Abstract
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.
Highlights
Congenital hepatic fibrosis (CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts
Renal involvement is maximal in perinatal group and minimal in juvenile group [8]
Our patient had presented with hematemesis and melena, with no clinical or histological evidence of cholangitis and belongs to juvenile groups of this classification
Summary
Congenital hepatic fibrosis (CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. Arrest of maturation and the lack of remodeling of the ductal plate that occurs as a result leads to the persistence of an excess number of immature embryonic duct structures This abnormality has been termed the ductal plate malformation. The persistence of these immature duct elements stimulates the formation of portal fibrous tissue, and it is this periportal fibrosis that contributes to the clinical picture of recurrent cholangitis or portal hypertension and associated symptoms. Enlarged portal tracts containing immature ductal plates surrounding several hypoplastic or even obliterated portal vein branches are observed [6] It is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease [4]. The late appearance of symptoms and their clinical evolution suggest that CHF is a dynamic and progressive condition We present it association with celiac disease.
Sign-in/Register to view highlights & summary 
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call