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The
th Annual Meeting of March 21-22, 2015 The Endocrine Society and The Diabetes Association of the R.O.C. (Taiwan)
SE-3-1
The Genetic Study in Primary Aldosteronism Takashi Yoneda Division of Endocrinology and Metabolism, Kanazawa University Hospital, Japan
KCNJ5 gene mutations are reported to be frequently identified in aldosterone producing adenomas (APA). We performed genetic study in 27 APAs (9 micro- and 15 macro- APAs) and identified somatic KCNJ5 mutations in 20 of 27 APAs (83.3%). The prevalence of KCNJ5 mutation in micro- and macro-APAs was 78% (7/9) and 87% (13/15), respectively and there was no significant difference in the prevalence (P=0.09). We examined clinical characteristics difference between patients with micro- and macro-APAs. Serum potassium level in the patients with macro APAs (3.2±0.8mEq/L, n=13) was lower than that of micro-APA (4.0±0.6 mEq/L, n=7) (p<0.05). There were no significant differences in age (54±13 vs 49±14 years old.), blood pressure (156±16/91±14 vs 156±36/96±20 mmHg), plasma aldosterone concentration (164±73 vs 259±141 pg/mL) and plasma renin activity (0.3±0.2 vs 0.3±0.2 ng/mL/h) between micro- and macro-APAs with KCNJ5 gene mutations. Tumor size did not seem to be related to clinical characteristics other than serum potassium level. We also identified some interesting cases with APA harboring somatic KCNJ5 mutations such as two cases with recurrence of primary aldosteronism in remaining adrenal gland long after adrenalectomy, a case of multiple aldosterone producing microadenomas with different mutations of KCNJ5 gene, and two cases with unilateral APA demonstrating diagnostic discrepancy in AVS between with and without ACTH stimulation.
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