Pathophysiology of adult polycystic kidney disease.

Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disorder characterized by cyst formation or structural defects in the vascular tree, cardiac valves, gastrointestinal tract, and kidneys. The pathophysiologic basis for these manifold abnormalities is consistent with a pervasive defect in the extracellular matrix. Moreover, this theory fits well with the hypothesis that autosomal dominant disorders frequently represent structural defects. The goal of this discussion is to relate the clinical manifestations of this disorder to its genetic origins and to the proposed extracellular matrix defect.