[Lung diseases associated with inherited disorders of surfactant metabolism]. / Pathologies respiratoires associées à des anomalies héréditaires du métabolisme du surfactant.
Arch Pediatr
; 15(10): 1560-7, 2008 Oct.
Article
em Fr
| MEDLINE
| ID: mdl-18804975
ABSTRACT
Lung diseases associated with surfactant-metabolism disorders are a heterogeneous group of rare diseases. Intra-alveolar accumulation of protein related to surfactant dysfunction leads to cough, hypoxemia, and radiological-diffuse infiltration. Inherited deficiency of pulmonary surfactant protein B (SP-B) was initially described in infants who develop respiratory failure at birth. More recently, mutations in other constitutive surfactant proteins, such as surfactant protein C or implied in its metabolism, such as ATP-binding cassette, subfamily A, member 3 (ABCA3) and thyroid transcription factor 1 (TTF-1) were identified in newborns with respiratory distress as well as in children with chronic-infiltrative pneumonia. The aim of this review is therefore to summarize the current state of our knowledge in this area.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transportadores de Cassetes de Ligação de ATP
/
Proteínas Associadas a Surfactantes Pulmonares
/
Proteínas de Ligação a DNA
/
Pneumopatias
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Child
/
Humans
Idioma:
Fr
Revista:
Arch Pediatr
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
França