Congenital pulmonary alveolar proteinosis in a neonate.
10.7499/j.issn.1008-8830.2307035
- Author:
Jun-Yan HAN
1
;
Rong ZHANG
1
;
Jian-Guo ZHOU
1
;
Li-Yuan HU
1
;
Li-Ling QIAN
;
Ai-Zhen LU
;
Lin YANG
;
Yang-Yang MA
;
Zhong-Wei QIAO
;
Lan ZHANG
1
Author Information
1. Department of Neonatology, Children's Hospital of Fudan University/National Children's Medical Center/Key Laboratory of Neonatal Diseases, Ministry of Health, Shanghai 201102, China.
- Publication Type:Journal Article
- Keywords:
ABCA3 gene;
Neonate;
Pulmonary alveolar proteinosis;
Respiratory failure
- MeSH:
Infant;
Infant, Newborn;
Humans;
Male;
Bronchoalveolar Lavage/adverse effects*;
Pulmonary Alveolar Proteinosis/pathology*;
Dyspnea/etiology*;
Respiratory Insufficiency
- From:
Chinese Journal of Contemporary Pediatrics
2023;25(10):1089-1094
- CountryChina
- Language:Chinese
-
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.
