两例家族性醛固酮增多症Ⅲ型患者的遗传学及临床特点  

Genetic and clinical features of two cases with familial hyperaldosteronism typeⅢ

作　　者：王宇 童安莉 高寅洁 崔云英 周玥 李玉秀 Wang Yu;Tong Anli;Gao Yinjie;Cui Yunying;Zhou Yue;Li Yuxiu(Key Laboratory of Endocrinology,National Health Commission Department of Endocrinology,Peking Union Medical College Hospital,Beijing 100730,China)

机构地区：[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

出　　处：《中华内分泌代谢杂志》2024年第2期164-167,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金(82070822);中央高水平医院临床科研业务费(2022-PUMCH-C-028)。

摘　　要：家族性醛固酮增多症Ⅲ型极其罕见,国内尚无报道。本文报道2例家族性醛固酮增多症Ⅲ型(FH-Ⅲ)病例,患者均在儿童早期出现严重高血压和低钾血症,1例患者的肾上腺明显增大并在20岁时出现库欣综合征的临床表现,双肾上腺切除后患者的症状完全缓解;另1例患者的影像学显示肾上腺正常,用螺内酯治疗后患者的血压和血钾均得到良好控制。这2例患者均存在KCNJ5胚系突变,分别为c.433G>C,p.Glu145Gln和c.452G>A,p.Gly151Glu。Familial hyperaldosteronism typeⅢ(FH-Ⅲ)is extremely rare,and there are no reported cases in China.Herein,we reported two cases with FHⅢ,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.

关 键 词：家族性醛固酮增多症Ⅲ型 KCNJ5基因突变 临床特征 

分 类 号：R586.24[医药卫生—内分泌]