Referenced in: none

Automatically associated channels: ClC4 , ClC5

Title: Expanding the phenotype of proteinuria in Dent disease. A case series.

Authors: Monica T Cramer, Jennifer R Charlton, Agnes B Fogo, Sahar A Fathallah-Shaykh, David J Askenazi, Lisa M Guay-Woodford

Journal, date & volume: Pediatr. Nephrol., 2014 Oct , 29, 2051-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24810952

Abstract
Dent disease is an X-linked recessive renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure (MIM 300009). A recent case series identified four patients with CLCN5 mutations who presented with nephrotic-range proteinuria, histologic evidence of focal segmental and/or global sclerosis, and low molecular weight proteinuria.We characterize the clinical, genetic, and histopathological features of seven unrelated adolescent males with nephrotic-range proteinuria and CLCN5 mutations. Six patients underwent renal biopsy prior to assessing tubular proteinuria. All biopsied patients had either segmental sclerosis (3/6) or segmental increase in mesangial matrix (3/6). Five patients revealed some degree of foot process effacement, but only one patient biopsy revealed >50 % foot process effacement. The attenuated foot process effacement suggests the glomerulosclerosis is not due to a primary podocytopathy.These data suggest that clinicians should consider a diagnostic evaluation for Dent disease in young males presenting with high-grade proteinuria.