Autosomal Recessive Polycystic Kidney Disease: Clinical Features
Section Editor: Dharam M. Ramnani, MD
Virginia Urology, Richmond, VA, USA
Image Description
Autosomal Recessive Polycystic Kidney Disease (ARPKD) - Clinical Features: (continued from the previous three images). ARPKD patients who survive into infancy develop problems related to hypertension (often resistant to multiple anti-hypertensives), renal failure, and liver disease. Chronic renal insufficiency during childhood leads to growth failure, anemia, and renal osteodystrophy. There is no increase in the risk of renal cell carcinoma.
ARPKD in Older Children The clinical manifestations are mostly related to liver disease (congenital hepatic fibrosis, Caroli syndrome with intrahepatic biliary dilatation) and include recurrent acute cholangitis, hepatosplenomegaly, cirrhosis, portal hypertension, and esophageal varices. The liver function is usually normal and liver enzymes are not raised. Some patients may develop liver cysts; however, cysts in other viscera are not a feature and their presence should suggest a different diagnosis.
This photo shows abdominal situs from a case of ARPKD which resulted in perinatal demise. The kidneys are massively enlarged but retain their shape. Image Credit: Bergmann C (2018) Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses. Front. Pediatr. 5:221 doi: 10.3389/fped.2017.00221; image cropped from the original and used under Creative Commons Attribution License (CC BY).
ARPKD in Older Children The clinical manifestations are mostly related to liver disease (congenital hepatic fibrosis, Caroli syndrome with intrahepatic biliary dilatation) and include recurrent acute cholangitis, hepatosplenomegaly, cirrhosis, portal hypertension, and esophageal varices. The liver function is usually normal and liver enzymes are not raised. Some patients may develop liver cysts; however, cysts in other viscera are not a feature and their presence should suggest a different diagnosis.
This photo shows abdominal situs from a case of ARPKD which resulted in perinatal demise. The kidneys are massively enlarged but retain their shape. Image Credit: Bergmann C (2018) Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses. Front. Pediatr. 5:221 doi: 10.3389/fped.2017.00221; image cropped from the original and used under Creative Commons Attribution License (CC BY).