64 • PERINATOLOGY Vol 24 • No. 1 • May–Aug 2023 Case Report Mistri J, et al. Respiratory Failure Due To a Novel Compound Heterozygous ABCA3 Mutation oxygen, and the parents opted to transfer the neonate back to another hospital in their native place where the neonate died. Discussion The ABCA3 protein hydrolyzes ATP to carry substances across biologic membranes. The ABCA3 protein is encoded by an 80-kb gene, that is, ABCA3 (NM_001089.2, gene ID 21). It consists of 1704 amino acids, with 2 domains that are membrane-spanning and 2 domains that are nucleotide-binding. The ABCA3 gene expresses in type 2 alveolar cells, and then confines Figure 1. The Day-1 X-ray of the Neonate on Conventional Ventilation, Suggestive of Ground-Glass Appearance Figure 2. The Day-6 X-ray of the Neonate on HighFrequency Oscillatory Ventilation, Suggestive of Early Interstitial Lung Disease Table. Clinical Exome Sequencing Report of the Neonate Gene and Transcript Variant Location Zygosity Disorder (Online Mendelian Inheritance in Man) Inheritance Classification ABCA3 NM_001089.2 c.1893_1894deICC (p.Gln632Alafs*11) Exon 15 Heterozygous Surfactant Metabolism Dysfunction, Pulmonary, 3 (610921) Autosomal Recessive Likely Pathogenic ABCA3 NM_001089.2 c.558_566deIGCTTTTCCC (p.Leu187_Pro189del) Exon 7 Heterozygous Surfactant Metabolism Dysfunction, Pulmonary, 3 (610921) Autosomal Recessive Likely Pathogenic to the lamellar body membranes and carries phospholipids into the lamellar body. The surfactant, which is a complex protein–phospholipid mixture, is assembled and stored in lamellar bodies.5 The surfactant reduces surface tension and prevents alveolar collapse at endexpiration. Data from in vitro studies show that the ABCA3 protein transports surfactant lipids into lamellar bodies, and it is needed for homeostasis of pulmonary surfactant phospholipids.6 Neonates with the ABCA3 gene mutation usually present with NRF. They are born at full term, with moderate- to-severe respiratory distress. There may not be a
RkJQdWJsaXNoZXIy MjAwNDg=