ABCA3 Gene Defect - Cause of Severe Respiratory Distress and Failure in Newborn

Surfactant metabolism disorders are rare cause of RDS in term neonates. A near term male neonate presented with respiratory distress syndrome (required Surfactant multiple times) with family history of one still birth and one neonatal death due to RDS in previous siblings. A homozygous missense variation in exon 7 of the ABCA3 gene that results in the amino acid substitution of leucine for proline at codon 186 was detected. He died of severe respiratory failure even after multiple doses of surfactant and ventilation. Surfactant deficiency with ABCA3 gene mutation needs to be suspected in term neonate who present with respiratory distress syndrome with family history or neonatal death with respiratory distress. Keywords: ABCA3 gene defect, Respiratory distress syndrome (RDS), neonates, neonatal death.