醛固酮腺瘤中KCNJ5基因的研究进展  

Research progress of KCNJ5 gene in aldosterone-producing adenoma

作　　者：贾冠军 吕红英 侯明双 陈茜茜 徐静 黎永祥 李梦瑶 寇雨顺 马睿玲 滕政杰 伊琳 JIA Guan-Jun;LYU Hong-Ying;HOU Ming-Shuang;CHEN Qian-Qian;XU Jing;LI Yong-Xiang;LI Meng-Yao;KOU Yu-Shun;MA Rui-Ling;TENG Zheng-Jie;YI Lin(Department of Internal Medicine,School of Traditional Chinese and Western Medicine,Gansu University of Chinese Medicine,Lanzhou 730000,China;Gansu Provincial Key Laboratory of Traditional Chinese Medicine for Prevention and Treatment of Chronic Diseases,Lanzhou 730000,China;Cardiovascular Medicine of Affiliated Hospital of Gansu University of Chinese Medicine,Lanzhou 730000,China)

机构地区：[1]甘肃中医药大学中西医结合学院内科教研室,兰州730000 [2]甘肃省中医药防治慢性疾病重点实验室,兰州730000 [3]甘肃中医药大学附属医院心血管内科,兰州730000

出　　处：《生理学报》2024年第4期587-596,共10页Acta Physiologica Sinica

基　　金：supported by the National Natural Science Foundation of China(No.82160842);Project of Science and Technology Bureau of Chengguan District,Lanzhou City(No.2021SHFZ0017);Ministry of Education Key Laboratory Open Project(No.DHYX23-07);Gansu Province Chinese Medicine Research Program in 2023(No.GZKP-2022-40);Joint Research Fund General Program(No.23JRRA1521);Double First-Class Scientific Research Key Project Topics in 2023(No.GSSYLXM-05).

摘　　要：醛固酮腺瘤是原发性醛固酮增多症的一种亚型,随着多组学研究的深入,在基因水平上对原发性醛固酮增多症的研究取得了新的突破,与醛固酮腺瘤发病相关的KCNJ5(potassium inwardly rectifying channel,subfamily J,member 5)基因作为原发性醛固酮增多症最常见的体细胞突变基因,受到广泛关注。本文旨在对醛固酮腺瘤发病过程中KCNJ5基因的相关研究进行证据整合,从遗传学角度加深对醛固酮腺瘤发病机制的认识,为临床诊断及治疗醛固酮腺瘤提供新思路。Aldosterone-producing adenoma is a subtype of primary aldosteronism.Recent advancements in multi-omics research have led to significant progress in understanding primary aldosteronism at the genetic level.Among the various genes associated with the development of aldosterone-producing adenomas,the KCNJ5(potassium inwardly rectifying channel,subfamily J,member 5)gene has received considerable attention due to its prevalence as the most common somatic mutation gene in primary aldosteronism.This paper aims to integrate the existing evidence on the involvement of KCNJ5 gene in the pathogenesis of aldosterone-producing adenomas,to enhance the understanding of the underlying mechanisms of aldosterone-producing adenomas from the perspective of genetics,and to provide novel insights for the clinical diagnosis and treatment of aldosterone-producing adenomas.

关 键 词：醛固酮腺瘤 原发性醛固酮增多症 KCNJ5 基因突变 

分 类 号：R586.24[医药卫生—内分泌]