Definition: a progressive disease characterized by formation of multiple cysts of varying size scattered diffusely throughout both kidneys, resulting in compression and destruction of renal parenchyma, usually with hypertension, gross hematuria, and uremia leading to progressive renal failure. There are two major types: with onset in infancy or early childhood, usually of autosomal recessive inheritance [MIM*263200]; with onset in adulthood, of autosomal dominant inheritance with genetic heterogeneity [MIM*173900, 173910, and 600666]; may be caused by mutation in either polycystin-1 gene on chromosome 16p, polycystin-2 gene on 4q, or gene(s) not identified yet.
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