Congenital hepatic fibrosis

Overview
Congenital hepatic fibrosis is an inherited fibrocystic liver disease associated with proliferation of interlobular bile ducts within the portal areas and fibrosis that do not alter hepatic lobular architecture. The fibrosis would affect resistance in portal veins leading to portal hypertension. The condition usually has an autosomal recessive pattern of transmission but sporadic cases have also been reported. It may be associated with other congenital defects; commonly with autosomal recessive polycystic kidney disease, the most severe form of PKD. Some suggest that these two conditions are one disorder with different presentation. Embryogenically CHF is due to malformation of duct plate, a round structure appearing in the eighth week of gestation that is formed by primitive hepatocytes, which differentiate into cholangiocytes. It usually present in adolescent or young adulthood, but onset of sign and symptom can range from early childhood to 5th or 6th decade of life. Clinical features may vary but commonly include Cholangitis, hepatomegaly and signs of portal hypertension.