Renal cystic disease in multisystem conditions.

Abstract

Five renal cystic diseases have significant extrarenal manifestations: autosomal dominant polycystic kidney disease (ADPCK), autosomal recessive polycystic kidney disease (ARDCK), tuberous sclerosis (TS), von Hippel-Lindau Syndrome (VHL), and medullary cystic disease (MCD). Knowledge of these extrarenal manifestations is important since they may precede, present simultaneously, or follow the onset of the renal cystic disease. This article discusses the most significant extrarenal manifestations of these five renal cystic diseases: (1) ADPCK: hepatic cysts and cardiovascular abnormalities; (2) ARDCK: portal hypertension; (3) TS: hamartoma-like tumors of other organs; (4) VHL: central nervous system hemangioblastomas and paragangliomas; and (5) MCD: congenital hepatic fibrosis. Detecting extrarenal manifestations may be helpful (1) in confirming the renal cystic disease; (2) in thoroughly evaluating the patient with known renal cystic disease, and (3) if they antedate the renal cystic disease, their presence will alert the radiologist to evaluate the kidneys.