Advance in genetic research on Gitelman syndrome
10.3760/cma.j.issn.1003-9406.2020.02.026
- VernacularTitle:Gitelman综合征遗传学病因的研究进展
- Author:
Yuanmei KONG
1
;
Li LIANG
;
Chunlin WANG
Author Information
1. 浙江大学医学院附属第一医院儿科
- Keywords:
Gitelman syndrome;
SLC12A3 gene;
CLCNKB gene;
Genotype-phenotype correlation
- From:
Chinese Journal of Medical Genetics
2020;37(2):205-208
- CountryChina
- Language:Chinese
-
Abstract:
With an estimated incidence of 1/40 000 to 1/4000,Gitelman syndrome is the most common type of inherited renal tubular disease during adolescence or adulthood.Characteristic features of Gitelman syndrome include transient episodes of muscle cramps and fatigue,hypokalemia,hypomagnesemia,hypocalciuria,and metabolic alkalosis.Detection of SLC12A3 mutations,in conjunct with clinical manifestations,may confirm the diagnosis.Recent research suggested that CLCNKB may also be a candidate gene for Gitelman syndrome.Research on genotype-phenotype correlation has provided more information on the genetic etiology of Gitelman syndrome,which may facilitate the diagnosis and treatment for this syndrome and improve their prognosis.
