Natural History of Autosomal Dominant Polycystic Kidney Disease

Abstract

At least two different genes, which have been mapped to chromosomes 4 and 16, cause autosomal dominant polycystic kidney disease, a disorder with renal and extrarenal manifestations. Although gene-linkage testing is possible, the disease is diagnosed mainly through ultrasonography. Renal disease is characterized clinically by hypertension, acute and chronic pain, and variable progression to end-stage renal disease. Extrarenal manifestations include liver cysts, which may lead to complications; ruptured intracranial aneurysms; cardiac valvular disease; colonic diverticula; and inguinal hernias. Disease management is directed at minimizing and treating the complications of this illness.