Congenital pulmonary alveolar proteinosis in a neonate / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 1089-1094, 2023.
Artículo
en Chino
| WPRIM
| ID: wpr-1009852
ABSTRACT
The male patient was referred to the hospital at 44 days old due to dyspnea after birth and inability to wean off oxygen. His brother died three days after birth due to respiratory failure. The main symptoms observed were respiratory failure, dyspnea, and hypoxemia. A chest CT scan revealed characteristic reduced opacity in both lungs with a "crazy-paving" appearance. The bronchoalveolar lavage fluid (BALF) showed periodic acid-Schiff positive proteinaceous deposits. Genetic testing indicated a compound heterozygous mutation in the ABCA3 gene. The diagnosis for the infant was congenital pulmonary alveolar proteinosis (PAP). Congenital PAP is a significant cause of challenging-to-treat respiratory failure in full-term infants. Therefore, congenital PAP should be considered in infants experiencing persistently difficult-to-treat dyspnea shortly after birth. Early utilization of chest CT scans, BALF pathological examination, and genetic testing may aid in early diagnosis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Proteinosis Alveolar Pulmonar
/
Insuficiencia Respiratoria
/
Lavado Broncoalveolar
/
Disnea
Límite:
Humanos
/
Lactante
/
Masculino
/
Recién Nacido
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2023
Tipo del documento:
Artículo
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