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."/>
Congenital pulmonary alveolar proteinosis in a neonate
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.
Cho K, Nakata K, Ariga T, et al. Successful treatment of congenital pulmonary alveolar proteinosis with intravenous immunoglobulin G administration[J]. Respirology, 2006, 11 (Suppl): S74-S77. PMID: 16423278. DOI: 10.1111/j.1440-1843.2006.00814.x.
Rossi SE, Erasmus JJ, Volpacchio M, et al. "Crazy-paving" pattern at thin-section CT of the lungs: radiologic-pathologic overview[J]. Radiographics, 2003, 23(6): 1509-1519. PMID: 14615561. DOI: 10.1148/rg.236035101.
Frazier AA, Franks TJ, Cooke EO, et al. From the archives of the AFIP: pulmonary alveolar proteinosis[J]. Radiographics, 2008, 28(3): 883-899. PMID: 18480490. DOI: 10.1148/rg.283075219.
Ishii H, Trapnell BC, Tazawa R, et al. Comparative study of high-resolution CT findings between autoimmune and secondary pulmonary alveolar proteinosis[J]. Chest, 2009, 136(5): 1348-1355. PMID: 19892674. DOI: 10.1378/chest.09-0097.
Kadota N, Nakahira N, Miyauchi M, et al. Usefulness of bronchoalveolar lavage (BAL) in the diagnosis of pulmonary alveolar proteinosis[J]. QJM, 2022, 115(11): 767-768. PMID: 35809073. DOI: 10.1093/qjmed/hcac168.
Doan ML, Guillerman RP, Dishop MK, et al. Clinical, radiological and pathological features of ABCA3 mutations in children[J]. Thorax, 2008, 63(4): 366-373. PMID: 18024538. DOI: 10.1136/thx.2007.083766.
