摘要
原发性醛固酮增多症(PA)是继发性高血压最常见的病因, 也增加了患者额外的心血管事件风险。近年来的研究揭示了PA相关的基因突变, 这些突变主要发生在调控醛固酮分泌的离子通道与ATP酶的基因上, 也包括了编码脚手架蛋白基因与蛋白激酶基因等。不同突变的PA引起的临床表现不尽相同。针对这些突变筛选特异性药物, 具有治疗不同病因PA的潜力。本文就这些研究进行综述, 以加深PA基因型与临床表型之间关联的认识, 为PA精准治疗提供新的思路。
Primary aldosteronism(PA)is the most common cause of secondary hypertension which increases the risk of additional cardiovascular events in patients.Recently,series of studies have revealed different genotypes of PA.These mutations mainly occur in the genes encoding the ion channels and ATPase regulating aldosterone secretion,but also genes encoding scaffold protein and protein kinase.These genotypes lead to different clinical phenotypes.Screening for specific drugs targeting those mutated molecules has the potential to treat PA.We here review the advancement of these studies for better understanding the relationship between genotypes and phenotypes and for finding precise cure method for PA.
作者
谢梦晨
郭洋洋
黄金慧
王昕
Xie Mengchen;Guo Yangyang;Huang Jinhui;Wang Xin(Nanjing University of Traditional Chinese Medicine,Nanjing 210001;Department of Endocrinology,Jiangsu Provincial Hospital of Traditional Chinese Medicine,Nanjing 210001)
出处
《国际内分泌代谢杂志》
2023年第3期216-220,共5页
International Journal of Endocrinology and Metabolism
基金
江苏省研究生科研与实践创新计划项目(SJCX22_0744)。
