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        Models of Polycystic Kidney Disease

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        Polycystic kidney disease (PKD) is a potentially life-threatening disorder that affects both adult and pediatric patients. PKD can be either inherited as a dominant (ADPKD) or a recessive trait (ARPKD) or acquired. The disease is characterized by massive renal enlargement associated with the growth of fluid-filled intrarenal cysts. ADPKD, the most common cystic disease, is caused by mutations at three distinct loci: PKD1, PKD2 , and PKD3 . The PKD1 locus was mapped to human Chr 16p13.3, and the PKD2 locus was mapped to human Chr 4q21–23. The PKD3 locus has not yet been mapped. PKD1 is the most commonly inherited mutation. Patients with ADPKD develop renal, hepatic, and pancreatic cysts, abdominal and inguinal hernias, heart-valve defects, and aortic and cerebral aneurysms (1 ). ARPKD is encountered less frequently. PKHD1 , a locus on human Chr 6p21-cen that predisposes individuals to develop ARPKD, has been reported. ARPKD patients primarily develop cysts in the collecting ducts, with hepatic fibrosis as an associated extrarenal manifestation (2 ).
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