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dc.contributor.authorJardim, J. R.
dc.contributor.authorCasas-Maldonado, F.
dc.contributor.authorFernandes, F. L. A.
dc.contributor.authorCastellano, M. V. C. O.
dc.contributor.authorTorres Durán, María Luisa 
dc.contributor.authorMiravitlles, M.
dc.date.accessioned2024-01-02T10:03:22Z
dc.date.available2024-01-02T10:03:22Z
dc.date.issued2021
dc.identifier.issn1806-3713
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/34076174es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/18478
dc.description.abstractAlpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by a mutation in the SERPINA1 gene, which encodes the protease inhibitor alpha-1 antitrypsin (AAT). Severe AATD predisposes individuals to COPD and liver disease. Early diagnosis is essential for implementing preventive measures and limiting the disease burden. Although national and international guidelines for the diagnosis and management of AATD have been available for 20 years, more than 85% of cases go undiagnosed and therefore untreated. In Brazil, reasons for the underdiagnosis of AATD include a lack of awareness of the condition among physicians, a racially diverse population, serum AAT levels being assessed in a limited number of individuals, and lack of convenient diagnostic tools. The diagnosis of AATD is based on laboratory test results. The standard diagnostic approach involves the assessment of serum AAT levels, followed by phenotyping, genotyping, gene sequencing, or combinations of those, to detect the specific mutation. Over the past 10 years, new techniques have been developed, offering a rapid, minimally invasive, reliable alternative to traditional testing methods. One such test available in Brazil is the A1AT Genotyping Test, which simultaneously analyzes the 14 most prevalent AATD mutations, using DNA extracted from a buccal swab or dried blood spot. Such advances may contribute to overcoming the problem of underdiagnosis in Brazil and elsewhere, as well as being likely to increase the rate detection of AATD and therefore mitigate the harmful effects of delayed diagnosis.
dc.language.isoen
dc.rightsAtribución-NoComercial 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/
dc.titleUpdate on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil
dc.typeJournal Articlees
dc.authorsophosJardim, J. R.;Casas-Maldonado, F.;Fernandes, F. L. A.;Castellano, M. V. C. O.;Torres-Duran, M.;Miravitlles, M.
dc.identifier.doi10.36416/1806-3756/e20200380
dc.identifier.pmid34076174
dc.identifier.sophos47635
dc.issue.number3
dc.journal.titleJornal Brasileiro de Pneumologia
dc.organizationServizo Galego de Saúde::Áreas Sanitarias (A.S.)::Área Sanitaria de Vigo - Complexo Hospitalario Universitario de Vigo::Neumoloxía
dc.page.initiale20200380
dc.rights.accessRightsopenAccess
dc.subject.keywordCHUVIes
dc.subject.keywordIISGS
dc.typefidesArtículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis)es
dc.typesophosArtículo de Revisiónes
dc.volume.number47


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Atribución-NoComercial 4.0 Internacional
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