ArticleJournal of perinatology : official journal of the California Perinatal Association2018
Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome.
Article in Journal of perinatology : official journal of the California Perinatal Association, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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Who cites it
21 citing papers in PubMed, 32 citations in OpenAlex.
- Respiratory Outcomes in Children With Neonatal Respiratory Distress Syndrome and Monoallelic ABCA3 Variants.Pediatric pulmonology · 2026Article
- A rare interstitial lung disease in young adulthood due to surfactant protein C gene mutation: Two case reports with brief literature review.Radiology case reports · 2025Article
- Genetic Disorders of Surfactant Metabolism.NeoReviews · 2025Review
- Neonatal meconium aspiration syndrome associated with ABCA3 gene mutation and mycoplasma infection: a case report.BMC pediatrics · 2025Article
- Review
- Descriptive and Functional Genomics in Neonatal Respiratory Distress Syndrome: From Lung Development to Targeted Therapies.International journal of molecular sciences · 2024Review
- Lung biopsy in infants with severe bronchopulmonary dysplasia.Pediatric pulmonology · 2023Article
- Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins.World journal of pediatrics : WJP · 2023Article
- Surfactant proteins and innate immunity of otitis media.Innate immunity · 2022Review
- Surfactant proteins analysis in perinatal deceased preterm twins among the Romanian population.Medicine · 2022Article
- Out-of-hospital births and the experiences of emergency ambulance clinicians and birthing parents: a scoping review protocol.BMJ open · 2022Article
- Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.Pediatric pulmonology · 2022Article
- Article
- The Common Haplotype GATGACA in Surfactant-Protein B Gene Is Protective for Respiratory Distress Syndrome in Preterm Neonates.Frontiers in pediatrics · 2022Article
- Rare-variant collapsing analyses identified risk genes for neonatal acute respiratory distress syndrome.Computational and structural biotechnology journal · 2022Article
- Surfactant protein disorders in childhood interstitial lung disease.European journal of pediatrics · 2021Review
- Genetic disorders of the surfactant system: focus on adult disease.European respiratory review : an official journal of the European Respiratory Society · 2021Article
- Article
- Efficacy comparison of high-frequency oscillatory ventilation with continuous nasal positive airway pressure in neonatal respiratory distress syndrome treatment.American journal of translational research · 2021Article
- Single Nucleotide Polymorphisms Interactions of the Surfactant Protein Genes Associated With Respiratory Distress Syndrome Susceptibility in Preterm Infants.Frontiers in pediatrics · 2021Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveGenetic 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
methodsA 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 microscopy on lung tissue was performed.
resultsHeterozygous previously described rare or novel variants in surfactant proteins genes ABCA3, SFTPB and SFTPC were identified in 24 newborn infants. In total, 11 infants died at age of 2 to 6 months. Ultrastructural analysis of lung tissue of one infant showed features suggesting ABCA3 dysfunction. DISCUSSION: Rare or novel genetic variants in genes encoding surfactant proteins were identified in a large proportion (35%) of premature newborn infants with particularly severe RDS. We speculate that interaction of developmental immaturity of surfactant production in association with abnormalities of surfactant metabolism of genetic origin may have a synergic worsening phenotypic effect.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.