Polycystic kidney disease, autosomal dominant: The most common form of polycystic kidney disease characterized by the progressive development of innumerable cysts in the kidneys, causing hypertension, renal pain, and renal insufficiency (kidney failure). Other features of the disease can be cysts in other organs, such as the liver and 'pancreas, intracranial aneurysms, dilatation (widening) and dissection of the aorta, and abnormalities in the heart valves. The disease is due to mutations in the PKD1 gene on chromosome 16 or, less often, in the PKD2 gene on chromosome 4. Also known as adult polycystic kidney disease.
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Reviewed on 12/11/2018