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

Abstract

BackgroundBartter 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 presentationWe 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.ConclusionsWe 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 BS type III can also integrate with CKD. We don't find BS type III with glomerular dysplasia in the literature. So renal damage in BS type III is not only FSGS; clinicians must also be aware of glomerular dysplasia.

Adult-Onset Bartter Syndrome: A Case Report

“…Bartter syndrome (BS) is a rare disease of the renal tubules which consequently results in decreased reabsorption of salt (1). There are two different types of classification for the disease which are either phenotypic or genotypic.…”