类Gitelman综合征发病机制的研究进展

Research progress of the pathogenesis of Gitelman-like syndrome

Gitelman综合征(Gitelman syndrome,GS)又称家族性低钾低镁血症,是编码肾远曲小管(distal convoluted tubule,DCT)的噻嗪类利尿剂敏感的钠-氯共转运体(sodium-chloride cotransporter,NCC)基因突变导致的低钾失盐性肾小管疾病,以低钾性碱中毒和低镁血症为特征。GS目前主要的致病基因有SLC12A3基因、KCNJ10基因、HNF1B基因等。类Gitelman综合征是指与GS的临床表现相同,但未检测出经典基因突变的一类综合征,存在与GS不完全相同的致病机制。本文从遗传因素(线粒体基因变异、SLC26A4基因突变、BSND基因突变等)和非遗传因素(利尿剂滥用、氨基糖胺类抗生素、顺铂等)总结类Gitelman综合征的发病机制,为进一步认识和诊治该疾病提供理论依据。

Gitelman syndrome(GS),also known as familial hypokalemia and hypomagnesemia,is a hypokalemic renal tubular disease caused by mutation in gene encoding the renal thiazide-sensitive sodium-chloride cotransporter(NCC),which is expressed in the distal convoluted tubule(DCT).GS is characterized by hypokalemic alkalosis and hypomagnesemia.At present,the main pathogenic genes of GS are SLC12A3 gene,KCNJ10 gene,HNF1B gene and so on.Gitelman-like syndrome has the same clinical manifestation as GS,but no classic gene mutation.It has not exactly the same pathogenic mechanism as GS.This paper summarizes the pathogenesis of Gitelman-like syndrome from genetic factors(mitochondrial gene variation,SLC26A4 gene mutation,BSND gene mutation,etc.)and non-genetic factors(diuretic abuse,aminoglycosamine antibiotics,cisplatin,etc.),in order to provide theoretical basis for further understanding,diagnosis and treatment of the disease.