Extrarenal manifestations of autosomal dominant polycystic kidney disease

Abstract

Although asymptomatic in most patients, extrarenal manifestations of ADPKD may become more clinically relevant with the increasing life expectancy of affected patients. They mainly encompass cysts in other organs than the kidney (liver: 94%, seminal vesicle: 40%, pancreas: 9%, arachnoid membrane: 8%, and spinal meningeal, 2%) and connective tissue abnormalities (mitral valve prolapse: 25%, intracranial aneurysms: 8%, and abdominal hernia: 10%). Their recognition may spare the patient from other, useless investigations (eg, when an arachnoid cyst is incidentally found) or lead to the implementation of prophylactic or therapeutic measures (eg, screening, sometimes followed by the treatment of an asymptomatic intracranial aneurysm in at-risk patients, or, in the presence of a severe polycystic liver disease, avoidance from estrogens and treatment aimed to slow cyst growth).