Research progress of the pathogenesis of Gitelman-like syndrome
10.12025/j.issn.1008-6358.2023.20221681
- VernacularTitle:类Gitelman综合征发病机制的研究进展
- Author:
Hui-Ling SHI
1
;
Xin-Xia CHANG
Author Information
1. 澳门镜湖医院内分泌科,澳门 999078
- Keywords:
Gitelman-like syndrome;
Gitelman syndrome;
hypokalemic alkalosis;
hypomagnesemia
- From:
Chinese Journal of Clinical Medicine
2023;30(6):1056-1060
- CountryChina
- Language:Chinese
-
Abstract:
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.
