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| Ultima descărcare din IBN: 2021-07-06 01:07 |
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| 612.017:616.24-002-053.2:575.224 (1) |
| Fiziologie. Fiziologie umană și comparată (725) |
| Patologia sistemului respirator. Tulburări ale organelor de respiraţie (757) |
| Genetică generală. Citogenetică generală (427) |
 SM ISO690:2012MIKHALENKA, Alena, MALYSHAVA, V., ARTSIUSHEUSKAYA, M., KILCHEVSKY, A., SHYSHKO, G.. ABCA3 gene mutations in 2 premature infants with respiratory distress syndrome. In: International Congress of Geneticists and Breeders from the Republic of Moldova, Ed. 11, 15-16 iunie 2021, Chişinău. Chișinău, Republica Moldova: Centrul Editorial-Poligrafic al Universităţii de Stat din Moldova, 2021, Ediția 11, p. 56. ISBN 978-9975-933-56-8. DOI: https://doi.org/10.53040/cga11.2021.039 |
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| International Congress of Geneticists and Breeders from the Republic of Moldova Ediția 11, 2021 |
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Congresul "International Congress of Geneticists and Breeders from the Republic of Moldova" 11, Chişinău, Moldova, 15-16 iunie 2021 | ||||||
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| DOI:https://doi.org/10.53040/cga11.2021.039 | ||||||
| CZU: 612.017:616.24-002-053.2:575.224 | ||||||
| Pag. 56-56 | ||||||
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Search for the pathogenic variants of the ABCA3 gene in 2 premature infants with severe respiratory distress syndrome (RDS). Method: performing next-generation sequencing using the TruSight One Sequencing Panel by Illumina followed by the processing of the obtained data (FASTQ files) using the Enrichment algorithm (Illumina) to clarify the causes of the severe course of the disease. Child A. was born in the period of 29-30 weeks with a weight of 1360 grams and a height of 39 cm. The child's health status at birth was severe due to RDS. From the 9th day of life, the child was transferred to non-invasive ventilation (nCPAP) with an oxygen dependence of 30-25%. The oxygen dependence at 23-22% was supported on spontaneous respiration during the next 13 days of life. The child has a pathogenic heterozygous variant p.Glu292Val (rs149989682) in exon 9 of the ABCA3 gene, which is the most common ABCA3 mutation registered in children. Child J. was born at 28-29 weeks with a weight of 1160 grams and 39 cm in height. The child's health status at birth was severe due to RDS. On the 12th day of life, the child was transferred to high-frequency ventilation due to the ineffectiveness of conventional ventilation. The ventilation parameters were gradually decreasing from the 13th day, and on the 15th day, the child was intubated. Oxygen dependence on spontaneous respiration persisted up to 65 days of life. Two heterozygous variants p.Ala54Val (rs759790104) and p.Arg288Lys (rs117603931) of the ABCA3 gene were found in child G. In the GnomAD database, the heterozygous variant p.Ala54Val is registered only in one patient. The variant belongs to probable pathogenic according to pathogenicity prediction programs. The ABCA3 gene is critical for the synthesis and processing of pulmonary surfactant. Mutations in this gene are associated with a hereditary disorder of surfactant metabolism, severe respiratory distress syndrome, and respiratory failure. It is possible to assume that the severe clinical course of RDS is associated with the presence of detected ABCA3 mutations in our patients. Long-term oxygen dependence (65 days) and a more severe course of RDS in patient G. are probably due to the presence of 2 compound heterozygous ABCA3 variants. |
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