Zhou Jiaran, Wang Chunli, Bao Huaying
Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 May 10;37(5):573-577. doi: 10.3760/cma.j.issn.1003-9406.2020.05.020.
Bartter syndrome is an inherited metabolic disorder characterized by hypokalemic alkalosis and high rennin-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.
巴特综合征是一种遗传性代谢紊乱疾病，其特征为低钾性碱中毒和高肾素-血管紧张素-醛固酮血症，可发生于各年龄段，但主要在儿童期。经典型巴特综合征由编码基底外侧氯通道ClC-Kb（CLCNKB）的基因功能缺失变异所致，这是巴特综合征的常见类型，临床表现多样，从严重到非常轻微不等。本文综述了中国人群中CLCNKB变异的功能和机制，以及经典型巴特综合征中CLCNKB变异的基因型-表型相关性。
