A clinical and hereditary analysis of novel complex heterozygous KCNJ1 mutation in a Bartter syndrome type Ⅱ patient
10.3760/cma.j.issn.0578-1426.2017.10.010
- VernacularTitle:KCNJ1新的复合杂合突变致Bartter综合征Ⅱ型临床和遗传分析
- Author:
Xinyan LI
1
;
Yan JIANG
;
Lijun XU
;
Lian DUAN
;
Xiaoyan PENG
;
Limeng CHEN
;
Weibo XIA
;
Xiaoping XING
Author Information
1. 新疆医科大学第五附属医院内分泌科
- Keywords:
Mutation;
Bartter syndrome;
KCNJ1;
Celecoxib
- From:
Chinese Journal of Internal Medicine
2017;56(10):760-762
- CountryChina
- Language:Chinese
-
Abstract:
Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or dominant trait (Bartter type 5).The disease associates hypokalemic alkalosis with varying degrees of hypercalciuria.Here we presented a case (BS type Ⅱ) of a 17 years old female presented with polyhydramnios,polyuria,nephrocalcinosis and hypokalemia,which was alleviated after treatment with celecoxib and vitamin D3.DNA sequencing identified compound heterozygous KCNJ1 gene mutations,c.931 C ＞ T (p.R311 W) and c.445-446insCCTGAACAC (p.V149Afs,150X),with the latter a novel mutation.Her father and mother were heterozygous carriers of c.931C ＞ T (p.R311W) and c.445-446insCCTGAACAC (p.V149Afs,150X),respectively.In conclusion,this case of BS type 1 is caused by a novel compound heterozygous KCNJ1 mutation.Further studies are needed to verify the effect of celecoxib in BS patients.
