Overview
Biliary atresia is a severe liver disorder that requires early diagnosis. Without timely intervention, the condition can escalate into chronic liver failure, usually resulting in death before the age of 2.
Presentation
1. Jaundice: Yellowing of the skin and eyes.
2. Pale Stools and Dark Urine: Indicative of liver dysfunction.
3. Hepatomegaly: Liver enlargement, usually palpable around 3-4 weeks after onset.
.4. Splenomegaly: Generally, not a feature unless presentation is late.
5. Failure to Thrive: Occurs due to poor nutrient absorption related to liver dysfunction.
Diagnosis
i. Blood Tests: Elevated levels of conjugated bilirubin (CB >50% of total bilirubin) and abnormal liver function tests. Gamma-glutamyl transferase (GGT) is typically high.
ii. Abdominal Ultrasound: Used for initial evaluation.
iii. Cholangiogram: To assess bile ducts.
iv. Liver Histology: Obtained via percutaneous biopsy and provides a definitive diagnosis.
Treatment
Referral to paediatric surgery for surgical repair is required.
Further Reading: Biliary Atresia