Autosomal dominant polycystic kidney disease (ADPKD), a condition characterized by massively enlarged kidneys containing fluid-filled cysts, profoundly affects those who inherit one of the known genes that cause the disease. Mutations in the polycystic kidney disease 1 gene (PKD1), located on chromosome 16, account for approximately 85 percent of cases; the remaining 15 percent are due to mutations in the polycystic kidney disease 2 gene (PKD2), located on chromosome 4.1 Progressive kidney dysfunction, hypertension, abdominal and flank pain, gross hematuria, and nephrolithiasis are frequently observed in this condition. Extrarenal manifestations that include intracranial aneurysms, hepatic cysts, . . .
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Ronald D. Perrone (2006) studied this question.
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