The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report.

ABSTRACT:

Background

Dent disease-1 is a rare X-linked recessive renal tubular disorder caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. It is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. This is the first report of a CLCN5 pathogenic variant in a Dent disease-1 family of Sri Lankan origin, and it highlights the value of genetic evaluation in children with refractory proteinuria.

Case presentation

A 2-year-old boy with non-nephrotic range proteinuria was referred for evaluation. His maternally related 24-year-old uncle had been investigated for similar features at the age of 14 years and his renal histology had shown few sclerosed glomeruli. He remained asymptomati

SUBMITTER: Ranawaka R 

PROVIDER: S-EPMC5663100 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature