Abstract
Dent's disease is an inherited human kidney disease associated with low-weight proteinuria, hypercalciuria, and nephrolithiasis. The Dent's disease is caused by the dysfunctioning of a gene encoding kidney-specific chloride channel (CIC-5) that is a member of the CIC-family. The chapter discusses the CIC family of voltage-gated chloride channels and functional characterization of the CLCN5 gene product. CIC-5 is believed to be an intracellular chloride channel in ecsosomes of the proximal tubule that is necessary for the pH adjustment in these cell organelles. Its dysfunction causes defective rebsorptive protein endocytosis in the proximal tubule. This is because of either alteration in endocytosis or general dysfunction of the proximal tubule cells. This results in excretion of increased level of calcium in urine and hypercalciuria causes nephrolithiasis. The chapter describes the clinical features, genetics, pathophysiology, and therapy. Dent's disease is an X-linked recessive nephrolithiasis and is described by the following diagnostic criteria: proteinuria, hypercalciuria, proximal tubule dysfunction, decreased urinary concentration, renal failure, and osteomalacia and rickets..
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