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原发性醛固酮增多症的遗传学

Genetics of primary hyperaldosteronism.

作者信息

Dutta Ravi Kumar, Söderkvist Peter, Gimm Oliver

机构信息

Department of Clinical and Experimental MedicineMedical Faculty, Linköping University, Linköping, Sweden.

Department of SurgeryCounty Council of Östergötland, Department of Clinical and Experimental Medicine, Medical Faculty, Linköping University, Linköping, Sweden

出版信息

Endocr Relat Cancer. 2016 Oct;23(10):R437-54. doi: 10.1530/ERC-16-0055. Epub 2016 Aug 2.

Abstract

Hypertension is a common medical condition and affects approximately 20% of the population in developed countries. Primary aldosteronism is the most common form of secondary hypertension and affects 8-13% of patients with hypertension. The two most common causes of primary aldosteronism are aldosterone-producing adenoma and bilateral adrenal hyperplasia. Familial hyperaldosteronism types I, II and III are the known genetic syndromes, in which both adrenal glands produce excessive amounts of aldosterone. However, only a minority of patients with primary aldosteronism have one of these syndromes. Several novel susceptibility genes have been found to be mutated in aldosterone-producing adenomas: KCNJ5, ATP1A1, ATP2B3, CTNNB1, CACNA1D, CACNA1H and ARMC5 This review describes the genes currently known to be responsible for primary aldosteronism, discusses the origin of aldosterone-producing adenomas and considers the future clinical implications based on these novel insights.

摘要

高血压是一种常见的病症,在发达国家约影响20%的人口。原发性醛固酮增多症是继发性高血压最常见的形式,影响8% - 13%的高血压患者。原发性醛固酮增多症的两个最常见病因是醛固酮瘤和双侧肾上腺增生。I型、II型和III型家族性醛固酮增多症是已知的遗传综合征,其中双侧肾上腺都会产生过量醛固酮。然而,只有少数原发性醛固酮增多症患者患有这些综合征之一。已发现几种新的易感基因在醛固酮瘤中发生突变:KCNJ5、ATP1A1、ATP2B3、CTNNB1、CACNA1D、CACNA1H和ARMC5。本综述描述了目前已知的导致原发性醛固酮增多症的基因,讨论了醛固酮瘤的起源,并基于这些新见解考虑了未来的临床意义。

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