AlAnazi AlNashmi, Epaud Ralph, Heena Humariya, de Becdelievre Alix, Miqdad Abeer Mohammad, Fanen Pascale
Department of Pediatrics, Security Forces Hospital, Alfaisal University, Riyadh, Saudi Arabia.
Department of Pediatrics, Creteil Intercommunal Hospital, France.
Ann Thorac Med. 2017 Jul-Sep;12(3):213-215. doi: 10.4103/atm.ATM_386_16.
Defects in the surfactant biosynthesis are associated with respiratory distress syndrome, commonly occurring in premature infants due to lung immaturity. However, interstitial lung diseases have also been observed in full-term infants with mutations in the SFTPC, SFTPB, NKX2-1, or ABCA3 genes, involved in the surfactant metabolism. Herein, we report a newborn baby with neonatal respiratory distress and diffuse lung disease caused by ABCA3 mutation. The baby died at 5 weeks of age after developing pulmonary hypertension. Genomic DNA was analyzed for four genes involved in surfactant metabolism out of which the c. 4545C>G (p.Tyr1515*) homozygous mutation in exon 29 of ABCA3 was identified which is one of the most frequent mutation causing lethal neonatal respiratory failure in a term neonate. This case study emphasizes the importance of raising awareness about this diagnosis in the clinical settings for fruitful outcomes in health-care delivery.
表面活性剂生物合成缺陷与呼吸窘迫综合征相关，常见于因肺不成熟而早产的婴儿。然而，在涉及表面活性剂代谢的SFTPC、SFTPB、NKX2-1或ABCA3基因突变的足月儿中也观察到间质性肺病。在此，我们报告一名因ABCA3突变导致新生儿呼吸窘迫和弥漫性肺病的新生儿。该婴儿在出现肺动脉高压后于5周龄死亡。对参与表面活性剂代谢的四个基因进行了基因组DNA分析，其中在ABCA3第29外显子中鉴定出c. 4545C>G（p.Tyr1515*）纯合突变，这是导致足月新生儿致命性新生儿呼吸衰竭的最常见突变之一。本病例研究强调了在临床环境中提高对该诊断的认识对于医疗保健提供取得丰硕成果的重要性。
