Clinical course and long-term follow-up of a preterm infant with non-fatal respiratory distress syndrome due to heterozygous ABCA3 gene mutation: A case report and review of literature.

Abstract excerpt

BACKGROUND: Adenosine triphosphate-binding cassette transporter A3 (ABCA3) mutations are recognized as a congenital cause of surfactant deficiency. Clinical presentations of such mutations are largely variable. There are many mutations of the ABCA3 gene, of which, p.E292V is the most common. Despite being the most common ABCA3 gene mutation, there is limited literature on extra pulmonary and long-term outcomes of...

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