Clinical characteristics and gene analysis in three children with Gitelman syndrome
10.3969/j.issn.1000-3606.2017.12.003
- VernacularTitle:儿童Gitelman综合征3例临床特点及基因分析
- Author:
Aijing XU
1
;
Ling SU
;
Xiuzhen LI
;
Jing CHENG
;
Ruidan ZHENG
Author Information
1. 广州妇女儿童医疗中心遗传与内分泌科 广东广州 510623
- Keywords:
Gitelman syndrome;
SLCl2A3 gene;
clinical manifestations;
gene mutation
- From:
Journal of Clinical Pediatrics
2017;35(12):889-893
- CountryChina
- Language:Chinese
-
Abstract:
Objectives To explore the clinical and gene mutation characteristics of Gitelman syndrome in children. Method The clinical data of 3 children with Gitelman syndrome were retrospectively analyzed. Results All three cases were male and their age were 3, 8 and 10 years . The clinical manifestations were hypokalemia, hypomagnesemia, alkalosis, hyperreninemia,and hyperaldosteronemia.Gene detection revealed a complex heterozygous mutation in the SLC12A3 gene.A total of 5 mutation sites were found in the SLC12A3 gene,c.179C>T(Thr60Met),c.248 G>A(Arg83Gln),c.2129 C>A(Ser710X), c.2660+1G>A, c.1456G>A (Asp486Asn). After the diagnosis was confirmed, they were treated with potassium supplement, magnesium supplement, and spironolactone and the conditions were improved in all cases. Conclusions In children with hypokalemia, be aware of Gitelman syndrome, and gene detection is helpful for the diagnosis.
