| [ Summary ] |
Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral renal enlargement, hyperechogenicity of renal parenchyma, and impairment of renal functions. It is commonly accompanied by congenital hepatic fibrosis and/or saccular dilatation of the intrahepatic bile ducts (Caroli's disease). The gene for ARPKD is PKHD1 located on chromosome 6p12, which encodes a protein called fibrocystin/polyductin. While the prognosis for neonates who suffer from pulmonary hypoplasia and end stage renal failure is grave, favorable long term outcomes have been reported in patients who have survived neonatal conditions. Older children often present with esophageal varices due to portal hypertension as well as progressive renal failure and hypertension.Clinical manifestations of Caroli’s disease are recurrent bouts of cholangitis. While kidney and/or liver transplantations are potential treatment modalities for ARPKD, individual patient conditions and family background should also be considered to decide on courses of treatment. |