Respiratory Failure in a Term Neonate Due To a Novel Compound Heterozygous ABCA3 Mutation

Jatin Mistri, Ankur Patel, Ravi Parikh, Anuj Grover

Abstract

Surfactant metabolism disorders have been identified as one of the causes of respiratory diseases in neonatal and pediatric populations. ATP-binding cassette subfamily A member 3 (ABCA3) is a protein expressed during the synthesis of lung surfactants, and genetic mutations in the gene that expresses this protein are the most common cause of inborn errors of surfactant metabolism. ABCA3 gene mutations in full-term neonates present as moderate-to-severe respiratory distress and signs of diffuse lung disease, which can eventually lead to neonatal respiratory failure and interstitial lung disease in older children. More than 200 mutations of the ABCA3 gene have been reported among diverse ethnicities and geographic locations. Currently, there is no specific treatment for this condition, and there is no intervention that can slow down the severity of the illness in neonates. However, lung transplantation has been reported to enhance survival.

In this case report, we discuss a case of a full-term male neonate who presented with respiratory failure and was diagnosed to have a compound novel heterozygous mutation in exon 15 and exon 7 of the ABCA3 gene. ABCA3 mutations should be considered in the differential diagnosis in newborns when presented with unexplained respiratory distress syndrome.