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World J Gastroenterol. Feb 14, 2010; 16(6): 683-690
Published online Feb 14, 2010. doi: 10.3748/wjg.v16.i6.683
Experience of a single center with congenital hepatic fibrosis: A review of the literature
Ali Shorbagi, Yusuf Bayraktar
Ali Shorbagi, Yusuf Bayraktar, Faculty of Medicine, Department of Internal Medicine, Gastroenterology Clinic, Hacettepe University, 06100 Sihhiye, Ankara, Turkey
Author contributions: Shorbagi A was responsible for the literature review and preparation of the manuscript; Bayraktar Y provided patient details and photographs which were used in describing the experience of a single center, as well as finalizing the final draft for submission.
Correspondence to: Ali Shorbagi, MD, Faculty of Medicine, Department of Internal Medicine, Gastroenterology Clinic, Hacettepe University, 06100 Sihhiye, Ankara, Turkey.
Telephone: +90-312-3051712 Fax: +90-312-4429429
Received: October 29, 2009
Revised: December 21, 2009
Accepted: December 28, 2009
Published online: February 14, 2010

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. It is one of the fibropolycystic diseases, which also include Caroli disease, autosomal dominant polycystic kidney disease, and autosomal recessive polycystic kidney disease. Clinically it is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. CHF is known to occur in association with a range of both inherited and non-inherited disorders, with multiorgan involvement, as a result of ductal plate malformation. Because of the similarities in the clinical picture, it is necessary to differentiate CHF from idiopathic portal hypertension and early liver cirrhosis, for which a liver biopsy is essential. Radiological tests are important for recognizing involvement of other organ systems. With regards to our experience at Hacettepe University, a total of 26 patients have been diagnosed and followed-up between 1974 and 2009 with a diagnosis of CHF. Presentation with Caroli syndrome was the most common diagnosis, with all such patients presenting with symptoms of recurrent cholangitis and symptoms related to portal hypertension. Although portal fibrosis is known to contribute to the ensuing portal hypertension, it is our belief that portal vein cavernous transformation also plays an important role in its pathogenesis. In all patients with CHF portal vein morphology should be evaluated by all means since portal vein involvement results in more severe and complicated portal hypertension. Other associations include the Joubert and Bardet-Biedl syndromes.

Keywords: Congenital hepatic fibrosis, Fibropolycystic disorders, Portal hypertension, Bardet Biedl syndrome