It may be associated with other congenital defects, commonly with autosomal recessive polycystic kidney disease, the most severe form of PKD.

[1] Embryogenically, congenital hepatic fibrosis is due to malformation of the duct plate, a round structure appearing in the eighth week of gestation that is formed by primitive hepatocytes, which differentiate into cholangiocytes.

[2] Congenital hepatic fibrosis usually presents in adolescent or young adulthood, but onset of signs and symptoms can range from early childhood through mid-life.

Clinical features may vary but commonly include cholangitis, hepatomegaly and signs of portal hypertension.

In biopsy there is diffuse periportal and perilobular fibrosis in broad bands, containing distorted duct like structure or microcyst formation.