Show simple item record

dc.creatorBeletić, Anđelo
dc.creatorDudvarski-Ilić, Aleksandra
dc.creatorMilenković, Branislava
dc.creatorNagorni-Obradović, Ljudmila
dc.creatorLjujić, Mila
dc.creatorĐorđević, Valentina
dc.creatorMirković, Duško
dc.creatorRadojković, Dragica
dc.creatorMajkić-Singh, Nada
dc.date.accessioned2019-09-02T11:41:42Z
dc.date.available2019-09-02T11:41:42Z
dc.date.issued2014
dc.identifier.issn1330-0962
dc.identifier.urihttp://farfar.pharmacy.bg.ac.rs/handle/123456789/2204
dc.description.abstractIntroduction: Alpha-1-antitrypsin deficiency (AATD), genetic risk factor for premature chronic obstructive pulmonary disease (COPD), often remains undetected. The aim of our study was to analyse the effectiveness of an integrative laboratory algorithm for AATD detection in patients diagnosed with COPD by the age of 45 years, in comparison with the screening approach based on AAT concentration measurement alone. Subjects and methods: 50 unrelated patients (28 males / 22 females, age 52 (24-75 years) diagnosed with COPD before the age of 45 years were enrolled. Immunonephelometric assay for alpha-1-antitrypsin (AAT) and PCR-reverse hybridization for Z and S allele were first-line, and isoelectric focusing and DNA sequencing (ABI Prism BigDye) were reflex tests. Results: AATD associated genotypes were detected in 7 patients (5 ZZ, 1 ZM(malton), 1 ZQ0(amersfoort)), 10 were heterozygous carriers (8 MZ and 2 MS genotypes) and 33 were without AATD (MM genotype). Carriers and patients without AATD had comparable AAT concentrations (P = 0.125). In majority of participants (48) first line tests were sufficient to analyze AATD presence. In two remaining cases reflex tests identified rare alleles, M-malton and Q0(amersfoort), the later one being reported for the first time in Serbian population. Detection rate did not differ between algorithm and screening both for AATD (P = 0.500) and carriers (P = 0.063). Conclusion: There is a high prevalence of AATD affected subjects and carriers in a group of patients with premature COPD. The use of integrative laboratory algorithm does not improve the effectiveness of AATD detection in comparison with the screening based on AAT concentration alone.en
dc.publisherCroatian Soc Medical Biochemists, Zagreb
dc.relationinfo:eu-repo/grantAgreement/MESTD/Basic Research (BR or ON)/175036/RS//
dc.rightsopenAccess
dc.sourceBiochemia Medica
dc.subjectalpha-1-antitrypsin deficiencyen
dc.subjectdiagnostic techniques and proceduresen
dc.subjectpulmonary diseaseen
dc.subjectchronic obstructiveen
dc.titleIs an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach?en
dc.typearticle
dc.rights.licenseARR
dcterms.abstractБелетић, Aнђело; Дудварски-Илић, Aлександра; Мајкић-Сингх, Нада; Радојковић, Драгица; Мирковић, Душко; Ђорђевић, Валентина; Љујић, Мила; Нагорни-Обрадовић, Људмила; Миленковић, Бранислава;
dc.citation.volume24
dc.citation.issue2
dc.citation.spage293
dc.citation.epage298
dc.citation.other24(2): 293-298
dc.citation.rankM21
dc.identifier.wos000337218300012
dc.identifier.doi10.11613/BM.2014.032
dc.identifier.pmid24969923
dc.identifier.scopus2-s2.0-84902174865
dc.identifier.fulltexthttp://farfar.pharmacy.bg.ac.rs//bitstream/id/929/2202.pdf
dc.identifier.rcubconv_3099
dc.type.versionpublishedVersion


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record