Genetic and clinical features of two cases with familial hyperaldosteronism type Ⅲ

VernacularTitle:两例家族性醛固酮增多症Ⅲ型患者的遗传学及临床特点
Author: Yu WANG ¹ ; Anli TONG ; Yinjie GAO ; Yunying CUI ; Yue ZHOU ; Yuxiu LI
Author Information

1. 中国医学科学院北京协和医学院北京协和医院内分泌科，国家卫生健康委员会内分泌重点实验室，北京　100730
Keywords: Familial hyperaldosteronism type Ⅲ; KCNJ5 germline mutation; clinical features
From: Chinese Journal of Endocrinology and Metabolism 2024;40(2):164-167
CountryChina
Language:Chinese
Abstract: Familial hyperaldosteronism type Ⅲ(FH-Ⅲ) is extremely rare, and there are no reported cases in China. Herein, we reported two cases with FH Ⅲ, both of which presented with severe hypertension and hypokalemia in their early childhood. One patient had significantly enlarged adrenal glands and developed clinical manifestations of Cushing′s syndrome at the age of 20. Complete relief of symptoms was achieved after bilateral adrenalectomy. The other case had normal adrenal imaging, and with spironolactone treatment, blood pressure and potassium levels were well-controlled. Both cases had germline mutation of KCNJ5 gene which were c. 433G>C(p.Glu145Gln) and c. 452G>A(p.Gly151Glu), respectively.