Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency

Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency

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 insufficie...

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Veröffentlicht in:The Journal of pediatrics 2017-11, Vol.190, p.268-270.e1
Hauptverfasser: López-Andreu, Juan A., Hidalgo-Santos, Antonio D., Fuentes-Castelló, Miguel A., Mancheño-Franch, Nuria, Cerón-Pérez, Juan A., Esteban-Ricós, Maria J., Pedrola-Vidal, Laia, Nogee, Lawrence M.
Format: Artikel
Sprache:eng
Schlagworte:
case report
Child
corticosteroids
Delayed Diagnosis
Genetic Markers
Homozygote
Humans
Male
Mutation
Pulmonary Alveolar Proteinosis - congenital
Pulmonary Alveolar Proteinosis - diagnosis
Pulmonary Alveolar Proteinosis - genetics
Pulmonary Alveolar Proteinosis - therapy
Pulmonary Surfactant-Associated Protein B - deficiency
Pulmonary Surfactant-Associated Protein B - genetics
SFTPB mutation
SP-B deficiency
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Zusammenfassung: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2017.07.009