Delayed Presentation and Prolonged Survival of a Child with Surfactant Protein B Deficiency.
J Pediatr
; 190: 268-270.e1, 2017 11.
Article
en En
| MEDLINE
| ID: mdl-28888561
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteinosis Alveolar Pulmonar
/
Proteína B Asociada a Surfactante Pulmonar
/
Diagnóstico Tardío
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr
Año:
2017
Tipo del documento:
Article