Referenced in: none

Automatically associated channels: ClC4 , ClC5

Title: Dent's disease: identification of a novel mutation in the renal chloride channel CLCN5.

Authors: S Brakemeier, H Si, M Gollasch, D Höffler, M Buhl, R Köhler, J Hoyer, I Eichler

Journal, date & volume: Clin. Nephrol., 2004 Nov , 62, 387-90

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/15571186

Abstract
Dent's disease is an inherited tubulopathy caused by a mutation in the CLCN5 chloride channel gene. It is characterized by low-molecular weight proteinuria, hypercalciuria, nephrolithiasis or nephrocalcinosis, rickets and eventual-progressive renal failure. Onset of clinical symptoms show a great variability, making a diagnosis at an early stage of the disease often difficult. Given the variably clinical picture, genetic analysis can provide a reliable method to confirm the diagnosis. Here, we report on the case of a patient with progressive renal failure showing signs of a tubular lesion and symptoms of Dent's disease. Although this rare disease was suspected by means of the clinical features, it was genetic analysis that confirmed the diagnosis and revealed a novel mutation in the CLCN5 gene.