title: ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome.
abstract: BACKGROUND
  Surfactant protein abnormalities are rare causes of respiratory distress syndrome.
  
  
  METHODS
  A late preterm (36 wks) who presented with respiratory distress syndrome.
  
  
  METHODS
  He was found to be a homozygous for a G to T transversion at the first base in intron 24, of ABCA3 gene which is necessary for lamellar body formation and surfactant production.
  
  
  RESULTS
  He died of severe respiratory failure even after multiple doses of surfactants and ventilation.
  
  
  CONCLUSIONS
  Surfactant deficiency with ABCA3 gene mutation needs to be suspected in late preterms who present with respiratory distress syndrome.
authors.affiliation: Department of Neonatology, Rainbow Childrens Hospital and Perinatal Center, Hyderabad, Andhra Pradesh, India. Correspondence to: Dr Preetham Kumar Poddutoor, Department of Neonatology, Rainbow Childrens Hospital and Perinatal Center, Hyderabad, Andhra Pradesh, India. drpreethamp@gmail.com.
authors.forename: Nalinikant
authors.initials: N
authors.lastname: Panigrahy
authors.forename: Preetham Kumar
authors.initials: PK
authors.lastname: Poddutoor
authors.forename: Dinesh Kumar
authors.initials: DK
authors.lastname: Chirla
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D005260:Female; D006801:Humans; D007234:Infant, Premature; D008297:Male; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D012127:Respiratory Distress Syndrome, Newborn
chemical_list: C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters