Autosomal Dominant Polycystic Kidney: Extrarenal Manifestations

Extrarenal Manifestations in Autosomal Dominant Polycystic Kidney Disease (ADPKD): ADPKD is a systemic disease. More than 50% of patients have extrarenal manifestations, the most common being hepatic cysts derived from biliary epithelium. The prevalence and size of hepatic cysts increases with age. They are more common in females. They are usually asymptomatic but may produce symptoms due to mass effect, hemorrhage into cysts or infection. In rare cases, hepatic cysts can cause portal hypertension and esophageal varices. Besides liver, cysts may also develop in pancreas, spleen, pineal gland, arachnoid membrane, seminal vesicles, and lungs. Other extrarenal manifestations include coronary artery and intracranial berry aneurysms (10-30% of patients), cardiac valve abnormalities (mitral valve prolapse), colonic diverticula, and skeletal deformities. This autopsy specimen photo from a patient with ADPKD shows kidney on the right with numerous cysts and liver on the left with scattered cysts.