Mutation analysis of SLC12A1 gene in nine Chinese patients with Bartter syndrome type Ⅰ
10.3760/cma.j.issn.1001-7097.2018.08.007
- VernacularTitle:中国9例1型巴特综合征SLC12A1基因突变分析
- Author:
Yue HAN
1
;
Xiangzhong ZHAO
;
Dongxu TIAN
;
Cui WANG
;
Sai WANG
;
Jingru LU
;
Ruixiao ZHANG
;
Leping SHAO
Author Information
1. 266003,青岛大学医学院附属医院中心实验室和肾内科
- Keywords:
Bartter syndrome;
Mutation;
Genotype;
Phenotype;
SLC12A1 gene
- From:
Chinese Journal of Nephrology
2018;34(8):601-607
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze the mutations of SLC12A1 gene in nine Chinese families with Bartter syndrome type I (BS1),and analyze the relationship between genotype and phenotype.Methods The next generation sequencing was used to detect mutations in nine BS1 patients including eight with antenatal BS (aBS) and one with classical BS (cBS).Clinical characteristics and biochemical findings at the first admission as well as follow-up were reviewed.Results 15 different mutations of SLC12A1 gene were identified,including 11 novel ones.Among nine probands,seven were compound heterozygotes,two were homozygotes.All patients presented with polydipsia and polyuria,and eight with growth retardation.All patients had lower than-normal serum chloride concentration,metabolic alkalosis,and elevated basal renin activity and aldosterone,and seven had hypokalemia.Through treatment of indomethacin and/or potassium chloride,biochemical indicators could roughly restored normal.Conclusion These findings will enrich the human gene mutation database (HGMD) and provide valuable references to the genetic counseling and diagnosis for Chinese population.
