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Congenital hepatic fibrosis.
M De Vos1, F Barbier, C Cuvelier
1Department of Gastroenterology, Academic Hospital, University of Ghent, Belgium.
Journal of Hepatology
|April 1, 1988
Summary
Congenital hepatic fibrosis (CHF) is a rare cause of portal hypertension in adults and children. Cholangitis is a severe complication, and renal abnormalities are frequently associated with CHF.
Area of Science:
- Hepatology
- Nephrology
- Genetics
Background:
- Congenital hepatic fibrosis (CHF) is a rare genetic disorder.
- It often presents with complications of portal hypertension or cholangitis.
Observation:
- This study details 7 male patients with CHF (age range 7-53 years).
- Presenting symptoms included variceal bleeding, hepatosplenomegaly, and cholangitis.
- Diagnosis was confirmed via liver biopsy.
- Portal-systemic shunting was performed in 6 patients.
Findings:
- Cholangitis was a severe complication, leading to fatal outcomes in 2 patients.
- Six patients had associated renal cysts, suggestive of adult-type polycystic disease.
- Renal function varied, with one patient developing renal insufficiency.
- Autosomal dominant inheritance was suggested in some families.
Implications:
- CHF is a significant cause of portal hypertension in older children and adults.
- Early diagnosis and management of cholangitis are crucial due to its high mortality.
- The frequent association with congenital renal abnormalities warrants careful monitoring.