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氯离子是生物体内一类重要的阴离子，参与多种生理活动的调节。由相关基因突变引起的离子通道蛋白功能缺陷可导致离子通道功能异常，形成离子通道病。在肾脏，位于不同部位的肾小管上皮细胞的基侧质膜和顶质膜上分布有多种氯离子通道。研究发现，肾脏电压门控氯离子通道与Bartter综合征和Dent病有关；囊性纤维化跨膜转运调节体所致囊性纤维化病可累及肾脏。文章综述氯离子通道在维持正常肾脏功能中的作用及其机制，以及相关基因缺陷所致的肾脏疾病。“,”Chloride ion is an important anion in organisms, managing various physiological events. A particular gene mu-tation leads to involved channel deifciency and to develop channelopathy. In kidney, different chloride channels distribute along certain fractions of the renal tubule, located at apical and basolateral membranes of tubular epithelial cells. Previous studies dis-covered that voltage-sensitive chloride channels in kidney are associated with Bartter syndrome and Dent’s disease. In addition, the kidney can be involved by cystic ifbrosis resulting from dysfunction of cystic ifbrosis transmembrane conductance regulator. In this review, the function and mechanism of chloride channels in maintenance of normal renal function, and the renal diseases caused by related gene defects were discussed.