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."/>
新生儿先天性肺泡蛋白沉积症1例
Congenital pulmonary alveolar proteinosis in a neonate
HAN Jun-Yan, ZHANG Rong, ZHOU Jian-Guo, HU Li-Yuan, QIAN Li-Ling, LU Ai-Zhen, YANG Lin, MA Yang-Yang, QIAO Zhong-Wei, ZHANG Lan
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
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.
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