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Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome
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 newbo...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group US
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953905/ https://www.ncbi.nlm.nih.gov/pubmed/29255193 http://dx.doi.org/10.1038/s41372-017-0018-2 |
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author | Somaschini, Marco Presi, Silvia Ferrari, Maurizio Vergani, Barbara Carrera, Paola |
author_facet | Somaschini, Marco Presi, Silvia Ferrari, Maurizio Vergani, Barbara Carrera, Paola |
author_sort | Somaschini, Marco |
collection | PubMed |
description | 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 microscopy on lung tissue was performed. RESULTS: Heterozygous 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. |
format | Online Article Text |
id | pubmed-5953905 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Nature Publishing Group US |
record_format | MEDLINE/PubMed |
spelling | pubmed-59539052018-05-17 Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome Somaschini, Marco Presi, Silvia Ferrari, Maurizio Vergani, Barbara Carrera, Paola J Perinatol Article 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 microscopy on lung tissue was performed. RESULTS: Heterozygous 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. Nature Publishing Group US 2017-12-19 2018 /pmc/articles/PMC5953905/ /pubmed/29255193 http://dx.doi.org/10.1038/s41372-017-0018-2 Text en © The Author(s) 2017 Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, and provide a link to the Creative Commons license. You do not have permission under this license to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/. |
spellingShingle | Article Somaschini, Marco Presi, Silvia Ferrari, Maurizio Vergani, Barbara Carrera, Paola Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome |
title | Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome |
title_full | Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome |
title_fullStr | Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome |
title_full_unstemmed | Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome |
title_short | Surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome |
title_sort | surfactant proteins gene variants in premature newborn infants with severe respiratory distress syndrome |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953905/ https://www.ncbi.nlm.nih.gov/pubmed/29255193 http://dx.doi.org/10.1038/s41372-017-0018-2 |
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