Contributor: Gordon K. Klintworth
Adult polycystic kidney disease (polycystic kidney disease type I) has an autosomal dominant mode of inheritance. This kidney disease is the most common potentially lethal disorder of the kidney caused by mutations in a single gene. The vast majority of cases are due to a cases (85%) result from mutations in the PKD1 gene. Adult polycystic kidney disease affects 1:400-1:1,000 individuals in the United States. Both kidneys are markedly enlarged and distorted with numerous cysts. Affected persons often have cysts also in the liver and spleen. Diverticulae of the colon [diverticulum - colon] form in most patients. Cerebral aneuryms [aneurysm - cerebral] are common (20% of cases) and a rupture of them causes cerebral hemorrhage [hemorrhage - cerebral] and often death. End-stage renal failure with hypertension and uremia develops in half the patients and eventually renal dialysis or renal transplantation becomes necessary.