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Polycystic kidney disease

Jared J. Grantham
From: Science & Medicine: Volume 9 Number 3: Page 128 (June 2003)

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Abstract: Three genes have recently been identified that underlie polcystic kidney disease. PKD1 and PKD2 encode polycystins 1 and 2, which is defective in autosomal recessive PKD. These proteins all occur in epithelial cell membranes of renal tubules. While the functions of fibrocystin/polyductin remain unknown, the polycystin proteins appear to fuction in cell repair and in cell development and proliferation. Polycystins-1 and -2 combine to form a complex that regulates calcium influx. Errors in either one of these proteins lead to decreased intracellular calcium levels, which disingibit signaling pathways leading to cell proliferation. The unfettered division of renal tubule epithelial cells results in the development of renal cysts characteristic of PKD.

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