title: Congenital hepatic fibrosis.
abstract: We report the clinical features of 7 men (mean age 22 years, range 7-53 years) with congenital hepatic fibrosis (CHF). Five patients presented with variceal bleeding and/or hepatosplenomegaly due to portal hypertension. Cholangitis was the presenting symptom in the other 2 cases. Diagnosis was established by histological examination of a surgical wedge biopsy (4 patients) or needle biopsy (3 patients). A portal-systemic shunting was performed in 6 patients, three times prophylactically. None of the 5 survivors developed chronic hepatic encephalopathy. Recurrent bouts of cholangitis with septicemia and hepatic abscesses were a major complication in 5 patients with a fatal outcome in 2 cases. Six patients had associated small and large cysts in the cortex of both kidneys, compatible with adult-type polycystic disease. One patient developed terminal renal insufficiency. In 3 patients kidney function remained normal at a mean follow-up time of 7.5 years (range 1-18 years). In 2 families (4 cases) an autosomal dominant inheritance of renal disease was suggested. This study demonstrates that CHF is a rare cause of portal hypertension in late childhood and in adults. Cholangitis is a severe and frequently fatal complication. Association with a variety of congenital renal abnormalities is very frequent. However, the association with adult-type polycystic disease as reported in 4 cases is very rare.
authors.affiliation: Department of Gastroenterology, Academic Hospital, University of Ghent, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: De Vos
authors.forename: F
authors.initials: F
authors.lastname: Barbier
authors.forename: C
authors.initials: C
authors.lastname: Cuvelier
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D002761:Cholangitis / Q000209:etiology; D005808:Genes, Recessive; D006801:Humans; D006975:Hypertension, Portal / Q000209:etiology; D008099:Liver / Q000473:pathology; D008100:Liver Abscess / Q000209:etiology; D008103:Liver Cirrhosis / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000150:complications / Q000235:genetics; D018805:Sepsis / Q000209:etiology