Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.
Pediatr Pulmonol
; 49(3): E112-5, 2014 Mar.
Article
en En
| MEDLINE
| ID: mdl-24347240
ABSTRACT
Lung diseases caused by surfactant protein C (SFTPC) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritance that is discussed in this report.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Proteinosis Alveolar Pulmonar
/
Síndrome de Dificultad Respiratoria
/
Proteína C Asociada a Surfactante Pulmonar
/
Homocigoto
/
Pulmón
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Pediatr Pulmonol
Asunto de la revista:
PEDIATRIA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Turquía