The adenosine triphosphate binding cassette member A3 (ABCA3) is a lipid transporter involved in pulmonary surfactant biogenesis. ABCA3 deficiency is increasingly being recognized as a cause of respiratory distress syndrome in term neonates. The clinical spectrum and severity of lung disease caused by
ABCA3 mutations vary widely. We present a term newborn who presented respiratory distress short afterbirth. Despite treatment and supportive care, she developed a refractory progressive hypoxic respiratory failure and she died. She received repeated surfactant doses always with transient improvement. She was found to be a compound heterozygote for 2 non-previously described ABCA3 gene mutations, one inherited from each parent.
HamvasA.Evaluation and management of inherited disorders of surfactant metabolism. Chin Med J. 2010;123(20):250–254.
2.
WertSE, WhitsettJA, NogeeLM.Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 2009;12(4):253–274.
3.
RezaeiF, ShafieiM, ShariatiG, DehdashtianA, MohebbiM, GalehdariH.Novel mutation in the ATP-binding cassette transporter A3 (ABCA3) encoding gene causes respiratory syndrome in a term newborn in southwest Iran. Iran J Pediatr. 2016;26(2):e2493.
4.
ManaliED, LegendreM, NathanN. Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood. ERJ Open Res2019;5:0066–2019.
WambachJA, CaseyAM, FishmanMP. Genotype-phenotype correlations for infants and children with ABCA3 deficiency. Am J Respir Crit Care Med. 2014;189(12):1538–1543.
7.
WeiM, FuH, HanA, MaL.A term neonatal case with lethal respiratory failure associated with a novel homozygous mutation in ABCA3 gene. Front Pediatr. 2020;8:138.
8.
PachajoaH, Ruiz-BoteroF, Meza EscobarLE. Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report. J Med Case Rep. 2016;10:266.
9.
JouzaM, JimramovskyT, SloukovaE. A Newly observed mutation of the ABCA3 gene causing lethal respiratory failure of a full-term newborn: a case report. Front Genet. 2020;11: 568303.
10.
GonçalvesJP, PinheiroL, CostaM, SilvaA, GonçalvesA, PereiraA.Novel ABCA3 mutations as a cause of respiratory distress in a term newborn. Gene. 2014;534:417–420.
11.
JacksonT, WegnerDJ, WhiteFV, HamvasA, Sessions ColeF, WambachJA.Respiratory failure in a term infant with cis and trans mutations in ABCA3. J Perinatol. 2015;35(3):231–232.
12.
PiersigilliF, PecaD, CampiF. New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3. Pediatr Int. 2015;57:970–974.
13.
CiantelliM, GhirriP, PresiS. Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report. J Perinatol. 2011;31:70–72.
14.
MagnaniJE, DonnSM.Persistent respiratory distress in the term neonate: genetic surfactant deficiency diseases. Curr Pediatr Rev. 2020;16:17–25.
15.
WambachJA, WegnerDJ, DePassK. Single ABCA3 mutations inscrease risk for neonatal respiratory distress syndrome. Pediatrics. 2012;130(6):e1575–e1582.
16.
KitazawaH, MoriyaK, NiizumaH. Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations. Eur J Pediatr. 2013;172:953–957.
17.
GuptaNP, BatraA, PuriR, MeenaV.Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant. BMJ Case Rep. 2020;13:e235520.
18.
MalýJ, NavrátilováM, HornychováH, LoomanAC.Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant. J Perinatol. 2014;34:951–953.
19.
GarmanyTH, WambachJA, HeinsHB. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res. 2008;63(6):645–649.
20.
HallikM, AnniloT, IlmojaML.Different course of lung disease in two siblings with novel ABCA3 mutations. Eur J Pediatr. 2014;173:1553–1556.
21.
BushA, GilbertC, GregoryJ. Interstitial lung disease in infancy. Early Hum Dev. 2020;150105186.
22.
DoanML, GuillermanRP, DishopMK. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax. 2008;63:366–373.
23.
MitsiakosG, TsakalidisC, KaragianniP. A new ABCA3 gene mutation c.3445G>A (p.Asp1149Asn) as a causative agent of newborn lethal respiratory distress syndrome. Medicina. 2019;55:389.
24.
OltvaiN, SmithA, WiensK. Neonatal respiratory failure due to novel compound heterozygous mutations in the ABCA3 lipid transporter. Cold Spring Harb Mol Case Stud. 2020; 6:a005074.
25.
ThouveninG, NathanN, EpaudR, ClementA.Diffuse parenchymal lung disease caused by surfactant deficiency: dramatic improvement by azithromycin. BMJ Case Rep. 2013;2013: bcr2013009988.
26.
HayesD, LloydEA, FitchJA, BushA.ABCA3 transporter deficiency. Am J Respir Crit Care Med. 2012;186:807.
27.
EldridgeW, ZhangQ, FaroA. Outcomes of lung transplantation for infants and children with genetic disorders of surfactant metabolism. J Pediatr. 2017;184:157–164.
