Congenital surfactant deficiency due to ABCA3 mutations leading to fatal respiratory failure in a newborn

Abstract

Inherited disorders of surfactant metabolism present as acute severe respiratory failure in the neonatal period or as chronic respiratory insufficiency in later infancy and childhood. We report the first case of genetically proved surfactant deficiency in term newborn in the Czech Republic leading to lethal respiratory failure.

This is also the first proof of these mutations at all. The two heterozygous mutations in ABCA3 gene - in exon 24 M 1227R and in exon 29Ins1510fs/ter1519 have never been published yet.

Keywords

• newborn
• surfactant deficiency
• ABCA3 mutations