Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant.
J Perinatol
; 34(12): 951-3, 2014 Dec.
Article
em En
| MEDLINE
| ID: mdl-25421131
ABSTRACT
Inherited disorders of surfactant metabolism are manifested in neonatal period as a severe respiratory failure not responding to exogenous surfactant administration. We illustrate the case of a term newborn with respiratory failure because of compound heterozygous mutation in adenosine triphosphate-binding cassette transporter A3 (ABCA3)-in exon 24 M1227R and in exon 29 Ins1510fs/ter1519. These mutations of ABCA3 have not been described yet and expand the group of lethal ABCA3 variants.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Insuficiência Respiratória
/
Transportadores de Cassetes de Ligação de ATP
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
J Perinatol
Assunto da revista:
PERINATOLOGIA
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
República Tcheca