Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.
J Pediatr
; 231: 278-283.e2, 2021 04.
Article
em En
| MEDLINE
| ID: mdl-33359301
ABSTRACT
ABCA3 deficiency is a rare cause of neonatal respiratory failure. Biallelic complete loss of function variants lead to neonatal demise without lung transplantation, but children with partial function variants have variable outcomes. The favorable clinical course of 3 such infants presenting with respiratory distress at birth is described.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome do Desconforto Respiratório do Recém-Nascido
/
Transportadores de Cassetes de Ligação de ATP
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
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Male
/
Newborn
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article