Dent Disease

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Dent Disease is a rare, X-linked inherited disease of pediatric nephrology.  It can be filed under the category of “renal tubular dysfunction” and is also known as “X-linked Recessive Nephrolithiasis.”

Clinical characteristics of Dent Disease include recurrent renal stones, nephrocalcinosis, hypercalciuria, low molecular weight proteinuria, and a gradual progression to ESRD, usually within childhood.  
The disease is caused by mutations in the gene CLCN5, a chloride channel present in proximal tubular cells which appears to be necessary for the processing of endosomes.  It is not clear why these individuals are so predisposed to nephrolithiasis and hypercalciuria.  There is no good therapy for Dent Disease, though a logical case could be made for treating with oral citrate supplementation and thiazide diuretics in an attempt to mitigate hypercalciuria and delay the nephrocalcinosis-induced renal failure as much as possible.

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