Related Experiment Videos
Congenital hepatic fibrosis in Saudi Arabia
A M Abdullah1, H Nazer, M Atiyeh
1Department of Paediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Insights
Congenital hepatic fibrosis (CHF) in children presents with varied symptoms like enlarged liver and spleen, often with normal liver function. Early diagnosis in pediatric patients is crucial, especially with kidney abnormalities or signs of portal hypertension.
Area of Science:
- Pediatrics
- Hepatology
- Nephrology
Background:
- Congenital hepatic fibrosis (CHF) is a significant cause of portal hypertension in children.
- It can lead to serious complications like gastro-intestinal hemorrhage and cholangitis.
- CHF may present without significant impairment of hepatic or renal function.
Purpose of the Study:
- To describe the diverse clinical presentations of CHF.
- To highlight diagnostic clues for pediatricians.
- To emphasize the importance of considering CHF in Saudi Arabian children with specific clinical findings.
Main Methods:
- Retrospective case series analysis of 14 children diagnosed with CHF between 1981 and 1988.
- Clinical data collection including age at presentation, symptoms, laboratory tests, and imaging.
- Endoscopic and radiological investigations for portal hypertension assessment.
Main Results:
- Presentations varied, with common signs including splenomegaly (12/14), hepatomegaly (11/14), and failure to thrive (10/14).
- Liver function tests were largely normal, except for elevated alkaline phosphatase.
- Eight patients had polycystic kidneys; all eight examined had esophageal varices.
Conclusions:
- CHF should be suspected in children with hepatomegaly and normal liver function, particularly if renal abnormalities or portal hypertension signs are present.
- Consanguinity in Saudi Arabia may increase CHF prevalence.
- Timely diagnosis and management are vital for improving outcomes in pediatric CHF patients.
Abstract:
Congenital hepatic fibrosis (CHF) is a recognized cause of portal hypertension with oesophageal varices, gastro-intestinal haemorrhage and cholangitis in children without significant impairment of hepatic or renal function. This report describes the varied clinical presentation of CHF as seen at King Faisal Specialist Hospital and Research Centre (KFSH & RC) and emphasizes the clinical patterns that should enable a pediatrician to consider the diagnosis. Fourteen children with CHF were diagnosed between 1981 and 1988. The age at presentation ranged from 1.8-14 years (mean: 7.5 years); clinical manifestations at diagnosis were splenomegaly (12), hepatomegaly (11), failure to thrive (10), marked abdominal distention (4), and fever (4). Liver function tests were normal except for high alkaline phosphatase. Eight patients had polycystic kidneys confirmed on ultrasound examination. Upper gastro-intestinal endoscopy showed oesophageal varices of variable severity in all eight patients examined. Splenoportography revealed splenic vein occlusion in one patient. One patient died within days of admission with convulsions, coma, and aspiration pneumonia. One patient was lost to follow-up. The remaining 12 patients are all alive and receive regular follow-up. Two patients required splenorenal shunt. In view of the prevalence of consanguinity in Saudi Arabia, the diagnosis of CHF should be considered in children with hepatomegaly despite normal liver function tests, and particularly in those with renal abnormalities and/or evidence of portal hypertension.