儿童遗传性肾小管碱中毒诊疗进展

儿童遗传性肾小管碱中毒为临床罕见的肾小管疾病,是肾小管上皮细胞离子通道基因变异导致蛋白质功能异常引起的临床综合征。Bartter综合征、Gitelman综合征和Liddle综合征属于其中较常见的几种类型,均是以肾小管碱中毒为临床特征的遗传性失钾性疾病。文章综述上述三者的发病机制、临床表现及诊断和治疗的最新进展。

Progress in diagnosis and treatment of hereditary renal tubular alkalosis in children

Hereditary renal tubular alkalosis in children is a rare renal tubular disease.It is a clinical syndrome caused by protein dysfunction resulted from single gene mutation of ion channel in renal tubular epithelial cells.Bartter syndrome,Gitelman's syndrome and Liddle's syndrome are among the more common types,all of which are hereditary potassium loss diseases clinically characterized by renal tubular alkalosis.In this paper,the pathogenesis,clinical manifestations and the latest progress in diagnosis and treatment were reviewed.