Alpha-1-Antitrypsin Deficiency — RACP Paediatrics MCQ

Instant feedback + full explanation. One question, done properly.

HardGastroenterologyAlpha-1-Antitrypsin DeficiencyRACP Paediatrics

A 7-year-old boy has chronic liver disease. He is found to have low serum alpha-1-antitrypsin levels. His liver biopsy shows PAS-positive, diastase-resistant globules. What is the diagnosis?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: E — Alpha-1-antitrypsin deficiency

A1AT deficiency (PiZZ phenotype) can present with neonatal cholestasis or chronic liver disease in older children. PAS-positive, diastase-resistant globules on liver biopsy are characteristic. Pi typing confirms the diagnosis. There is no specific treatment; liver transplantation may be required.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Chronic Liver Disease