Bartter syndrome type III with glomerular dysplasia and chronic kidney disease: A case report.

ABSTRACT:

Background

Bartter syndrome (BS) type III is a rare autosomal recessive genetic disease. Its clinical features are polyuria, hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninaemia. A few BS type III can be complicated with chronic kidney disease.

Case presentation

We report a 14-year-old boy with Bartter syndrome caused by a c.1792C > T (p.Q598*) mutation in the CLCNKB gene. He was a no deafness and full-term baby, and he had renal dysplasia and chronic kidney disease (CKD). In addition, we summarize all cases of BS type III complicated with CKD.

Conclusions

We report a case of Bartter syndrome complicated by chronic kidney disease caused by a new mutation of CLCNKB. As we all know, BS type IV is usually combined with chronic kidney disease, and B

SUBMITTER: Liu J 

PROVIDER: S-EPMC10098006 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature