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

• DOI: 10.1007/s13312-014-0454-4
• Publication Date: 2014-07-31T08:12:45Z
• Authors: Nalinikant Panigrahy; Preetham Kumar Po...; Dinesh Kumar Chirla
• Keywords: Transversion; Lamellar granule

Surfactant protein abnormalities are rare causes of respiratory distress syndrome.A late preterm (36 wks) who presented with respiratory distress syndrome.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.He died of severe respiratory failure even after multiple doses of surfactants and ventilation.Surfactant deficiency with ABCA3 gene mutation needs to be suspected in late preterms who present with respiratory distress syndrome.