Dent disease

Definition:

Dent disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. The disease is caused by mutations in either the CLCN5 or OCRL1 genes. CLCN5 encodes a member of the ClC family of chloride ion channels and ion transporters. OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2) 5-phosphatase and mutations are also associated with Lowe Syndrome.

References:

[1]. Olivier Devuyst, et al. Dent's disease. Orphanet J Rare Dis. 2010 Oct 14;5:28. [Content Brief]

[2]. Richard R Hoopes Jr, et al. Dent Disease with mutations in OCRL1. Am J Hum Genet. 2005 Feb;76(2):260-7. [Content Brief]

[3]. Richard R Hoopes Jr, et al. Evidence for genetic heterogeneity in Dent's disease. Kidney Int. 2004 May;65(5):1615-20. [Content Brief]

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