Itcho Kiyotaka, Oki Kenji, Ohno Haruya, Yoneda Masayasu
Department of Molecular and Internal Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima 734-8551, Japan.
Biomedicines. 2021 Apr 10;9(4):409. doi: 10.3390/biomedicines9040409.
Primary aldosteronism (PA) is the most common form of secondary hypertension, with a prevalence of 5-10% among patients with hypertension. PA is mainly classified into two subtypes: aldosterone-producing adenoma (APA) and bilateral idiopathic hyperaldosteronism. Recent developments in genetic analysis have facilitated the discovery of mutations in , , , , , , and in sporadic or familial forms of PA in the last decade. These findings have greatly advanced our understanding of the mechanism of excess aldosterone synthesis, particularly in APA. Most of the causative genes encode ion channels or pumps, and their mutations lead to depolarization of the cell membrane due to impairment of ion transport. Depolarization activates voltage-gated Ca channels and intracellular calcium signaling and promotes the transcription of aldosterone synthase, resulting in overproduction of aldosterone. In this article, we review recent findings on the genetic and molecular mechanisms of PA.
原发性醛固酮增多症（PA）是继发性高血压最常见的形式，在高血压患者中的患病率为5% - 10%。PA主要分为两种亚型：醛固酮瘤（APA）和双侧特发性醛固酮增多症。在过去十年中，基因分析的最新进展促进了在散发性或家族性PA形式中发现 、 、 、 、 、 和 的突变。这些发现极大地推进了我们对醛固酮过度合成机制的理解，特别是在APA中。大多数致病基因编码离子通道或泵，它们的突变由于离子转运受损导致细胞膜去极化。去极化激活电压门控钙通道和细胞内钙信号，并促进醛固酮合酶的转录，导致醛固酮过度产生。在本文中，我们综述了关于PA的遗传和分子机制的最新发现。
