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Congenital hepatic fibrosis: a disease with diverse manifestations
Insights
Congenital hepatic fibrosis (CHF) can manifest with portal hypertension at any age in pediatric patients, not just in late childhood. This study highlights diverse CHF presentations, including hepatosplenomegaly, ascites, and esophageal varices.
Area of Science:
- Pediatric Hepatology
- Gastroenterology
- Medical Genetics
Background:
- Congenital hepatic fibrosis (CHF) is a rare inherited liver disease.
- Portal hypertension is a known complication, often reported in later childhood.
Observation:
- Four pediatric patients with confirmed CHF were studied.
- Manifestations varied, including hepatosplenomegaly, esophageal varices, and ascites.
- One patient had co-existing adult polycystic kidney disease without portal hypertension.
Findings:
- Portal hypertension associated with CHF can occur at any age, including infancy and early childhood.
- The presentation of CHF is diverse, challenging typical age-related expectations.
Implications:
- Early recognition of CHF is crucial, regardless of age, to manage potential complications like portal hypertension.
- This broadens the understanding of CHF's clinical spectrum in pediatric populations.
Abstract:
We present four pediatric patients with histologically proven congenital hepatic fibrosis. The patients had diverse manifestations. The first two patients were seven-year old identical twins who presented with hepatosplenomegaly and were found to have portal hypertension with esophageal varices. The third patient was a newborn who had intractable ascites, secondary to portal hypertension. The fourth patient was a seven-year old with adult type polycystic disease of the kidney but no evidence of portal hypertension. Contrary to what has been reported in the literature of the appearance of portal hypertension in the late childhood period, congenital hepatic fibrosis may present in any age group with portal hypertension.