Polycystic Kidney Disease, Autosomal Recessive Synonyms: ARPKD; Polycystic Kidney Disease, Infantile; ARPKD/CHF
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Summary
Disease characteristics. Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes and is a cause of significant renal and liver-related morbidity and mortality in children. The majority of individuals with ARPKD classically present in the neonatal period with enlarged echogenic kidneys. Renal disease is characterized by nephromegaly, hypertension, and varying degrees of renal dysfunction. More than 50% of children with ARPKD who have a classic presentation progress to end-stage renal disease (ESRD) within the first decade of life; ESRD may require kidney transplantation.
Pulmonary hypoplasia resulting from oligohydramnios occurs in a number of affected infants. Approximately 30% of these infants die in the neonatal period or within the first year of life from respiratory insufficiency or superimposed pulmonary infections. With neonatal respiratory support and renal replacement therapies, the long-term survival of these infants has improved to greater than 80%.
Hepatobiliary disease is characterized by hepatomegaly, splenomegaly, a risk of ascending cholangitis and progressive portal hypertension. At initial presentation, approximately 40%-60% of infants have biliary abnormalities leading to hepatomegaly due to dilated intrahepatic (and occasionally extrahepatic) biliary ducts. Up to 70% of affected individuals, including long-term survivors with classic presentations and those who present with predominantly hepatobiliary disease, develop portal hypertension due to progressive periportal fibrosis; bleeding from esophageal varices contributes significantly to the morbidity and mortality of the disease. A subset of affected individuals will develop recurrent or persistent bacterial ascending cholangitis due to dilated bile ducts and stagnant bile flow. An increasing number of affected individuals surviving the neonatal period will eventually require portosystemic shunting or liver transplantation for complications of portal hypertension or cholangitis.
The classic neonatal presentation of ARPKD notwithstanding, there is significant variability in age and presenting clinical symptoms related to the relative degree of renal and biliary abnormalities.
