遗传 ›› 2022, Vol. 44 ›› Issue (11): 1072-1078.doi: 10.16288/j.yczz.22-197

• 遗传资源 • 上一篇    下一篇

一例家族性醛固酮增多症II型合并WFS1基因突变的诊疗和基因检测分析

孙致连(), 何俊莹(), 程筱玲, 谭晓霞, 吴伟华()   

  1. 深圳市罗湖区人民医院内分泌科,深圳 518001
  • 收稿日期:2022-08-09 修回日期:2022-09-12 出版日期:2022-11-20 发布日期:2022-09-22
  • 通讯作者: 吴伟华 E-mail:sunzhilian@163.com;hejunying1210@163.com;hui-90@163.com
  • 作者简介:孙致连,硕士,副主任医师,研究方向:内分泌与代谢病方向。E-mail: sunzhilian@163.com|何俊莹,硕士,主治医师,研究方向:内分泌与代谢病方向。E-mail: hejunying1210@163.com
    孙致连和何俊莹并列第一作者

Diagnosis, treatment and genetic analysis of a case of familial aldosteronism type II with WFS1 gene mutation

Zhilian Sun(), Junying He(), Xiaoling Cheng, Xiaoxia Tan, Weihua Wu()   

  1. Department of Endocrinology, Shenzhen Luohu People’s Hospital, Shenzhen 518001, China
  • Received:2022-08-09 Revised:2022-09-12 Online:2022-11-20 Published:2022-09-22
  • Contact: Wu Weihua E-mail:sunzhilian@163.com;hejunying1210@163.com;hui-90@163.com

摘要:

原发性醛固酮增多症(primary aldosteronism, PA)又简称原醛症,是指肾上腺皮质分泌过量醛固酮(aldosterone,ALD),导致水钠潴留及肾素-血管紧张素系统受抑制,从而引起高血压、低血钾的一类疾病。家族性醛固酮增多症II型(familial hyperaldosteronism type II, FH-II)是PA的少见病因,为常染色体显性遗传病。本文收集1例自2014年起病以来反复高血压、低血钾的病例,该患者诊断结果一直未明确。2021年通过基因检测证实该患者存在CLCN2WFS1基因突变,其母亲为杂合携带,父亲为野生型。结合内分泌功能试验结果及影像学资料,考虑患者为FH-II,同时合并WFS1基因突变。通过总结分析该病例特点及基因检测结果,对于临床难以明确病因的PA建议可行基因测序。该病例也为后续遗传学研究提供临床资料。

关键词: 家族性醛固酮增多症II型, CLCN2, WFS1

Abstract:

Primary aldosteronism (PA) is a disease characterized by hypertension and hypokalemia due to the excessive aldosterone secretion from the adrenal cortex, which leads to the retention of both water and sodium, and the inhibition of the renin-angiotensin system as well. Familial hyperaldosteronism type II (FH-II) is known as an autosomal dominant hereditary disease, which is a scarce cause of PA. In this report, we cllected the clinical data of a patient with repeated hypertension and hypokalemia of uncertain diagnosis since 2014. Nevertheless, we discovered by genetic sequencing in 2021 that the CLCN2 and WFS1 gene mutation of the patient, whose mother belongs to heterozygote genotype and father belongs to wild-type genotype. Combined with a series of endocrine function tests and imaging studies, the patient was finally certified her suffering from FH-II and WFS1 gene mutation. By summarizing and analyzing the characteristics and genetic test results of this case, we recommended gene sequencing for patients with PA whose etiology is difficult to be determined clinically. This case also provides new clinical data for subsequent genetic studies of the disease.

Key words: familial hyperaldosteronism type II, CLCN2, WFS1