A clinical and hereditary analysis of novel complex heterozygous KCNJ1 mutation in a Bartter syndrome type Ⅱ patient / 中华内科杂志

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.