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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Bibliographic Details
Published in:	The Journal of pediatrics Vol. 190; pp. 268 - 270.e1
Main Authors:	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:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-11-2017
Subjects:	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 CT SFTPB corticosteroids SP-B SFTPB mutation case report SP-B deficiency child
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2017.07.009