RECENT ADVANCES IN THE UNDERSTANDING OF POLYCYSTIC KIDNEY-DISEASE

Polycystic kidney disease is characterized by localized autonomous cel lular proliferation, compartmentalized fluid accumulation within the c ysts, and intraparenchymal fibrosis of the kidney. The clinical featur es include renal failure, liver cysts, and vascular and cardiac valve abnormalities. Recent developments have extended our understanding of cyst formation, fluid secretion, and the genetics of polycystic kidney disease. Two causal genes for polycystic kidney disease, PKD1 and PKD 2, that are responsible for greater than 95% of cases of autosomal dom inant polycystic kidney disease, have been identified and sequenced. T he mechanisms of cystogenesis are being uncovered and the phenotypic f eatures of cystic epithelial cells are being discovered. This review d escribes recent advances made in the molecular biology of the genetic causes of polycystic kidney disease. The mechanistic details of cystog enesis are discussed and contrasted with the paradigms that guide curr ent experimental approaches.