CLCNKB基因在经典型Bartter综合征发病机制中的作用

Progress of research on the role of CLCNKB gene in classical Bartter syndrome

Bartter综合征是一种以低钾性碱中毒、高肾素-血管紧张素-醛固酮血症等为特征的遗传代谢性疾病。经典型Bartter综合征是Bartter综合征的常见类型,主要由编码位于基底膜侧的电压门控氯离子通道蛋白ClC-Kb的CLCNKB基因变异所致。该病各年龄段均可发病,主要见于儿童期,临床表现多变,从严重到非常轻微。本文综述了经典型Bartter综合征致病基因CLCNKB及其编码蛋白ClC-Kb的结构与功能,阐释了CLCNKB可能的变异机制,回顾了中国人群CLCNKB基因变异情况并对基因型-表型的相关性进行简单阐述。

Bartter syndrome is an inherited metabolic disorder characterized by hypokalemic alkalosis and high renin-angiotensin-aldosteronism which can occur at all ages but mainly in childhood.Classical Bartter syndrome is caused by loss-of-function variants in the gene encoding basolateral chloride channel ClC-Kb(CLCNKB),which is a common type of Bartter syndrome characterized with diverse clinical manifestations ranging from severe to very mild.This article reviews the function and mechanism of CLCNKB variants in Chinese population and the genotype-phenotype correlation of CLCNKB variants in classical Bartter syndrome.