原发性醛固酮增多症遗传学研究进展

Genetics advances in primary aldosteronism

摘要: 原发性醛固酮增多症（primary aldosteronism，PA）是一种常见的、可治愈的继发性高血压的原因之一，主要由醛固酮瘤（aldosterone-producing adenoma，APA）或特发性醛固酮增多症（idiopathic hyperaldosteronism，IHA）引起，只有小部分的PA是家族性醛固酮增多症（familial hyperaldosteronism，FH）。基因组学技术的发展，使得人们逐步阐明了与APA、IHA和FH发生有关的部分异常基因。本文主要描述了与PA有关的异常基因，以期为PA分型诊断和继发性高血压的治疗提供新的方向。

Abstract: Primary aldosteronism （PA） is the most common and curable form of secondary hypertension which is primarily caused by either aldosterone-producing adenoma （APA） or by idiopathic hyperaldosteronism （IHA）. Only a tiny part of PA patients are familial hyperaldosteronism （FH）. Recent advances in genome technology have allowed researchers to unravel part of the genetic abnormalities of APA， IHA and FH. In this review， we mainly describe the genetic abnormalities associated with PA and may offer a new direction for diagnosis of PA and treatment in secondary hypertension.