ARPKD and congenital hepatic fibrosis

Also see ARPKD

The patient in the vignette has a history of significant hematemesis and is anicteric, but she has a firm liver and an enlarged spleen. These findings are suggestive of cirrhosis, portal hypertension, and vomiting from esophageal varices. Renal cysts were identified at 1 year of age.

A unifying diagnosis that can account for all these findings is autosomal recessive polycystic kidney disease (ARPKD) with congenital hepatic fibrosis.

• some patients who have ARPKD die in infancy from their renal disease
• most survive with mild renal insufficiency or hypertension.
• A subset of children has congenital hepatic fibrosis:
  • malformed intrahepatic bile ducts
  • broad bands of fibrous tissue within the liver
  • secondary portal hypertension.
  • present with signs of portal hypertension before the age of 10 year
    • variceal bleeding
    • splenomegaly
    • thrombocytopenia
    • portal vein abnormalities).
  • Physical examination: enlarged, firm liver; enlarged spleen.
  • hepatic secretory function is preserved, so jaundice is often absent.
• Another group of children affected by ARPKD presents with dilated extrahepatic and intrahepatic bile ducts, biliary cysts, and symptoms of obstructive jaundice or cholangitis.

Other Liver Diseases

Alpha-1-antitrypsin deficiency

• 10% of infants who have develop neonatal cholestasis.
• Although most of the affected infants become asymptomatic within the first year of life, a small percentage develops cirrhosis and portal hypertension that requires liver transplant.

Autoimmune hepatitis

• two subtypes.
• Type 1 is characterized by the presence of anti-smooth muscle antibodies and primarily affects female adolescents and young adults.
• Type 2 is characterized by anti-liver-kidney microsomal antibodies and principally affects young children.
• Autoimmune hepatitis typically presents with fatigue, jaundice, and coagulopathy.

Biliary atresia

• presents in the first 2 months after birth with cholestasis or cholangitis.
• Treatment involves portoenterostomy (Kasai procedure), ideally performed before 2 months of age, which results in resolution of the jaundice in 30% to 50% of patients.
• In most infants who have biliary atresia, the liver disease progresses, necessitating liver transplantation.

Cavernous transformation of the portal vein

• caused by portal venous thrombosis, resulting in the generation of venous collaterals.
• Although many cases are unexplained, there may be associations with hypercoagulable states or umbilical venous catheterization.
  
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  Rudolphís Pediatrics. 21st ed. New York, NY: McGraw-Hill;
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  Tsigos C, Chrousos GP. Differential diagnosis and management of
  Cushing syndrome. Annu Rev Med. 1996;47:443-461.
  Abstract available online