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Updated: Apr 26, 2026

Protocol and Guidelines for Point-of-Care Lung Ultrasound in Diagnosing Neonatal Pulmonary Diseases Based on International Expert Consensus
Published on: March 6, 2019
ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome
Nalinikant Panigrahy1, Preetham Kumar Poddutoor, Dinesh Kumar Chirla
1Department 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.
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.
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