ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome

Indian Pediatr. 2014 Jul;51(7):579-80. doi: 10.1007/s13312-014-0454-4.

Abstract

Background: Surfactant protein abnormalities are rare causes of respiratory distress syndrome.

Case characteristics: A late preterm (36 wks) who presented with respiratory distress syndrome.

Observation: 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.

Outcome: He died of severe respiratory failure even after multiple doses of surfactants and ventilation.

Message: Surfactant deficiency with ABCA3 gene mutation needs to be suspected in late preterms who present with respiratory distress syndrome.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Female
  • Humans
  • Infant, Premature
  • Male
  • Mutation / genetics*
  • Pregnancy
  • Respiratory Distress Syndrome, Newborn*

Substances

  • ABCA3 protein, human
  • ATP-Binding Cassette Transporters