The genetics and physiology of polycystic kidney disease

JP Calvet, JJ Grantham - Seminars in nephrology, 2001 - seminarsinnephrology.org
Autosomal dominant polycystic kidney disease (ADPKD) is a major, inherited disorder that is
characterized by the growth of large, fluid-filled cysts from the tubules and collecting ducts of
affected kidneys, and by a number of extrarenal manifestations including liver and
pancreatic cysts, hypertension, heart valve defects, and cerebral and aortiC aneurysms.
Mutations in either of 2 different genes (PKD1 or PKD2) give rise to ADPKD. Most mutations
identified In affected families appear to inactivate the PKD genes, and accumulating …