Dent Disease Type 1: A Diagnostic Dilemma and Review.

ABSTRACT: This case report describes a boy with a rare genetic disease that primarily affects the kidneys and has implications on growth and development. Dent disease type 1 is an X-linked tubulopathy mainly caused by inactivating mutations in the chloride voltage-gated channel 5 (CLCN5) gene. It is a rare but important diagnosis for children with variable phenotypic presentations that can include low molecular weight proteinuria (LMWP), nephrocalcinosis, bony deformities and possible progression to early-onset renal failure. A delay in diagnosis is often encountered when it comes to Dent disease. This is due to the similarities in presentation of the disease to other commonly seen pediatric conditions (such as minimal change nephrotic syndrome, nutritional rickets, renal tubular acidosis [RTA], etc

SUBMITTER: Soares RB 

PROVIDER: S-EPMC9076049 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature