Diseases associated with renal cysts and their extrarenal manifestations
• Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder resulting in enlarged kidneys with multiple cysts of variable size and echogenicity. Cysts are also seen in multiple additional organs including the liver and pancreas. In addition, there is also an association with cerebral berry aneurysms, but not an increased risk of renal cell carcinoma (RCC) if not on dialysis.
• Acquired cystic kidney disease (ACKD) manifests as 3 to 5 small cysts per kidney in patients on dialysis. The kidneys are otherwise small and echogenic, and there is an increased risk of RCC. There are no specific extrarenal associations.
• Von Hippel-Lindau (VHL) syndrome is an autosomal dominant genetic condition associated with multiple renal cysts up to 3 cm in size and an increased risk of multifocal RCC. Extrarenal manifestations include central nervous system (CNS) hemangioblastomas, pheochromocytomas, retinal angiomatosis, and pancreatic cysts and neoplasms.
• Tuberous sclerosis (TS) is an autosomal dominant genetic condition also associated with multiple variably sized renal cysts up to 3 cm, as well as renal angiomyolipomas (AMLs), and an increased risk of RCC. Extrarenal manifestations include mental retardation, seizures, adenoma sebaceum, central nervous system (CNS) tumors, cardiac rhabdomyomas, and pulmonary lymphangiomyomatosis.