原发性醛固酮增多症相关的基因突变研究进展

Research progress on gene mutation related primary aldosteronism

原发性醛固酮增多症(简称原醛)是最常见的继发性高血压。近年来,随着全外显子测序等技术的应用,原醛发病机制的研究获得了很大的进展,驱动醛固酮合成的基因胚系和体系突变是导致原醛发病的主要机制,尤其在醛固酮腺瘤、特醛症和家族性醛固酮增多症方面的研究成果不断地更新我们的认识。

Primary aldosteronism(PA)is the most common secondary hypertension.In recent years,with the application of whole exome sequencing(WES),great progress has been made in the pathogenesis of PA.Germline and somatic mutations of aldosterone synthesis-driving genes are the main pathogenesis leading to PA,which greatly update our understanding of this dissease,especially in aldosterone-producing adenoma,idiopathic hyperaldosteronism and familial hyperaldosteronism.