Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.

ABSTRACT:

Background

Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD). It is caused by mutations in the chloride voltage-gated channel 5 (CLCN5) gene (Dent disease-1), or in the OCRL gene (Dent disease-2). It is associated with chronic metabolic acidosis; however metabolic alkalosis has rarely been reported.

Case presentation

We present a family with Dent-2 disease and a Bartter-like phenotype. The main clinical problems observed in the proband included a) primary phosphaturia leading to osteomalacia and stunted growth; b) elevated serum calcitriol levels, leading to hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis; c) severe salt wasting causing hypotensio

SUBMITTER: Drosataki E 

PROVIDER: S-EPMC9097321 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature