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醛固酮腺瘤中KCNJ5基因的研究进展

贾冠军^1,2, 吕红英^1,2, 侯明双^1,2, 陈茜茜^1,2, 徐静^1,2, 黎永祥^1,2, 李梦瑶^1,2, 寇雨顺^1,2, 马睿玲^1,2, 滕政杰³, 伊琳^1,2,*

¹甘肃中医药大学中西医结合学院内科教研室，兰州 73000；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

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。

关键词： 醛固酮腺瘤; 原发性醛固酮增多症; KCNJ5; 基因突变

Research progress of KCNJ5 gene in aldosterone-producing adenoma

JIA Guan-Jun^1,2, LYU Hong-Ying^1,2, HOU Ming-Shuang^1,2, CHEN Qian-Qian^1,2, XU Jing^1,2, LI Yong-Xiang^1,2, LI Meng-Yao^1,2, KOU Yu-Shun^1,2, MA Rui-Ling^1,2, TENG Zheng-Jie³, YI Lin^1,2,*

¹Department of Internal Medicine, School of Traditional Chinese and Western Medicine, Gansu University of Chinese Medicine, Lanzhou 730000, China；²Gansu Provincial Key Laboratory of Traditional Chinese Medicine for Prevention and Treatment of Chronic Diseases, Lanzhou 730000, China；³Medicine of Affiliated Hospital of Gansu University of Chinese Medicine, Lanzhou 730000, China

Abstract

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.

Key words: aldosterone-producing adenoma; primary aldosteronism; KCNJ5; gene mutation

收稿日期：　　录用日期：

通讯作者：伊琳　　E-mail:

DOI: 10.13294/j.aps.2024.0052

引用本文：

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. 醛固酮腺瘤中KCNJ5基因的研究进展[J]. 生理学报 2024; 76 (4): 587-596.

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. Research progress of KCNJ5 gene in aldosterone-producing adenoma. Acta Physiol Sin 2024; 76 (4): 587-596 (in Chinese with English abstract).