Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant

Abstrakt

Inherited disorders of surfactant metabolism are manifested in neonatal period as a severe respiratory failure not responding to exogenous surfactant administration. We illustrate the case of a term newborn with respiratory failure because of compound heterozygous mutation in adenosine triphosphate-binding cassette transporter A3 (ABCA3)-in exon 24 M1227R and in exon 29 Ins1510fs/ter1519.

These mutations of ABCA3 have not been described yet and expand the group of lethal ABCA3 variants.

Klíčová slova

• fatal surfactant deficiency
• interstitial lung-disease
• disorders of surfactant metabolism