Polycystic kidney disease, autosomal dominant: A late onset disorder characterized by the progressive development of innumerable cysts in the kidney, causing hypertension, renal pain, and renal insufficiency (kidney failure).

This is a systemic disease. There are cysts in other organs such as the liver and pancreas, intracranial aneurysms, dilatation (widening) and dissection of the aorta, mitral valve prolapse, and abdominal wall hernias. Half of patients have end-stage renal disease by age 60.

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.