Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil
| Autor: | José R Jardim, Francisco Casas-Maldonado, Frederico Leon Arrabal Fernandes, Maria Vera Cruz de O Castellano, María Torres-Durán, Marc Miravitlles |
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| Přispěvatelé: | Institut Català de la Salut, [Jardim JR] Centro de Reabilitação Pulmonar, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo (SP) Brasil. [Casas-Maldonado F] Departamento de Neumología, Hospital Universitario Clínico San Cecilio, Granada, España. [Fernandes FLA] Divisão de Pneumologia, Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo (SP) Brasil. [Castellano MVCO] Serviço de Pneumologia, Hospital do Servidor Público Estadual de São Paulo, São Paulo (SP) Brasil. [Torres-Durán M] Departamento de Neumología, Hospital Álvaro Cunqueiro, Vigo, España. Instituto de Investigación Sanitaria Galicia Sur – IISGS – Vigo, España. [Miravitlles M] Servei de Pneumologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. CIBER de Enfermedades Respiratorias – CIBERES – Barcelona, España, Vall d'Hebron Barcelona Hospital Campus |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Malalties rares - Brasil localizaciones geográficas::Américas::América del Sur::Brasil [DENOMINACIONES GEOGRÁFICAS] Buccal swab Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES] Review Article Deficiência de alfa 1-antitripsina/genética Genotyping techniques Diseases of the respiratory system Liver disease Amino Acids Peptides and Proteins::Peptides::Serpins::alpha 1-Antitrypsin [CHEMICALS AND DRUGS] alpha 1-Antitrypsin Deficiency alpha 1-antitrypsin deficiency/genetics alpha 1-antitrypsin deficiency/diagnosis medicine Alfa 1-antitripsina - Aspectes genètics Other subheadings::Other subheadings::/genetics [Other subheadings] Humans Intensive care medicine Genotyping Techniques Genotyping Deficiência de alfa 1-antitripsina/diagnóstico Disease burden fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS] aminoácidos péptidos y proteínas::péptidos::serpinas::alfa 1-antitripsina [COMPUESTOS QUÍMICOS Y DROGAS] Alpha 1-antitrypsin deficiency RC705-779 business.industry Otros calificadores::Otros calificadores::/genética [Otros calificadores] Genetic disorder medicine.disease Técnicas de genotipagem Dried blood spot Geographic Locations::Americas::South America::Brazil [GEOGRAPHICALS] alpha 1-Antitrypsin Mutation business Brazil |
| Zdroj: | Scientia Jornal Brasileiro de Pneumologia, Vol 47, Iss 3 (2021) Jornal Brasileiro de Pneumologia v.47 n.3 2021 Jornal Brasileiro de Pneumologia Sociedade Brasileira de Pneumologia e Tisiologia (SBPT) instacron:SBPT |
| Popis: | Tècniques de genotipat; Deficiència d'alfa-1 antitripsina Técnicas de genotipado; Deficiencia de alfa-1 antitripsina Genotyping techniques; alpha-1 antitrypsin deficiency Alpha-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. This study received financial support from Grifols S.A., Barcelona, Spain. |
| Databáze: | OpenAIRE |
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