RESUMEN

Surfactant protein B encoding gene mutations have been related to early onset fatal respiratory distress in full-term neonates. We report a school-aged male child homozygous for a surfactant protein B encoding gene missense mutation who presented after the neonatal period. His respiratory insufficiency responded to high dose intravenous methylprednisolone and hydroxychloroquine.

Asunto(s)

Diagnóstico Tardío , Proteinosis Alveolar Pulmonar/congénito , Proteína B Asociada a Surfactante Pulmonar/deficiencia , Niño , Marcadores Genéticos , Homocigoto , Humanos , Masculino , Mutación , Proteinosis Alveolar Pulmonar/diagnóstico , Proteinosis Alveolar Pulmonar/genética , Proteinosis Alveolar Pulmonar/terapia , Proteína B Asociada a Surfactante Pulmonar/genética