An alpha-1 antitrypsin deficiency screening study in patients with chronic obstructive pulmonary disease, bronchiectasis, or asthma in Turkey

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dc.authorid0000-0002-0657-0392en_US
dc.authorid0000-0001-5321-3964en_US
dc.authorid0000-0002-2443-2639en_US
dc.authorid0000-0002-5180-9649en_US
dc.authorid0000-0002-6923-736Xen_US
dc.contributor.authorOnur, Seda Tural
dc.contributor.authorNatoli, Antonino
dc.contributor.authorDreger, Bettina
dc.contributor.authorArınç, Sibel
dc.contributor.authorSarıoğlu, Nurhan
dc.contributor.authorÇörtük, Mustafa
dc.contributor.authorKaradoğan, Dilek
dc.contributor.authorŞenyiğit, Abdurrahman
dc.date.accessioned2024-03-18T10:26:53Z
dc.date.available2024-03-18T10:26:53Z
dc.date.issued2023en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Göğüs Hastalıkları Ana Bilim Dalıen_US
dc.description.abstractPurpose: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition characterized by decreased serum alpha-1 antitrypsin (AAT) levels. We aim to identify AATD in patients with chronic obstructive pulmonary disease (COPD), bronchiectasis, or asthma and to report the frequency of AAT variants in Turkey. Patients and Methods: This non-interventional, multicenter, prospective study was conducted between October 2021 and June 2022. Adult patients with COPD, bronchiectasis, asthma, liver symptoms, or family members with AATD were included. Demographic and clinical characteristics, pulmonary diagnosis, respiratory symptoms, and AAT serum levels were assessed. Whole blood samples were collected as dried blood spots, and the most common AATD mutations were simultaneously tested by allele-specific genotyping. Results: A total of 1088 patients, mainly diagnosed with COPD (92.7%) and shortness of breath (78.7%), were assessed. Fifty-one (5%) were found to have AATD mutations. Fifteen (29.4%) patients had Pi*S or Pi*Z mutations, whereas 36 (70.6%) patients carried rare alleles Pi*M malton (n=18, 35.3% of mutations), Pi*I (n=8, 16%), Pi*P lowell (n=7, 14%), Pi*M heerlen (n=2, 4%), and Pi*S iiyama (n=1, 2%). The most common heterozygous combinations were Pi*M/Z (n=12, 24%), and Pi*M/M malton (n=11, 22%). Ten patients with severe AATD due to two deficiency alleles were identified, two with the Pi*Z/Z genotype, four with the genotype Pi*M malton/M malton, three with Pi*Z/M malton, and one with Pi*Z/M heerlen. Conclusion: Our results identified AATD mutations as a genetic-based contributor to lung disease in patients with COPD or bronchiectasis and assessed their frequency in a population of Turkish patients.en_US
dc.identifier.citationOnur, S. T., Natoli, A., Dreger, B., Arınç, S., Sarıoğlu, N., Çörtük, M. ve diğerleri. (2023). An alpha-1 antitrypsin deficiency screening study in patients with chronic obstructive pulmonary disease, bronchiectasis, or asthma in Turkey. International Journal of COPD, 18, 2785-2794.en_US
dc.identifier.doi10.2147/COPD.S425835
dc.identifier.endpage2794en_US
dc.identifier.issn1176-9106
dc.identifier.pmid38046982
dc.identifier.scopus2-s2.0-85177742027
dc.identifier.scopusqualityQ1
dc.identifier.startpage2785en_US
dc.identifier.urihttps://www.dovepress.com/getfile.php?fileID=94705
dc.identifier.urihttps://hdl.handle.net/11468/13606
dc.identifier.volume18en_US
dc.identifier.wosWOS:001112778400001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorŞenyiğit, Abdurrahman
dc.language.isoenen_US
dc.publisherDove Medical Press Ltden_US
dc.relation.ispartofInternational Journal of COPD
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAlpha-1 antitrypsin deficiencyen_US
dc.subjectChronic obstructive pulmonary diseaseen_US
dc.subjectDiagnosisen_US
dc.subjectGenotypeen_US
dc.titleAn alpha-1 antitrypsin deficiency screening study in patients with chronic obstructive pulmonary disease, bronchiectasis, or asthma in Turkeyen_US
dc.titleAn alpha-1 antitrypsin deficiency screening study in patients with chronic obstructive pulmonary disease, bronchiectasis, or asthma in Turkey
dc.typeArticleen_US

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