肝臓ジャーナル

概要

Congenital Hepatic Fibrosis Associated with Polycystic Kidney Disease

Jaimini Natvarlal Patel, Subha Gupta, Mansi Fauzdar, Nisarg Patel and Shweta Chaturvedi

Congenital hepatic fibrosis (CHF) is an autosomal recessive disorder and occurs as a result of ductal plate malformation. Clinically it is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. The exact incidence and prevalence of CHF are not known, but it is a rare disease. This disorder is diagnosed in most patients during childhood or young adulthood. We present the case of 8 year old female with hepatosplenomegaly, hematemesis, melena, bilateral polycystic kidney disease and a histopathological diagnosis of congenital hepatic fibrosis. She had a history of celiac disease. Congenital hepatic fibrosis belongs to the so-called fibropolycystic diseases. Celiac disease is an immune-mediated enteropathy. We describe its association with congenital hepatic fibrosis.