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.
Sheng Li Xue Bao. 2024 Aug 25;76(4):587-596.
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.
醛固酮瘤是原发性醛固酮增多症的一种亚型。多组学研究的最新进展在基因层面理解原发性醛固酮增多症方面取得了显著进展。在与醛固酮瘤发生相关的各种基因中，KCNJ5（内向整流钾通道，J亚家族，成员5）基因因其作为原发性醛固酮增多症中最常见的体细胞突变基因的普遍性而受到了相当多的关注。本文旨在整合关于KCNJ5基因参与醛固酮瘤发病机制的现有证据，从遗传学角度加深对醛固酮瘤潜在机制的理解，并为醛固酮瘤的临床诊断和治疗提供新的见解。
