Fatal Respiratory Failure in a Term Newborn Due to Non-previously Described Compound Heterozygous ABCA3 Mutations

Abstract

The adenosine triphosphate binding cassette member A3 (ABCA3) is a lipid transporter involved in pulmonary surfactant biogenesis. ABCA3 deficiency is increasingly being recognized as a cause of respiratory distress syndrome in term neonates. The clinical spectrum and severity of lung disease caused by ABCA3 mutations vary widely. We present a term newborn who presented respiratory distress short afterbirth. Despite treatment and supportive care, she developed a refractory progressive hypoxic respiratory failure and she died. She received repeated surfactant doses always with transient improvement. She was found to be a compound heterozygote for 2 non-previously described ABCA3 gene mutations, one inherited from each parent.