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.

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