Phenotypic variability in PKD1: The family as a starting point

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disorder characterized by the development of multiple renal cysts as well as variable extrarenal manifestations, most notably involving the liver and the cardiovascular system. It is the most common inherited nephropathy, with an estimated prevalence in the Caucasian population of 1 in 1,000 [reviewed in 1]. At least three different genes are involved in ADPKD. In populations of European origin, mutations in the PKD1 gene cause ADPKD in 85% of families, whereas mutations in PKD2 cause a milder form of the disease in 15% of families2. At least one additional gene is responsible for the disease in the small subset (<1%) of families3,4,5.