Respiratory distress syndrome due to a novel homozygous ABCA3 mutation in a term neonate.
BMJ Case Rep
; 20112011 Mar 03.
Article
en En
| MEDLINE
| ID: mdl-22707629
ABSTRACT
The authors report, for the first time in the literature, a case of respiratory distress syndrome in a term baby due to homozygosity for a p.Trp308Arg/W308R substitution in the ATP-binding cassette transporter 3. The sequence was confirmed by genetic analysis of the baby and both parents. Management and long-term outcome of a patient carrying this novel genetic defect have not been reported in the literature before. Currently, lung transplant appears to be the only long-term survival option available, for which, our patient is being evaluated.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Dificultad Respiratoria del Recién Nacido
/
Transportadoras de Casetes de Unión a ATP
/
Mutación
Límite:
Female
/
Humans
/
Newborn
Idioma:
En
Revista:
BMJ Case Rep
Año:
2011
Tipo del documento:
Article