Congenital alveolar proteinosis
Saudi Medical Journal. 2004; 25 (10): 1474-1477
em Inglês
| IMEMR
| ID: emr-68437
ABSTRACT
Pulmonary alveolar proteinosis is recently described as a rare cause of lung dysfunction and respiratory distress in term neonates. In several cases, a deficiency or insufficiency of surfactant protein B SP-B has been caused by a frame shift mutation in the gene encoding SP-B. Three siblings with congenital pulmonary alveolar proteinosis showed clinical and radiological evidence. Histopathological and immunohistochemical studies in the last sibling revealed deficiency of SP-B, one of the group of 3 specific lipoproteins that reduce the surface tension between air and liquid interface within pulmonary alveoli, suggesting a gene associated illness
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Proteinose Alveolar Pulmonar
/
Síndrome do Desconforto Respiratório do Recém-Nascido
/
Surfactantes Pulmonares
/
Predisposição Genética para Doença
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Saudi Med. J.
Ano de publicação:
2004
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