Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.

ABSTRACT: OBJECTIVE:Genetic surfactant dysfunction causes respiratory failure in term and near-term newborn infants, but little is known of such condition in prematures. We evaluated genetic surfactant dysfunction in premature newborn infants with severe RDS. PATIENTS AND METHODS:A total of 68 preterm newborn infants with gestational age ≤32 weeks affected by unusually severe RDS were analysed for mutations in SFTPB, SFTPC and ABCA3. Therapies included oxygen supplementation, nasal CPAP, different modalities of ventilatory support, administration of exogenous surfactant, inhaled nitric oxide and steroids. Molecular analyses were performed on genomic DNA extracted from peripheral blood and Sanger sequencing of whole gene coding regions and intron junctions. In one case histology and electron microsco

SUBMITTER: Somaschini M 

PROVIDER: S-EPMC5953905 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature