Abstract
Dent's disease is an X-linked proximal tubular disorder, characterised by renal Fanconi syndrome, nephrocalcinosis, nephrolithiasis and reduced glomerular filtration rate. Mutations is the clcn5 gene encoding clc-5 chloride/proton exchanger are detected in ~;60% of the patients. Normal functioning of clc-5 is necessary for the acidification of the endosomes in the proximal tubular cells of the kidney. Defective endosomal acidification disturbs the recycling of multi-ligand receptors megalin/cubulin, resulting in decreased endocytosis of low molecular weight proteins, albumin, hormones and vitamins. Patients with Dent's disease can be symptomatically treated with hydrochlorothiazide for diminishing hypercalciuria. The administration of citrate might attenuate nephrocalcinosis and slow the deterioration of renal function. Molecular analysis of the clcn-5 gene is available in the laboratory of dna diagnostics of umc St Radboud, Nijmegen.
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