Congenital pulmonary alveolar proteinosis in a neonate / 中国当代儿科杂志

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.

Study on the relationship between synonymous mutation of ABCA3 gene and neonatal respiratory distress syndrome of mongolian and han nationality in inner mongolia / 中华急诊医学杂志

Objective:To investigate whether the synonymous variation of the ATP-binding cassette transporter A3 (ABCA3) gene may increase the risk of respiratory distress syndrome (RDS) in Mongolian and Han newborns in Inner Mongolia.Methods:From January 2018 to June 2019, the children of Mongolian and Han nationality who were hospitalized in the Department of Neonatal Pediatrics, affiliated Hospital of Inner Mongolia Medical University and the control group were sequenced by ABCA3 exon gene to analyze whether there was synonymous mutation in ABCA3 gene.Results:A total of 101 children with RDS were enrolled, including 37 children with Mongolian and 64 with Han children. There were 113 patients in the control group, including 45 Mongolian children and 68 Han children. Children with Mongolian and Han nationality RDS and control group can detect multiple synonymous mutation sites, such as: F353F, P585P, A227A, V150V, L982L, A928A, S1372S, P1653P, E1618E, and A1027A, etc, among them, four synonymous variants of p.A227A, p.F353F, p.P585P and p.S1372S are common synonymous mutants. In both Mongolian and Han nationality, the frequency of ABCA3 gene synonymous mutation in RDS group was significantly higher than that in control group (Mongolian: χ2=9.402, P=0.002; Han: χ2=9.348, P=0.002 ). The mutation rates of F353F and P585P in Mongolian and Han children with RDS were higher than those in the control group, and the difference was statistically significant(Mongolian F353F: χ2=5.270, P=0.022; Han F353F: χ2=5.532, P=0.019.Mongolian P585P: χ2=4.711, P=0.030; Han P585P: χ2=4.480, P=0.034). Conclusions:The synonymous variation of ABCA3 gene may increase the risk of RDS in Mongolian and Han newborns in Inner Mongolia, and F353F and P585P may be one of the susceptible genes of RDS in Mongolian and Han newborns in Inner Mongolia.

Correlation between ABCA3 and Pediatric Pulmonary Disease / 临床儿科杂志

Pulmonary surfactant is a lipid-protein complex that lines and stabilizes the respiratory interface in the alveoli, allowing for gas exchange during the breathing cycle. ATP-binding Cassette transporters A3, is a lipid transporter in the limiting membrane of lamellar bodies in alveolar type Ⅱ cells that plays a critical role in the regulation of pulmonary surfactant homeostasis. Mutations in the ABCA3 gene cause respiratory distress syndrome in new-born and childhood interstitial lung disease. An updated view on expression of ABCA3 gene and ABCA3 mutation associated with neonatal respiratory distress syndrome,or childhood interstitial lung disease was reviewed.