÂȷ΋ ·Ó·ÈÌ›·: ıÂÚ·›·. ªÂϤÙË 44 ·ÛıÂÓÒÓ Ì ‚-ÌÂÛÔÁÂȷ΋ ·Ó·ÈÌ›· Û ·ÁˆÁ‹ ·ÔÛȉ‹ÚˆÛ˘ Ì ‰ÂÊÂÚÈÚfiÓË (L1) ·fi ÙÔ˘ ÛÙfiÌ·ÙÔ˜ ÌfiÓË Ù˘ ‹ ÛÂ Û˘Ó‰˘·ÛÌfi Ì ·ÚÂÓÙÂÚÈ΋ ‰ÂÊÂÚÔÍ·Ì›ÓË Î·Ù¤ÏËÍ fiÙÈ Ë ·ÁˆÁ‹ Ì ‰ÂÊÂÚÈÚfiÓË, ÌfiÓË ‹ ÛÂ Û˘Ó‰˘·ÛÌfi Ì ‰ÂÊÂÚÔÍ·Ì›ÓË, Â›Ó·È ·ÛÊ·Ï‹˜ Î·È ‚ÂÏÙÈÒÓÂÈ ÛËÌ·ÓÙÈο ÙËÓ ÔÈfiÙËÙ· ˙ˆ‹˜ ÙˆÓ ·ÛıÂÓÒÓ (Tourkantoni N, et al. Hemoglobin 2008;32:35-40).

Paediatriki 2008;71:248-250

∏·Ù›Ùȉ˜ A, B, Î·È C Û ·ıÈÁÁ·ÓfiÔ˘Ï·. ™Â Û¯¤ÛË Ì ÙÔ˘˜ Û˘ÌÌ·ıËÙ¤˜ ÙÔ˘˜ Û ۯÔÏ›· Ù˘ ¢˘ÙÈ΋˜ ∞ı‹Ó·˜, Ù· ·È‰È¿ ·fi ÔÈÎÔÁ¤ÓÂȘ ·ıÈÁÁ¿ÓˆÓ (Roma) ›¯·Ó ÈÔ Û˘¯Ó¿ ÔÚÔÏÔÁÈΤ˜ ÂӉ›ÍÂȘ Ë·Ù›Ùȉ·˜ ∞ (98% ¤Ó·ÓÙÈ 33%, p<0,0001) Î·È Ë·Ù›Ùȉ·˜ µ (22% ¤Ó·ÓÙÈ 0%, p<0,0001). ∫·Ó¤Ó· ·fi Ù· ·È‰È¿ Ù˘ ÌÂϤÙ˘ ‰ÂÓ Â›¯Â ÔÚÔÏÔÁÈ΋ ¤Ó‰ÂÈÍË Ë·Ù›Ùȉ·˜ C (Michos A, et al. J Med Virol 2008;80:791-797). ∏ Ë·Ù›Ùȉ· µ ÌÂÙ¿ ÙÔÓ Î·ıÔÏÈÎfi ÂÌ‚ÔÏÈ·ÛÌfi. √ÚÔÂȉËÌÈÔÏÔÁÈ΋ ÌÂϤÙË Û ÔÏϤ˜ ÂÚÈÔ¯¤˜ Ù˘ ∂ÏÏ¿‰·˜ (Papaevangelou V, et al.

Infection 2008;36:135-139) ¤‰ÂÈÍ ÂÈÔÏ·ÛÌfi HBsAg(+) Û 0,6%, Î·È ÔÚÔÏÔÁÈ΋ ¤Ó‰ÂÈÍË Ïԛ̈͢ ÛÙÔ ·ÚÂÏıfiÓ Û 4,5% ÙˆÓ ·È‰ÈÒÓ ¿Óˆ ÙˆÓ 12 ÌËÓÒÓ. ¶·Ú·ÙËÚ‹ıËΠÛËÌ·ÓÙÈ΋ ÙÒÛË ÙÔ˘ ÂÈÔÏ·ÛÌÔ‡ Ù˘ Ïԛ̈͢ ÁÈ· Ù· ·È‰È¿ Ô˘ ÁÂÓÓ‹ıËÎ·Ó ÌÂÙ¿ ÙÔ 1998, fi¯È fï˜ ÛÙ· ·È‰È¿ ·fi ÔÈÎÔÁ¤ÓÂȘ ÌÂÙ·Ó·ÛÙÒÓ.

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PAEDIATRIC NEWS IN BRIEF ÀÂÚË‚È΋ ·Ú·Î¤ÓÙËÛË Û Ԣ‰ÂÙÂÚÔÂÓÈο ·È‰È¿. ∏ ˘ÂÚË‚È΋ ·Ú·Î¤ÓÙËÛË ÁÈ· ÙË Ï‹„Ë ‰Â›ÁÌ·ÙÔ˜ Ô‡ÚˆÓ ÌÔÚ› Ó· ¤¯ÂÈ ˆ˜ ÂÈÏÔ΋ ÙÔ Û¯ËÌ·ÙÈÛÌfi ·ÔÛÙ‹Ì·ÙÔ˜ ÙÔ˘ ÎÔÈÏÈ·ÎÔ‡ ÙÔȯÒÌ·ÙÔ˜ ÛÙÔ ÛËÌÂ›Ô Ù˘ ·Ú·Î¤ÓÙËÛ˘, fiÙ·Ó Á›ÓÂÙ·È Û ‚Ú¤ÊË Ì ˘ÚÂÙfi Î·È Î·ÏÔ‹ıË Ô˘‰ÂÙÂÚÔÂÓ›· (Moustaki M, et al.

Pediatr Emerg Care 2007;23:823-825). ∏ ÁÂÓÂÙÈ΋ ÂÙÂÚÔÁ¤ÓÂÈ· Ù˘ ÓfiÛÔ˘ Pompe. ¶ÔÏ˘ÎÂÓÙÚÈ΋ ÌÂϤÙË (ÂÏÏËÓÈ΋ Û˘ÌÌÂÙÔ¯‹ ·fi ÙÔ πÓÛÙÈÙÔ‡ÙÔ ÀÁ›·˜ ÙÔ˘ ¶·È‰ÈÔ‡) ·ÚÔ˘ÛÈ¿˙ÂÈ ‚¿ÛË ‰Â‰ÔÌ¤ÓˆÓ ÁÈ· ÙË ÓfiÛÔ Pompe Ô˘ ·ÔÛÎÔ› ÛÙËÓ Î·Ù·ÏÔÁÔÁÚ¿ÊËÛË ÙˆÓ ·Ú·ÏÏ·ÁÒÓ Ù˘ ·ÎÔÏÔ˘ı›·˜ ÙÔ˘ ÁÔÓȉ›Ô˘ GAA Î·È ÙˆÓ Ê·ÈÓÔÙ˘ÈÎÒÓ ÂÎÊÚ¿ÛÂÒÓ ÙÔ˘˜ (Kroos M, et al. Hum Mutat, ËÏÂÎÙÚÔÓÈ΋ ÚÔ‰ËÌÔÛ›Â˘ÛË 18 ∞ÚÈÏ›Ô˘ 2008). ¶·ÚÔ˘ÛÈ¿˙ÔÓÙ·È Ó¤Â˜ ÌÂÙ·ÏÏ¿ÍÂȘ, ·Ó‚¿˙ÔÓÙ·˜ ÙÔÓ ·ÚÈıÌfi ÙˆÓ ÁÓˆÛÙÒÓ Û 289, ηıÒ˜ Î·È ÙÚfiÔ˜ ·ÍÈÔÏfiÁËÛ˘ Ù˘ ÛÔ‚·ÚfiÙËÙ¿˜ ÙÔ˘˜. ∏ Ê·ÈÓÔÙ˘È΋ ÂÙÂÚÔÁ¤ÓÂÈ· ÙÔ˘ ¿ÛıÌ·ÙÔ˜. ªÂϤÙË ·fi ÙÔ ¢ÈÂıÓ¤˜ ¢›ÎÙ˘Ô °ÂÓÂÙÈ΋˜ ÙÔ˘ ÕÛıÌ·ÙÔ˜ (11 ΤÓÙÚ·, ÂÏÏËÓÈ΋ Û˘ÌÌÂÙÔ¯‹ ·fi ÙË £ÂÛÛ·ÏÔÓ›ÎË) ·ÚÔ˘ÛÈ¿˙ÂÈ Ù· ·ÔÙÂϤÛÌ·Ù· ·fi 1.022 ÔÈÎÔÁ¤ÓÂȘ Î·È Î·Ù·Ï‹ÁÂÈ Û ¤ÓÙ ·Ú¿ÁÔÓÙ˜ Ô˘ ÔÚ›˙Ô˘Ó ÛËÌ·ÓÙÈο ·ÓÙÈÎÂÈÌÂÓÈο Î·È ˘ÔÎÂÈÌÂÓÈο ¯·Ú·ÎÙËÚÈÛÙÈο Ù˘ ÓfiÛÔ˘ Û ·È‰È¿, ÂÊ‹‚Ô˘˜ Î·È Ó·ÚÔ‡˜ ÂÓ‹ÏÈΘ (Pillai SG, et al. Clin Exp Allergy 2008;38:421-429). ∆¿ÛÂȘ ¯ÚfiÓÈ·˜ ÚÈÓ›Ùȉ·˜, ÚÈÓÔÂÈÂÊ˘Î›Ùȉ·˜ Î·È ÂÎ˙¤Ì·ÙÔ˜. √ ÂÈÔÏ·ÛÌfi˜ Ù˘ ¯ÚfiÓÈ·˜-˘ÔÙÚÔÈ¿˙Ô˘Û·˜ ÚÈÓ›Ùȉ·˜, Ù˘ ÚÈÓÔÂÈÂÊ˘Î›Ùȉ·˜, ÙÔ˘ ÂÎ˙¤Ì·ÙÔ˜ Î·È Ë ·Ó·ÏÔÁ›· ÙÔ˘ ·ÙÔÈÎÔ‡ ¿ÛıÌ·ÙÔ˜ ÛÙ· ·È‰È¿ Û¯ÔÏÈ΋˜ ËÏÈΛ·˜ ÛÙËÓ ¶¿ÙÚ· ·ÚÔ˘ÛÈ¿˙ÂÈ ·‡ÍËÛË, Û‡Ìʈӷ Ì ÙÚÂȘ ‰È·‰Ô¯ÈΤ˜ ÂÎÙÈÌ‹ÛÂȘ Ì ÙËÓ ›‰È· ÌÂıÔ‰ÔÏÔÁ›· (1991, 1998, Î·È 2003 Û 2.417, 3.006 Î·È 2.725 ÂÚˆÙËÌ·ÙÔÏfiÁÈ·, ·ÓÙ›ÛÙÔȯ·).

H ·‡ÍËÛË ·Ú·ÙËÚ‹ıËΠÂÚÈÛÛfiÙÂÚÔ ÛÙ· ·ÁfiÚÈ· (Anthracopoulos MB, et al. Pediatr Allergy Immunol, ËÏÂÎÙÚÔÓÈ΋ ÚÔ‰ËÌÔÛ›Â˘ÛË 21 ∞ÚÈÏ›Ô˘ 2008). ÕÍÔÓ·˜ ˘Ôı·Ï¿ÌÔ˘-˘fiÊ˘Û˘-ÂÈÓÂÊÚȉ›ˆÓ Î·È ÂÈÛÓÂfiÌÂÓ· ÎÔÚÙÈÎÔÛÙÂÚÔÂȉ‹. ∞Ó·ÛÎfiËÛË Ù˘ ·ÓÙ·fiÎÚÈÛ˘ ÙÔ˘ ¿ÍÔÓ· ˘Ôı·Ï¿ÌÔ˘-˘fiÊ˘Û˘-ÂÈÓÂÊÚȉ›ˆÓ Û ·È‰È¿ Ì ¿ÛıÌ· (Priftis KN, et al. Trends Endocrinol Metab 2008;19:32-38) ηٷϋÁÂÈ fiÙÈ

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Ë ·ÓÙÈÊÏÂÁÌÔÓ҉˘ ‰Ú¿ÛË ÙˆÓ ÂÈÛÓÂfiÌÂÓˆÓ ÎÔÚÙÈÎÔÛÙÂÚÔÂȉÒÓ ¤¯ÂÈ ˆ˜ ·ÔÙ¤ÏÂÛÌ· Î·È ÙËÓ ‡ÊÂÛË ÙÔ˘ ¿ÛıÌ·ÙÔ˜ Î·È ÙË ‚ÂÏÙ›ˆÛË ÙÔ˘ ¿ÍÔÓ· Î·È fiÙÈ Ë ÂÈÓÂÊÚȉȷ΋ ηٷÛÙÔÏ‹ οÔÈˆÓ ·ÛıÂÓÒÓ Û ۯ‹Ì·Ù· Û˘ÓÙ‹ÚËÛ˘ Ê·›ÓÂÙ·È Ó· ·ÔÙÂÏ› ͯˆÚÈÛÙfi Ê·ÈÓfiÌÂÓÔ, Èı·ÓfiÓ È‰ÈÔÛ˘ÛÙ·Ûȷ΋˜ ʇÛ˘. ™˘ÁÁÂÓ‹˜ ˘Ôı˘ÚÂÔÂȉÈÛÌfi˜ Î·È ·¯˘Û·ÚΛ·. ∆· ·È‰È¿ ÌÂ Û˘ÁÁÂÓ‹ ˘Ôı˘ÚÂÔÂȉÈÛÌfi ¤¯Ô˘Ó ·Ú¯Èο ·˘ÍË̤ÓÔ ‰Â›ÎÙË Ì¿˙·˜ ÛÒÌ·ÙÔ˜ (µªπ) Ô˘ ‡ÛÙÂÚ· ·fi οÔȘ ‰È·Î˘Ì¿ÓÛÂȘ ηٷϋÁÂÈ Ê˘ÛÈÔÏÔÁÈÎfi˜ ¤ˆ˜ ÙËÓ ÂÊ˂›· (Livadas S, et al. Horm Metab Res 2007;39: 524-528), Â˘Ú‹Ì·Ù· Ô˘ ˘Ô‰ÂÈÎÓ‡Ô˘Ó fiÙÈ Ë ı˘ÚÂÔÂȉÈ΋ ÏÂÈÙÔ˘ÚÁ›· ηٿ ÙËÓ ÂÌ‚Ú˘È΋ Î·È ÓÂÔÁÓÈ΋ ÂÚ›Ô‰Ô ÂËÚ¿˙ÂÈ ÙÔ ‰Â›ÎÙË Ì¿˙·˜ ÛÒÌ·ÙÔ˜ ÛÙ· ÚÒÙ· ¤ÙË Ù˘ ˙ˆ‹˜. ∞ÔÈÎÈÛÌfi˜ ÓÂÔÁÓÒÓ Ì ̇ÎËÙ˜. ∞fi 593 ÓÂÔÁÓ¿ Ô˘ ÓÔÛËχıËÎ·Ó Û ªÔÓ¿‰· ¡ÂÔÁÓÒÓ, 12% ‚Ú¤ıËÎ·Ó ·ÔÈÎÈṲ̂ӷ ·fi ̇ÎËÙ˜ (42% ·fi ·˘Ù¿ ·fi Candida albicans). ∆Ô Ôχ ¯·ÌËÏfi ‚¿ÚÔ˜ Á¤ÓÓËÛ˘ ‹Ù·Ó Ô ÌfiÓÔ˜ ·ÓÂÍ¿ÚÙËÙÔ˜ ·Ú¿ÁÔÓÙ·˜ ÎÈÓ‰‡ÓÔ˘ ÁÈ· ÙÔÓ ·ÔÈÎÈÛÌfi. √È ‰ÈÂÈÛ‰˘ÙÈΤ˜ Ì˘ÎËÙÈ¿ÛÂȘ ‹Û·Ó Û˘¯ÓfiÙÂÚ˜ ÛÙ· ·ÔÈÎÈṲ̂ӷ ÓÂÔÁÓ¿ (Farmaki E, et al. Am J Perinatol 2007;24:127-135). £ÂÚ·›· ÓÂÔÁÓÒÓ ÌÂ Ì˘ÎËÙȷ΋ ÂÓ‰Ôηډ›Ùȉ·. O Û˘Ó‰˘·ÛÌfi˜ ÏÈÔÛˆÌȷ΋˜ ·ÌÊÔÙÂÚÈΛÓ˘ µ Ì ÊÏÔ˘ÎÔÓ·˙fiÏË Ê¿ÓËΠӷ ÂÈʤÚÂÈ Ï‹ÚË ‡ÊÂÛË Û ηډȷο Ì˘ÎËÙÒÌ·Ù· Û 2 ÚfiˆÚ· ÓÂÔÁÓ¿ Ì ‰ÈÂÈÛ‰˘ÙÈ΋ Ïԛ̈ÍË ·fi Candida albicans Î·È ÂÓ‰Ôηډ›Ùȉ· (Karatza AA, et al. Eur J Pediatr, ËÏÂÎÙÚÔÓÈ΋ ÚÔ‰ËÌÔÛ›Â˘ÛË 17 π·ÓÔ˘·Ú›Ô˘ 2008). ™˘ÁÁÂÓ‹˜ ‚ÚԢΤÏψÛË. ∏ Û˘ÁÁÂÓ‹˜ Ïԛ̈ÍË ·fi Brucella melitensis ÌÔÚ› Ó· ÂΉËψı› Ì ÛÔ‚·Ú‹ ·Ó·Ó¢ÛÙÈ΋ ‰˘Û¯¤ÚÂÈ·. ∏ ıÂÚ·›· Ì ÙÚÈÌÂıÔÚ›ÌË-ÛÔ˘ÏÊ·ÌÂıÔÍ·˙fiÏË, ÚÈÊ·ÌÈΛÓË Î·È ÁÂÓÙ·ÌÈΛÓË ‹Ù·Ó ·ÔÙÂÏÂÛÌ·ÙÈ΋ ÛÙÔ ÙÂÏÂÈfiÌËÓÔ ÓÂÔÁÓfi ·fi ÙË µfiÚÂÈ· ∂ÏÏ¿‰· Ì ·˘Ù‹ ÙËÓ ·Û˘Ó‹ıÈÛÙË ÂΉ‹ÏˆÛË (Sarafidis K, et al. Am J Perinatol 2007;24: 409-412). ¶ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË ÙÚÈۈ̛·˜ 21. ∂ͤٷÛË ‰ÂÈÁÌ¿ÙˆÓ ÔÚÔ‡ ·fi 21 Á˘Ó·›Î˜ Ì ¤Ì‚Ú˘Ô Ì ÙÚÈۈ̛· 21 (ÂȂ‚·ÈˆÌ¤ÓË Ì ηڢfiÙ˘Ô) ¤‰ÂÈÍ fiÙÈ ÔÈ ÙÈ̤˜ Ù˘ ·ÓıÚÒÈÓ˘ Ï·ÎÔ˘ÓÙȷ΋˜ ·˘ÍËÙÈ΋˜ ÔÚÌfiÓ˘ ‹Ù·Ó ·˘Í˶·È‰È·ÙÚÈ΋ 2008;71:248-250

Pediatri May-Jun 08

23-05-08

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™À¡∆√ª∞ ¶∞π¢π∞∆ƒπ∫∞ ¡∂∞ ̤Ó˜ ÛÙÔ ‰Â‡ÙÂÚÔ ÙÚ›ÌËÓÔ Ù˘ ·ËÛ˘ Û ۯ¤ÛË Ì ÙËÓ ÔÌ¿‰· ÂϤÁ¯Ô˘ (Papadopoulou E, et al. Fetal Diagn Ther 2008;23:211-216) Î·È ı· ÌÔÚÔ‡Û·Ó ÂӉ¯Ô̤ӈ˜ Ó· ·ÔÙÂϤÛÔ˘Ó ÂÈÚfiÛıÂÙÔ ‰Â›ÎÙË ÛÙËÓ ÚÔÁÂÓÓËÙÈ΋ ‰È¿ÁÓˆÛË ÙÔ˘ Û˘Ó‰ÚfiÌÔ˘ Down. ŒÊË‚ÔÈ Î·È Î¿ÓÈÛÌ·. ∞fi 924 Ì·ıËÙ¤˜ ËÏÈΛ·˜ 12-18 ÂÙÒÓ ÛÙ· ÷ÓÈ¿, 24% ›¯·Ó ‰ÔÎÈÌ¿ÛÂÈ Î¿ÓÈÛÌ· Î·È 11% ‹Ù·Ó ηıËÌÂÚÈÓÔ› ηÓÈÛÙ¤˜. ∆Ô Î¿ÓÈÛÌ· ‹Ù·Ó ÈÔ Û˘¯Ófi ÛÙÔ˘˜ Ì·ıËÙ¤˜ Ì ηÓÈÛÙ‹ ·‰ÂÏÊfi/·‰ÂÏÊ‹ ‹ ¿Óˆ ·fi ÙÚÂȘ ηÓÈÛÙ¤˜ Ê›ÏÔ˘˜ ‹ Ô˘ ÊÔÈÙÔ‡Û·Ó ÛÙËÓ ÙÂÏÂ˘Ù·›· Ù¿ÍË. ∆· ·ÁfiÚÈ· ¿Ú¯È˙·Ó ÓˆÚ›ÙÂÚ·. √È ¤ÊË‚ÔÈ ¤‰ÂÈ¯Ó·Ó Ó· Â›Ó·È ÂÓËÌÂڈ̤ÓÔÈ ÁÈ· ÙÔ˘˜ Ì·ÎÚÔ¯ÚfiÓÈÔ˘˜ ÎÈÓ‰‡ÓÔ˘˜ Ù˘ ˘Á›·˜ ·fi ÙÔ Î¿ÓÈÛÌ· (Damianaki A, et al.

Child Care Health Dev 2008;34:310-315) À¤ÚÙ·ÛË Î·È ·¯˘Û·ÚΛ·. ∞fi 524 ˘ÁÈ‹ ·È‰È¿ Î·È ˘ÁÈ›˜ ÂÊ‹‚Ô˘˜ ËÏÈΛ·˜ 6-15 ÂÙÒÓ

Paediatriki 2008;71:248-250

·fi ÙË £ÂÛÛ·ÏÔÓ›ÎË, ˘¤Ú‚·Ú· Î·È ·¯‡Û·Úη ‚Ú¤ıËÎ·Ó 21% Î·È 8,4% ÙˆÓ ·ÁÔÚÈÒÓ Î·È 18% Î·È 7,3% ÙˆÓ ÎÔÚÈÙÛÈÒÓ, ·ÓÙ›ÛÙÔȯ·. ∆· ˘¤Ú‚·Ú· Î·È Ù· ·¯‡Û·Úη ·È‰È¿ ›¯·Ó ÛËÌ·ÓÙÈο „ËÏfiÙÂÚ˜ ÙÈ̤˜ Û˘ÛÙÔÏÈ΋˜ ›ÂÛ˘, ‰È·ÛÙÔÏÈ΋˜ ›ÂÛ˘ Î·È ÂÚÈ̤ÙÚÔ˘ ̤Û˘, ˆÛÙfiÛÔ ‰ÂÓ ·Ú·ÙËÚ‹ıËÎ·Ó ‰È·ÊÔÚ¤˜ ÛÙ· Â›‰· ÔÌÔ΢ÛÙ½Ó˘ ÙÔ˘ ÔÚÔ‡ (Papandreou D, et al. Acta Paediatr 2007;96:1819-1823). ∞Ó›¯Ó¢ÛË ‚·ÚËÎÔ˝·˜ Û ·È‰È¿ Û¯ÔÏÈ΋˜ ËÏÈΛ·˜. ∏ ÂÊ·ÚÌÔÁ‹ ˆÙÔ·ÎÔ˘ÛÙÈÎÒÓ ÂÎÔÌÒÓ, ̤ıÔ‰Ô˜ ÁÓˆÛÙ‹ ·fi ÙËÓ ·Ó›¯Ó¢ÛË Ù˘ ‚·ÚËÎÔ˝·˜ ÛÙ· ÓÂÔÁ¤ÓÓËÙ·, Û 196 ·È‰È¿ Û¯ÔÏÈ΋˜ ËÏÈΛ·˜ ÛÙËÓ ∞ÚÁÔÏ›‰· ¤‰ÂÈÍ ¢·ÈÛıËÛ›· 100% ÛÙËÓ ·ÒÏÂÈ· >30 dB, Î·È Â˘·ÈÛıËÛ›· 90% Î·È ÂȉÈÎfiÙËÙ· 64% ÛÙËÓ ·ÒÏÂÈ· ·ÎÔ‹˜ >25 dB (Georgalas C, et al. J Laryngol Otol, ËÏÂÎÙÚÔÓÈ΋ ÚÔ‰ËÌÔÛ›Â˘ÛË 21 ∞ÚÈÏ›Ô˘ 2008), ηıÒ˜ Î·È ÙË ¯ÚËÛÈÌfiÙËÙ· Ù˘ ÌÂıfi‰Ô˘ ÁÈ· ÙËÓ ·Ó›¯Ó¢ÛË Ù˘ ‚·ÚËÎÔ˝·˜ Û ·È‰È¿ Û¯ÔÏÈ΋˜ ËÏÈΛ·˜.

Pediatri May-Jun 08

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¡∂∞ ∞¶√ ∆√ ¢π∞¢π∫∆À√

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¢È·‰ÈÎÙ˘·Î‹ ÂÊ·ÚÌÔÁ‹ BÈ‚ÏÈ·Ú›Ô˘ ÀÁ›·˜ ¶·È‰ÈÔ‡ http://www.childhealthrecord.com ª. £ÂÔ‰ÔÛ›Ô˘, ª. ¢ÈÔÌ‹‰Ô˘˜, ¢. ∑‹ÎÔ˜ ∏ ηٷÁÚ·Ê‹ Ù˘ ۈ̷ÙÈ΋˜ Î·È „˘¯È΋˜ ·Ó¿Ù˘Í˘ ÙÔ˘ ·È‰ÈÔ‡ Á›ÓÂÙ·È ÙȘ ÂÚÈÛÛfiÙÂÚ˜ ÊÔÚ¤˜ Û ÂȉÈο ‚È‚ÏÈ¿ÚÈ·, ÙËÓ ¤Î‰ÔÛË ÙˆÓ ÔÔ›ˆÓ ÂÈÌÂÏÂ›Ù·È ÙÔ ÀÔ˘ÚÁÂ›Ô ÀÁ›·˜. ∆Ô ÂÚÁ·ÛÙ‹ÚÈÔ ¶ÏËÚÔÊÔÚÈ΋˜ ÀÁ›·˜ ÙÔ˘ ÙÌ‹Ì·ÙÔ˜ ¡ÔÛËÏ¢ÙÈ΋˜, ∂∫¶∞, ÛÙԯ‡ÔÓÙ·˜ ÛÙË ‚ÂÏÙ›ˆÛË Ù˘ ηٷÁÚ·Ê‹˜ Î·È ·Ó¿ÎÙËÛ˘ ÙˆÓ ·Ú·¿Óˆ ‰Â‰Ô̤ӈÓ, ·Ó¤Ù˘Í ̛· ËÏÂÎÙÚÔÓÈ΋ ÌÔÚÊ‹ ÙÔ˘ µÈ‚ÏÈ·Ú›Ô˘ ÀÁ›·˜ ¶·È‰ÈÔ‡ (µÀ¶), ÙÔ ÔÔ›Ô ·¢ı‡ÓÂÙ·È Û ÁÔÓ›˜, È·ÙÚÔ‡˜ Î·È Â·ÁÁÂÏ̷ٛ˜ ˘Á›·˜ ÁÂÓÈÎfiÙÂÚ· Î·È ÙÔ ÔÔ›Ô ÂÓ‰¤¯ÂÙ·È Ó· Û˘Ì‚¿ÏÏÂÈ ÛÙË ¯¿Ú·ÍË ÔÏÈÙÈÎÒÓ ˘Á›·˜ ·fi ÙÔ ∂ıÓÈÎfi ™‡ÛÙËÌ· ÀÁ›·˜. ∏ ‰È‡ı˘ÓÛË Ù˘ ÈÛÙÔÛÂÏ›‰·˜ Â›Ó·È http://www.childhealthrecord.com.

∂ÚÁ·ÛÙ‹ÚÈÔ ¶ÏËÚÔÊÔÚÈ΋˜ ÀÁ›·˜, ∆Ì‹Ì· ¡ÔÛËÏ¢ÙÈ΋˜, ∂ıÓÈÎfi Î·È ∫·Ô‰ÈÛÙÚÈ·Îfi ¶·ÓÂÈÛÙ‹ÌÈÔ ∞ıËÓÒÓ AÏÏËÏÔÁÚ·Ê›·: ¢ËÌ‹ÙÚÈÔ˜ ∑‹ÎÔ˜ dimitriszikos@gmail.com ∂ÚÁ·ÛÙ‹ÚÈÔ ¶ÏËÚÔÊÔÚÈ΋˜ ÀÁ›·˜, ∆Ì‹Ì· ¡ÔÛËÏ¢ÙÈ΋˜, ∂ıÓÈÎfi Î·È ∫·Ô‰ÈÛÙÚÈ·Îfi ¶·ÓÂÈÛÙ‹ÌÈÔ ∞ıËÓÒÓ.

√ ¯Ú‹ÛÙ˘ ÌÔÚ› Ó· Â›Ó·È ¤Ó·˜ ÁÔÓ¤·˜, Ô ÔÔ›Ô˜ ÌÔÚ› ÌfiÓÔ Ó· ‰ÂÈ ÙȘ ÏËÚÔÊÔڛ˜, ¤Ó·˜ È·ÙÚfi˜ Ô˘ ÌÔÚ› Ó· ‰ÂÈ Î·È Ó· ÙÚÔÔÔÈ› ÏËÚÔÊÔڛ˜ Î·È Ô Â·ÁÁÂÏÌ·Ù›·˜ ˘Á›·˜ Ô˘ ÌÔÚ› ÂÎÙfi˜ ÙˆÓ ·Ú·¿Óˆ Ó· ÚÔÛı¤ÛÂÈ Î·È Ó· ‰È·ÁÚ¿„ÂÈ ·È‰È·ÙÚÈÎÔ‡˜ ·ÛıÂÓ›˜. ™Â fiϘ ۯ‰fiÓ ÙȘ ÔıfiÓ˜ Ù˘ ÂÊ·ÚÌÔÁ‹˜ ˘¿Ú¯Ô˘Ó ÏËÚÔÊÔڛ˜ Ô˘ ·¢ı‡ÓÔÓÙ·È Î˘Ú›ˆ˜ Û ÁÔÓ›˜ ÂÂÍËÁÒÓÙ·˜ ÙÔ ÂÚȯfiÌÂÓÔ Ù˘ ÔıfiÓ˘. √È ıÂÌ·ÙÈΤ˜ ÂÓfiÙËÙ˜ Ô˘ ·Ó·Ù‡¯ıËÎ·Ó Â›Ó·È ÔÈ ·ÓÙ›ÛÙÔȯ˜ Ô˘ ˘¿Ú¯Ô˘Ó ÛÙÔ ¤ÓÙ˘Ô µÀ¶ Ì ‚ÂÏÙÈÒÛÂȘ Î·È Û˘ÌÏËÚÒÛÂȘ. ∞Ú¯Èο ˘¿Ú¯Ô˘Ó Ë ÂÓfiÙËÙ· Ì ٷ ÁÂÓÈο-‰ËÌÔÁÚ·ÊÈο ÛÙÔȯ›· ÙÔ˘ ·È‰ÈÔ‡. •Â¯ˆÚÈÛÙ‹ οÚÙ· ¤¯ÂÈ ·Ó·Ù˘¯ı› Î·È ÂÈÎÂÓÙÚˆı› Û ÏËÚÔÊÔڛ˜ Ô˘ Ú¤ÂÈ Ó· ÁÓˆÚ›˙ÂÈ Ô È·ÙÚfi˜, fiˆ˜ ·ÏÏÂÚÁ›Â˜, ·ÓÂ¿ÚÎÂȘ ÂÓ˙‡ÌˆÓ, ÛÔ‚·Ú¤˜ ·Ûı¤ÓÂȘ Î·È ·ı‹ÛÂȘ. ∞ÎÔÏÔ˘ı› Ë ÂÓfiÙËÙ· Ì ÏËÚÔÊÔڛ˜ ÁÈ· ÙËÓ ÂÁ΢ÌÔÛ‡ÓË Î·È ÙÔÓ ÙÔÎÂÙfi. ∞ӷʤÚÔÓÙ·È ·Ó·Ï˘ÙÈÎfiÙÂÚ· Ù· ÛÙÔȯ›· ÙˆÓ ÁÔÓ¤ˆÓ Î·È Ù˘¯fiÓ ¯ÚfiÓÈ· ÚÔ‚Ï‹Ì·Ù· ˘Á›·˜. ∏ ηÚ٤Ϸ Ù˘ ·‡ÍËÛ˘ ÂÚÈÏ·Ì‚¿ÓÂÈ ¤Ó· ÈÛ¯˘Úfi ÂÚÁ·ÏÂ›Ô Ô˘ ÂÈÙÚ¤ÂÈ ÙËÓ ÂÌÊ¿ÓÈÛË ÙˆÓ ÛˆÌ·ÙÔÌÂÙÚÈÎÒÓ ÛÙÔȯ›ˆÓ ÙÔ˘ ·È‰ÈÔ‡ ¿Óˆ Û ‰È¿ÁÚ·ÌÌ· ·Ó¿Ù˘Í˘ Ô˘ ·Ú¤¯ÂÈ ÙȘ Ê˘ÛÈÔÏÔÁÈΤ˜ ÙÈ̤˜. ¶·Ú¤¯ÔÓÙ·È ÂÈϤÔÓ ÏËÚÔÊÔڛ˜ ÁÈ· ÙȘ ÚÒÙ˜ ÓÂÔÁÓÈΤ˜ ÂÍÂÙ¿ÛÂȘ Î·È ÙËÓ „˘¯ÔÎÈÓËÙÈ΋ ·Ó¿Ù˘ÍË. ∏ ηÚ٤Ϸ ÙˆÓ ÂÌ‚ÔÏÈ·ÛÌÒÓ ÂÌÊ·Ó›˙ÂÈ Û˘ÁÎÂÓÙÚˆÙÈο ÙÔ ‰È¿ÁÚ·ÌÌ· ÙˆÓ ˘Ô¯ÚˆÙÈÎÒÓ ÂÌ‚ÔÏ›ˆÓ ÛÙËÓ ∂ÏÏ¿‰· Ì ÙË ‰˘Ó·ÙfiÙËÙ· ÚÔÛı‹Î˘ ÂÈϤÔÓ ÂÌ‚ÔÏ›ˆÓ Î·È Î·Ù·¯ÒÚËÛ˘ Ù˘ ËÌÂÚÔÌËÓ›·˜ Î·È ÙÔ˘ ›‰Ô˘˜ ÙÔ˘ ÂfiÌÂÓÔ˘ ÚÔÁÚ·ÌÌ·ÙÈṲ̂ÓÔ˘ ÂÌ‚ÔÏÈ·ÛÌÔ‡. √ Â·ÁÁÂÏÌ·Ù›·˜ ˘Á›·˜ ·ÏÏ¿ Î·È Ô ÁÔÓ¤·˜ ¤¯Ô˘Ó ÙË ‰˘Ó·ÙfiÙËÙ· Ó· ‰Ô˘Ó ÙÔ ¯ÚÔÓԉȿÁÚ·ÌÌ· ÂÌ‚ÔÏÈ·ÛÌÔ‡ ÙÔ˘ ·È‰ÈÔ‡ Ì ÂÈÛËÌ·Ṳ̂ÓË ÙËÓ ÂÚ›Ô‰Ô Ô˘ ‰È·Ó‡ÂÈ. ™Â ÂÚ›ÙˆÛË Ô˘ Ô Û˘Ó‰˘·ÛÌfi˜ ÂÌ‚ÔÏÈ·ÛÌÒÓ Â›Ó·È Ï·Óı·Ṳ̂ÓÔ˜, ÙÔ ÛÊ¿ÏÌ· ÂÈÛËÌ·›ÓÂÙ·È ·fi ÙÔ Û‡ÛÙËÌ·. ∏ ÙÂÏÂ˘Ù·›· οÚÙ· ÂÌÊ·Ó›˙ÂÈ ÙÚ›· ¤ÁÁÚ·Ê· Ô˘ Â›Ó·È ··Ú·›ÙËÙ· Ó· Û˘ÌÏËÚˆıÔ‡Ó ÁÈ· ÙËÓ ÂÁÁÚ·Ê‹ ÙÔ˘ ·È‰ÈÔ‡ ÛÙÔ ÏË-

¶·È‰È·ÙÚÈ΋ 2008;71:251-252

Pediatri May-Jun 08

23-05-08

252

15:58

™ÂÏ›‰·252

NEWS FROM THE INTERNET ÍÈ·Ú¯Â›Ô ‹ ÛÙÔ Û¯ÔÏ›Ô, ηıÒ˜ Â›Û˘ Î·È Î·Ù¿ ÙÔ˘˜ ÂÚÈÔ‰ÈÎÔ‡˜ ÂϤÁ¯Ô˘˜. À¿Ú¯ÂÈ ÂÈϤÔÓ Ë ‰˘Ó·ÙfiÙËÙ· ËÏÂÎÙÚÔÓÈ΋˜ Û˘ÌÏ‹ÚˆÛ˘ Î·È ÂÎÙ‡ˆÛ˘. ∏ ÌÂÙ¿‚·ÛË ÛÙÔÓ ËÏÂÎÙÚÔÓÈÎfi Ê¿ÎÂÏÔ ˘Á›·˜ ÙÔ˘ ·È‰ÈÔ‡ ÌÔÚ› Ó· Û˘Ì‚¿ÏÏÂÈ ÛËÌ·ÓÙÈο ÛÙËÓ ÚÔ·ÁˆÁ‹ Ù˘ ˘Á›·˜ ÙÔ˘ ·È‰ÈÔ‡ Î·È Ó· ·ÔÙÂϤÛÂÈ ÈÛ¯˘Úfi ÂÚÁ·ÏÂ›Ô ÁÈ· ÙÔ˘˜ ÁÔÓ›˜, ÙÔ˘˜ Â·ÁÁÂÏ̷ٛ˜ ˘Á›·˜ Î·È ÙÔÓ ÎÚ·ÙÈÎfi ۯ‰ȷÛÌfi. ™ÙËÓ ∂ÏÏ¿‰·, fiˆ˜ Î·È Û ÔÏϤ˜ ¿ÏϘ ¯ÒÚ˜, ‰È·ÙËÚÂ›Ù·È Ô ·Ú·‰ÔÛÈ·Îfi˜ ¯ÂÈÚfiÁÚ·ÊÔ˜ Ê¿ÎÂÏÔ˜, ÂÓÒ ÎÚ›ÓÂÙ·È ÛËÌ·ÓÙÈ΋ Ë Â›Û¢ÛË ÙˆÓ ·ÏÏ·ÁÒÓ ÚÔ˜ ÙËÓ ËÏÂÎÙÚÔÓÈ΋ ˘Á›· Î·È ÛÙ· ·È‰È¿.

“√ ∫fiÛÌÔ˜ Î·È Ë Ê‡ÛË Á‡Úˆ Ì·˜” Shari Whittaker - Tyro, 10 ÂÙÒÓ, N¤· ∑ËÏ·Ó‰›· ∆˘ÊÏfi ·È‰› “∆· Ù˘ÊÏ¿ ·È‰È¿ ˙ˆÁÚ·Ê›˙Ô˘Ó”, ÕÓÓ· §·Ô˘Ù¿ÚË-°ÎÚÈÙ˙¿Ï·, ∞ı‹Ó· 2006

“The World and nature around us”, Shari Whittaker - Tyro, 10 years old, New Zealand µlind child “Blind children paint”, Anna Laoutari-Gritzala, Athens 2006

Paediatriki 2008;71:251-252

Pediatri May-Jun 08

23-05-08

15:58

™ÂÏ›‰·253

∫§π¡π∫√ ∫√Àπ∑

253

∫ÏÈÓÈÎfi QUIZ ∞¶∞¡∆∏™∏ ¢È¿ÁÓˆÛË: ™˘ÛÙËÌ·ÙÈÎfi˜ ÂÚ˘ıËÌ·Ù҉˘ χÎÔ˜ – „‡¯ˆÛË √ Ó¤Ô˜ ÂÚÁ·ÛÙËÚÈ·Îfi˜ ¤ÏÂÁ¯Ô˜ Ô˘ ¤ÁÈÓ ¤‰ÂÈÍÂ: WBC = 2770/mm3, PLT = 60.000/mm3, Hb = 9,01 g/dl, ∆∫∂ = 80 mm/1Ë h, χΈ̷ Ô‡ÚˆÓ 24ÒÚÔ˘ = 835 mg/24h, Ôχ ·˘ÍË̤Ó˜ ÙÈ̤˜ Û οÔȘ ˘ÔÔÌ¿‰Â˜ ·ÓÔÛÔÛÊ·ÈÚÈÓÒÓ (IgG = 1620 mg/dl, IgE = 5750 IU/ml), C3 Î·È C4 ȉȷÈÙ¤Úˆ˜ ¯·ÌËÏ¿, ∞¡∞ Î·È Î‡ÙÙ·Ú· χÎÔ˘ ıÂÙÈο Î·È Ù· ·ÓÙÈÛÒÌ·Ù· ¤Ó·ÓÙÈ Î·Ú‰ÈÔÏÈ›Ó˘ ·˘ÍË̤ӷ. ∏ ¤ÊË‚Ë, ÏÔÈfiÓ, ¤·Û¯Â ·fi Û˘ÛÙËÌ·ÙÈÎfi ÂÚ˘ıËÌ·ÙÒ‰Ë Ï‡ÎÔ (™∂§) Ì ¤ÓÙÔÓË ÙËÓ ÚÔÛ‚ÔÏ‹ ÙÔ˘ ÎÂÓÙÚÈÎÔ‡ Ó¢ÚÈÎÔ‡ Û˘ÛÙ‹Ì·ÙÔ˜ (∫¡™). √ ™∂§ Â›Ó·È ÓfiÛÔ˜ ÙÔ˘ Û˘Ó‰ÂÙÈÎÔ‡ ÈÛÙÔ‡ ¿ÁÓˆÛÙ˘ ·ÈÙÈÔÏÔÁ›·˜, Ì ÔÏ˘ÔÚÁ·ÓÈ΋ Û˘ÌÌÂÙÔ¯‹. §fiÁˆ Ù˘ ‰ËÌÈÔ˘ÚÁ›·˜ ·˘ÙÔ·ÓÙÈÛˆÌ¿ÙˆÓ ¤Ó·ÓÙÈ ·˘ÙÔ·ÓÙÈÁfiÓˆÓ, ÚÔηÏÂ›Ù·È ÊÏÂÁÌÔÓ‹ Î·È ‚Ï¿‚Ë Û ‚·ÛÈο fiÚÁ·Ó· ÛÙfi¯Ô˘˜, fiˆ˜ Â›Ó·È ÔÈ ÓÂÊÚÔ›, Ù· ·ÈÌÔÔÈËÙÈο ·ÙÙ·Ú· Î·È ÙÔ ∫¡™ (1). °È· ÙË ‰È¿ÁÓˆÛË ÙÔ˘ ™∂§ ·ÚÎÔ‡Ó 4 ·fi Ù· 11 ÎÚÈÙ‹ÚÈ· Ô˘ ¤¯ÂÈ ıÂÛ›ÛÂÈ ÙÔ ∞ÌÂÚÈηÓÈÎfi ∫ÔÏϤÁÈÔ Ù˘ ƒÂ˘Ì·ÙÔÏÔÁ›·˜ (2): 1. EÍ¿ÓıËÌ· ·ÚÂÈÒÓ Ù‡Ô˘ “ÂÙ·ÏÔ‡‰·˜” 2. ¢ÈÛÎÔÂȉ¤˜ ÂÍ¿ÓıËÌ· 3. ºˆÙÔ¢·ÈÛıËÛ›· 4. ŒÏÎË ÛÙÔ ÛÙÔÌ·ÙÈÎfi ‚ÏÂÓÓÔÁfiÓÔ Î·È ÙÔ ÚÈÓÔÊ¿Ú˘ÁÁ· 5. ∞ÚıÚ›Ùȉ·, ·ÚıÚ·ÏÁ›Â˜ 6. √ÚÔÁÔÓ›Ùȉ· 7. ¢È·Ù·Ú·¯¤˜ ·fi ÙÔ˘˜ ÓÂÊÚÔ‡˜ (Â›ÌÔÓË ÚˆÙÂ˚ÓÔ˘Ú›· >0,5 g/24ˆÚÔ, ‡·ÚÍË Î˘Ï›Ó‰ÚˆÓ) 8. ¡Â˘ÚÔÏÔÁÈΤ˜ ‰È·Ù·Ú·¯¤˜ (Û·ÛÌÔ›, „‡¯ˆÛË Î.Ù.Ï.)

9. ∞ÈÌ·ÙÔÏÔÁÈΤ˜ ‰È·Ù·Ú·¯¤˜ (·ÈÌÔÏ˘ÙÈ΋ ·Ó·ÈÌ›· Ì ‰ÈÎÙ˘ÔÂÚ˘ıÚÔ΢ÙÙ¿ÚˆÛË ‹ Ï¢ÎÔÂÓ›· ‹ ıÚÔÌ‚Ô΢ÙÙ·ÚÔÂÓ›·) 10. £ÂÙÈο ·ÓÙÈ˘ÚËÓÈο ·ÓÙÈÛÒÌ·Ù· (∞¡∞) 11. ∞ÓÔÛÔÏÔÁÈΤ˜ ‰È·Ù·Ú·¯¤˜: ·ÓÙÈÛÒÌ·Ù· ηٿ Ù˘ ‰ÈÏ‹˜ ¤ÏÈη˜ ÙÔ˘ DNA (antidsDNA) ‹ ·ÓÙÈÛÒÌ·Ù· ηٿ Sm ‹ ıÂÙÈο ·ÙÙ·Ú· χÎÔ˘ ‹ „¢‰Ò˜ ıÂÙÈ΋ ·ÓÙ›‰Ú·ÛË ÁÈ· Û‡ÊÈÏË (VDRL). ™ÙÔ ÂÚÈÛÙ·ÙÈÎfi Ô˘ ÂÚÈÁÚ¿ÊÂÙ·È, ÏËÚÔ‡ÓÙ·È 9 ÎÚÈÙ‹ÚÈ·, fï˜ ȉȷ›ÙÂÚÔ ÂӉȷʤÚÔÓ ·ÚÔ˘ÛÈ¿˙ÂÈ Ë Û˘ÌÌÂÙÔ¯‹ ÙÔ˘ ∫¡™, ηıÒ˜ Ë ¤ÊË‚Ë ÂΉ‹ÏˆÛÂ Î·È ÂÈÎfiÓ· „‡¯ˆÛ˘. ∏ Û˘¯ÓfiÙËÙ· Ù˘ Ó¢ÚÔ„˘¯È·ÙÚÈ΋˜ Û˘Ì-

ÌÂÙÔ¯‹˜ ÛÙÔ ™∂§, Û ‰È¿ÊÔÚ˜ ·Ó·ÊÔÚ¤˜, Î˘Ì·›ÓÂÙ·È ·fi 14-75% (3), Ì ÈÔ Û˘¯Ófi ÙÔ Â‡ÚÔ˜ ÌÂٷ͇ 25-35% . ™˘Ó‹ıˆ˜ ÂΉËÏÒÓÂÙ·È Ì¤Û· ÛÙÔÓ ÚÒÙÔ ¯ÚfiÓÔ ·fi ÙË ‰È¿ÁÓˆÛË (4,5), ·ÏÏ¿ ˘ÔÛÙËÚ›˙ÂÙ·È fiÙÈ Î¿ÔȘ ÊÔÚ¤˜ ÚÔËÁÂ›Ù·È ÙˆÓ ¿ÏÏˆÓ ÂΉËÏÒÛÂˆÓ ÙÔ˘ ™∂§ ‹ Û˘Ì‚·›ÓÂÈ Û ÔÔÈÔ‰‹ÔÙ ¯ÚÔÓÈÎfi ÛËÌÂ›Ô ÛÙËÓ ÔÚ›· Ù˘ ÓfiÛÔ˘ (6). √È Ó¢ÚÔ„˘¯È·ÙÚÈΤ˜ ÂΉËÏÒÛÂȘ ÙÔ˘ ™∂§ ÂÚÈÏ·Ì‚¿ÓÔ˘Ó ÎÂÊ·Ï·ÏÁ›Â˜, ‰È·Ù·Ú·¯¤˜ Ù˘ ‰È¿ıÂÛ˘ (ηٿıÏÈ„Ë, ΢ÎÏÔı˘ÌÈÎfiÙËÙ·, ·Á¯Ò‰Ë Ó‡ڈÛË, ÚÔ‚Ï‹Ì·Ù· Û˘ÌÂÚÈÊÔÚ¿˜), Ì·ıËÛȷΤ˜ ‰È·Ù·Ú·¯¤˜, Û·ÛÌÔ‡˜, ÂÚÈÊÂÚÈ΋ Ó¢ÚÔ¿ıÂÈ·, „‡¯ˆÛË, ÂÁÎÂÊ·ÏÈÎfi ÂÂÈÛfi‰ÈÔ, ¯ÔÚ›·, ·ÔÌ˘ÂÏÈÓˆÙÈο Û‡Ó‰ÚÔÌ· Î·È Èı·ÓÒ˜ Î·È ·ÚÎÂÙ¤˜ ¿ÏϘ (3,4,5,7,9). ∆Ô ∞ÌÂÚÈηÓÈÎfi ∫ÔÏϤÁÈÔ Ù˘ ƒÂ˘Ì·ÙÔÏÔÁ›·˜ (ACR) ¤¯ÂÈ ÂΉÒÛÂÈ ÔÚÈÛÌÔ‡˜-ÎÚÈÙ‹ÚÈ· ÁÈ· 19 Ó¢ÚÔ„˘¯È·ÙÚÈο Û‡Ó‰ÚÔÌ·, ‰›ÓÔÓÙ·˜ ¤ÌÊ·ÛË Û ÎÚÈÙ‹ÚÈ· ·ÔÎÏÂÈÛÌÔ‡ (6,8). ∆· ÎÚÈÙ‹ÚÈ· ·˘Ù¿ ‰ËÌÈÔ˘ÚÁ‹ıËÎ·Ó ÁÈ· ÂÚ¢ÓËÙÈÎÔ‡˜ ÛÎÔÔ‡˜, ·ÏÏ¿ ÌÔÚÔ‡Ó Ó· ·ÔÙÂϤÛÔ˘Ó Î·È ‚Ô‹ıËÌ· ÛÙÔÓ ÎÏÈÓÈÎfi ÁÈ·ÙÚfi Ô˘ ·ÓÙÈÌÂÙˆ›˙ÂÈ ·ÛıÂÓ›˜ Ì ‰È·Ù·Ú·¯¤˜ ÙÔ˘ ∫¡™. ∏ Û˘¯ÓfiÙËÙ· ÂÌÊ¿ÓÈÛ˘ Ù˘ „‡¯ˆÛ˘ Î˘Ì·›ÓÂÙ·È ÌÂٷ͇ 3-36% ÛÙÔ˘˜ ·ÛıÂÓ›˜ Ì ™∂§ Î·È Ó¢ÚÔ„˘¯È·ÙÚÈΤ˜ ÂΉËÏÒÛÂȘ (4,5,9). ∂›Ó·È ÌÈ· ηٿÛÙ·ÛË Ô˘ ‡ÎÔÏ· ı· ÌÔÚÔ‡Û ӷ ‰È·Ê‡ÁÂÈ ÙË ‰È¿ÁÓˆÛË Î·È Ó· ηı˘ÛÙÂÚ‹ÛÂÈ Ó· ÂÎÙÈÌËı›, ȉȷ›ÙÂÚ· Û ÌÈ· ÂÚ›ÙˆÛË fiˆ˜ ·˘Ù‹ Ô˘ ÂÚÈÁÚ¿ÊÂÙ·È, fiÔ˘ ÙÔ ¤ÓÙÔÓ· ‰È·Ù·Ú·Á̤ÓÔ ÔÈÎÔÁÂÓÂÈ·Îfi ÂÚÈ‚¿ÏÏÔÓ ‰ÈηÈÔÏÔÁÔ‡Û ÙËÓ Î·Ù¿ÛÙ·ÛË ÛÙËÓ ÔÔ›· ›¯Â ÂÚȤÏıÂÈ ÙÔ ·È‰› Î·È Ô‰ËÁÔ‡Û ÙË ‰È·ÁÓˆÛÙÈ΋ ÛΤ„Ë ÚÔ˜ ¿ÏÏÔ˘˜ ‰ÚfiÌÔ˘˜. ª·˙› Î·È Ì ÙȘ ¿ÏϘ ‰È·Ù·Ú·¯¤˜ ÙÔ˘ ∫¡™ ıˆÚÔ‡ÓÙ·È ÚÔ¿ÁÁÂÏÔÈ Î·È ÚÔÁÓˆÛÙÈÎÔ› ‰Â›ÎÙ˜ Â¤Ï¢Û˘ ÒÛÂˆÓ Ù˘ ÓfiÛÔ˘ Î·È ÔÚÁ·ÓÈ΋˜ ‚Ï¿‚˘, ÂÓÒ ·fi ÌfiÓÔÈ ÙÔ˘˜ Â›Ó·È ˘‡ı˘ÓÔÈ ÁÈ· ÛÔ‚·Úfi Ï‹ÁÌ· ÛÙËÓ ÔÈfiÙËÙ· ˙ˆ‹˜, ÁÈ· ·ÓÈηÓfiÙËÙ· ‰ÈÂÎÂÚ·›ˆÛ˘ Ù˘ ηıËÌÂÚÈÓfiÙËÙ·˜ Î·È Â›Ó·È ·fi ÙȘ ·ÚȘ ·Èٛ˜ ı·Ó¿ÙÔ˘ (3,5). ™ÙȘ ·ÂÈÎÔÓÈÛÙÈΤ˜ ÂÍÂÙ¿ÛÂȘ (Ì·ÁÓËÙÈ΋˘ÔÏÔÁÈÛÙÈ΋ ÙÔÌÔÁÚ·Ê›·) ÌÔÚ› Ó· ÌËÓ ˘¿Ú¯Ô˘Ó Â˘Ú‹Ì·Ù·. ∫¿ÔÈÔÈ ÂÚ¢ÓËÙ¤˜ ·Ó·Ê¤ÚÔ˘Ó fiÙÈ ÛÙȘ ÂÚÈÙÒÛÂȘ ™∂§ Ì Ó¢ÚÔ„˘¯È·ÙÚÈΤ˜ ‰È·Ù·Ú·¯¤˜ ·Ó¢ڛÛÎÔÓÙ·È Û˘¯ÓfiÙÂÚ· ¶·È‰È·ÙÚÈ΋ 2008;71:247,253-254

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CLINICAL QUIZ ·˘ÍË̤ӷ ·ÓÙÈÛÒÌ·Ù· ¤Ó·ÓÙÈ Î·Ú‰ÈÔÏÈ›Ó˘, ÏÈÁfiÙÂÚÔ ÔÛÔÛÙfi ·˘ÍËÌ¤ÓˆÓ anti-dsDNA (5), ·˘ÍË̤ӷ Â›‰· ·ÓÙÈʈÛÊÔÏÈȉÈÎÒÓ ·ÓÙÈۈ̿وÓ, Ô˘ Û˘Ó‰¤ÔÓÙ·È Ì ·˘ÍË̤ÓË Â›ÙˆÛË ÂÁÎÂÊ·ÏÈÎÒÓ ÂÂÈÛÔ‰›ˆÓ (9), ·ÏÏ¿ ÁÂÓÈο Ù¤ÙÔÈ· Û˘ÌÂÚ¿ÛÌ·Ù· ‰ÂÓ Â›Ó·È ÈÛ¯˘Ú¿, ÒÛÙ ӷ ÌÔÚÔ‡Ó Ó· ÂÊ·ÚÌÔÛÙÔ‡Ó Â˘Ú¤ˆ˜ ÛÙËÓ ÎÏÈÓÈ΋ Ú¿ÍË. £ÂÚ·¢ÙÈο, ÛÙȘ ÂÚÈÙÒÛÂȘ ™∂§ Ì ÂΉËÏÒÛÂȘ ·fi ÙÔ Ó¢ÚÈÎfi Û‡ÛÙËÌ·, ¯ÚËÛÈÌÔÔÈÂ›Ù·È Î˘Ú›ˆ˜ Ô Û˘Ó‰˘·ÛÌfi˜ ˘„ËÏÒÓ ‰fiÛÂˆÓ Ú‰ÓÈ˙ÔÏfiÓ˘ Î·È Î˘ÙÙ·ÚÔÛÙ·ÙÈÎÒÓ, ΢ÎÏÔʈÛÊ·Ì›‰Ë˜ ‹ ·˙·ıÂÈÔÚ›Ó˘ (3,4). ∏ ÚfiÁÓˆÛË ÙˆÓ ·ÛıÂÓÒÓ ·˘ÙÒÓ ¤¯ÂÈ ‚ÂÏÙȈı› Ù· ÙÂÏÂ˘Ù·›· ¯ÚfiÓÈ·, ·ÏÏ¿ ÔÈ ÌfiÓÈ̘ ‚Ï¿‚˜ Â›Ó·È Û˘¯ÓfiÙÂÚ˜ Î·È Ë ıÓËÛÈÌfiÙËÙ· Â›Ó·È ˘„ËÏfiÙÂÚË Û ۯ¤ÛË Ì ÙȘ ÂÚÈÙÒÛÂȘ fiÔ˘ ‰ÂÓ ˘¿Ú¯ÂÈ ÚÔÛ‚ÔÏ‹ ÙÔ˘ ∫¡™ (3,4,5).

µÈ‚ÏÈÔÁÚ·Ê›· 1. Klein-Gitelman MS, Miller ML. Systemic lupus erythematosus. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson textbook of pediatrics. 17th ed.

Philadelphia: Saunders; 2002. p. 809-813.

2. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, et al. The 1982 revised criteria for the

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classification of systemic lupus erythematosus.

Arthritis Rheum 1982;25:1271-1277.

3. Jönsen A, Bengtsson AA, Nived O, Ryberg B, Sturfelt G. Outcome of neuropsychiatric systemic lupus erythematosus within a defined Swedish population: increased morbidity but low mortality. Rheumatology (Oxford) 2002;41:1308-1312.

4. Benseler SM, Silverman ED. Neuropsychiatric involvement in pediatric systemic lupus erythematosus. Lupus 2007;16:564-571.

5. Yu HH, Lee JH, Wang LC, Yang YH, Chiang BL. Neuropsychiatric manifestations in pediatric systemic lupus erythematosus: a 20-year study. Lupus 2006;15:651-657.

6. Nived O, Sturfelt G, Liang MH, De Pablo P. The ACR nomenclature for CNS lupus revisited. Lupus 2003;12:872-876.

7. Sibbitt WL Jr, Brandt JR, Johnson CR, Maldonado ME, Patel SR, Ford CC, Bankhurst AD, Brooks WM. The incidence and prevalence of neuropsychiatric syndromes in pediatric onset systemic lupus erythematosus. J Rheumatol 2002;29:1536-1542.

8. The American College of Rheumatology nomenclature and case definitions for neuropsychiatric lupus syndromes. Arthritis Rheum 1999;42:599-608.

9. Harel L, Sandborg C, Lee T, von Scheven E. Neuropsychiatric manifestations in pediatric systemic lupus erythematosus and association with antiphospholipid antibodies. J Rheumatol 2006;33:1873-1877.

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2-4 πÔ˘Ó›Ô˘ 2008

Perinatal Medicine 2008 Contact: Kate Melton Tel.: 02-0-89-798-300 Fax: 02-0-89-796-700 E-mail: kmelton@hamptonmedical.com

Harrogate, England, United Kingdom

13 πÔ˘Ó›Ô˘ 2008

Séminaire de Dermatologie Pédiatrique de l'Hôpital Necker Enfants Malades Contact: SDPHN 2008 Tel.: 33-0-153-858-262 Fax: 33-0-153-858-283 E-mail: sdphn2008info@mci-group.com

Paris, France

13-15 πÔ˘Ó›Ô˘ 2008

46Ô ¶·ÓÂÏÏ‹ÓÈÔ ¶·È‰È·ÙÚÈÎfi ™˘Ó¤‰ÚÈÔ ¶ÏËÚÔÊÔڛ˜: AC&C International ∆ËÏ.: 0030-210-6889130 Fax: 0030-210-6844777 E-mail: pedcongress@acnc.gr Website:www.pediatric-congress.gr

COREXPO ∂ÎıÂÛÈ·Îfi ∫¤ÓÙÚÔ ∫¤Ú΢ڷ˜, ∫¤Ú΢ڷ

19-21 πÔ˘Ó›Ô˘ 2008

NHS 2008 - Beyond Newborn Hearing Screening: Infant and Childhood Hearing in Science and Clinical Practice Contact: Meeting Organiser Tel.: 39-0-498-601-818 Fax: 39-0-498-602-389 E-mail: meet@meetandwork.com Website: www.nhs2008.org

Cernobbio, Italy

19-21 ™ÂÙÂÌ‚Ú›Ô˘ 2008

™‡Á¯ÚÔÓ˜ ∂ÍÂÏ›ÍÂȘ Î·È ¶ÚÔÔÙÈΤ˜ ÛÙËÓ ¶·È‰È·ÙÚÈ΋ 2008 √ÚÁ¿ÓˆÛË: ∂ÏÏËÓÈÎfi ∫ÔÏϤÁÈÔ ¶·È‰È¿ÙÚˆÓ ¶ÏËÚÔÊÔڛ˜: The Mastermind Group ∆ËÏ: 210-6827405, 6839690 Fax: 210-6827409 E-mail: estasinou@tmg.gr Website: www.mastermind.gr

ƒfi‰Ô˜

20-23 ™ÂÙÂÌ‚Ú›Ô˘ 2008

47th European Society for Pediatric Endocrinology Meeting Contact: Pauline Bertrand, ESPE Secretariat, BioScientifica, Euro House, 22 Apex Court. Woodlands, Bristol, BS32 4JT, UK Tel.: 44-0-01-454-642-208 Fax: 44-0-1-454-642-222 Website: www.espe2008.org

Istanbul, Turkey

25-27 ™ÂÙÂÌ‚Ú›Ô˘ 2008

European Conference on Paediatric Anaesthesia ¶ÏËÚÔÊÔڛ˜: Aktina-City Congress ∆ËÏ.: 210-3232433 Fax: 210-3232338 E-mail: feapa2008@aktinacitycongress.com

•ÂÓÔ‰Ô¯Â›Ô “Hilton”, ∞ı‹Ó·

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26-28 ™ÂÙÂÌ‚Ú›Ô˘ 2008

3Ë ∂ÈÛÙËÌÔÓÈ΋ ™˘Ó¿ÓÙËÛË Ù˘ ∂ÏÏËÓÈ΋˜ ∞η‰ËÌ›·˜ ¶·È‰È·ÙÚÈ΋˜ ™Î·Êȉȿ ∏Ï›·˜ - ¢. ¶ÂÏÔfiÓÓËÛÔ˜ ¶ÏËÚÔÊÔڛ˜: Firstevent ∂.¶.∂. ∆ËÏ.: 210-8228950 Fax: 210-8228901 E-mail: info@firstevent.gr Website: www.firstevent.gr

•ÂÓÔ‰Ô¯Â›Ô “Aldemar Olympian Village”

2-6 √ÎÙˆ‚Ú›Ô˘ 2008

40th Congress of the International Society of Paedriatic Oncology Contact: Conference Secretariat: SIOP 2008 Secretariat, c/o MCI Berlin Office, Ines Paschen, Markgrafenstrasse 56, 10117 Berlin Tel.: 49-30-204-590 Fax: 49-302-045-950 E-mail: siop2008@cpb.de Website: www.siop2008.de

Berlin, Germany

11-14 √ÎÙˆ‚Ú›Ô˘ 2008

2008 National Conference & Exhibition of the American Academy of Pediatrics Contact: PediaLink Customer Service Tel.: 866-843-2271 E-mail: csc@aap.org / kidsdocs@aap.org

Boston, MA, United States

23-26 √ÎÙˆ‚Ú›Ô˘ 2008

31st Congress of the Union of Middle-Eastern & Mediterranean Pediatric Societies Contact: Prof. Ahmed Sahloul Essoussi Tel.: +216.73.219494/221411 Fax: +216.73.224899 E-mail: sahloulessoussi@ms.tn

Tunis, Tunisia

24-28 √ÎÙˆ‚Ú›Ô˘ 2008

EAP 2008 (formerly Europeadiatrics) 2nd Congress of the European Academy of Paediatrics Nice, France Contact: Daniela Morein-Bar Tel.: 41-229-080-488 Fax: 41-227-322-850 E-mail: paediatrics@kenes.com Website: www.kenes.com/paediatrics/index.asp

Nice, France

17-19 ¡ÔÂÌ‚Ú›Ô˘ 2008

Ist International Congress of UENPS (Union of European Neonatal and Perinatal Societies) Global Neonatology & Perinatology Contact: L. Zmuda Tel.: 39-0-680-693-320 Fax: 39-0-680-692-586 E-mail: uenps2008@emec-roma.com Website: www.uenps2008.eu/homepage.htm

Rome, Italy