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Surfactant protein deficiency — RACP Paediatrics MCQ

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HardRespiratorySurfactant protein deficiencyRACP Paediatrics

A term neonate has progressive respiratory distress from birth with bilateral hazy lung fields on CXR. Surfactant administration provides no improvement. Family history reveals a sibling who died of respiratory failure in the neonatal period. Genetic testing reveals an ABCA3 mutation. What is the most likely diagnosis?

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Correct answer: C — Surfactant protein deficiency

Refractory neonatal respiratory failure unresponsive to surfactant with a family history of neonatal respiratory death and an ABCA3 mutation is consistent with hereditary surfactant protein deficiency (SP-B deficiency, SP-C deficiency, or ABCA3 mutation). These are autosomal recessive disorders causing lethal or chronic interstitial lung disease. Lung transplantation may be the only option.

Reference: RACP Paediatric Curriculum – Respiratory/Genetics; RCH Melbourne – 2023