Portuguese consensus document for the management of alpha-1-antitrypsin deficiency
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.16/2320 |
Resumo: | Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in reaching a diagnosis and in making therapeutic decisions in this group of patients. This raised a need to draft a document expressing a national consensus for AATD. To this end, a group of experts in this field was created within the Portuguese Pulmonology Society - Study group on AATD, in order to elaborate the current manuscript. The authors reviewed the existing literature and provide here general guidance and extensive recommendations for the diagnosis and management of AATD that can be adopted by Portuguese clinicians from different areas of Medicine. This article is part of a supplement entitled "Portuguese consensus document for the management of alpha-1-antitrypsin deficiency" which is sponsored by Sociedade Portuguesa de Pneumologia. |
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Portuguese consensus document for the management of alpha-1-antitrypsin deficiencyConsensusDiagnosisPulmonary EmphysemaTherapeuticsalpha 1-Antitrypsin DeficiencyAlpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in reaching a diagnosis and in making therapeutic decisions in this group of patients. This raised a need to draft a document expressing a national consensus for AATD. To this end, a group of experts in this field was created within the Portuguese Pulmonology Society - Study group on AATD, in order to elaborate the current manuscript. The authors reviewed the existing literature and provide here general guidance and extensive recommendations for the diagnosis and management of AATD that can be adopted by Portuguese clinicians from different areas of Medicine. This article is part of a supplement entitled "Portuguese consensus document for the management of alpha-1-antitrypsin deficiency" which is sponsored by Sociedade Portuguesa de Pneumologia.Sociedade Portuguesa de PneumologiaRepositório Científico do Centro Hospitalar Universitário de Santo AntónioLopes, A.Mineiro, M.Costa, F.Gomes, J.Santos, C.Antunes, C.Maia, D.Melo, R.Canotilho, M.Magalhães, E.Vicente, I.Valente, C.Gonçalves, B.Conde, B.Guimarães, C.Sousa, C.Amado, J.Brandão, M.Sucena, M.Oliveira, M.Seixas, S.Teixeira, V.Telo, L.2020-03-17T13:01:31Z2018-122018-12-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2320engLopes AP, Mineiro MA, Costa F, et al. Portuguese consensus document for the management of alpha-1-antitrypsin deficiency. Pulmonology. 2018;24 Suppl 1:1–21. doi:10.1016/j.pulmoe.2018.09.0042531-042910.1016/j.pulmoe.2018.09.0042531-0437info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-10-20T11:00:13Zoai:repositorio.chporto.pt:10400.16/2320Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:38:32.141506Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency |
title |
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency |
spellingShingle |
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency Lopes, A. Consensus Diagnosis Pulmonary Emphysema Therapeutics alpha 1-Antitrypsin Deficiency |
title_short |
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency |
title_full |
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency |
title_fullStr |
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency |
title_full_unstemmed |
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency |
title_sort |
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency |
author |
Lopes, A. |
author_facet |
Lopes, A. Mineiro, M. Costa, F. Gomes, J. Santos, C. Antunes, C. Maia, D. Melo, R. Canotilho, M. Magalhães, E. Vicente, I. Valente, C. Gonçalves, B. Conde, B. Guimarães, C. Sousa, C. Amado, J. Brandão, M. Sucena, M. Oliveira, M. Seixas, S. Teixeira, V. Telo, L. |
author_role |
author |
author2 |
Mineiro, M. Costa, F. Gomes, J. Santos, C. Antunes, C. Maia, D. Melo, R. Canotilho, M. Magalhães, E. Vicente, I. Valente, C. Gonçalves, B. Conde, B. Guimarães, C. Sousa, C. Amado, J. Brandão, M. Sucena, M. Oliveira, M. Seixas, S. Teixeira, V. Telo, L. |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Centro Hospitalar Universitário de Santo António |
dc.contributor.author.fl_str_mv |
Lopes, A. Mineiro, M. Costa, F. Gomes, J. Santos, C. Antunes, C. Maia, D. Melo, R. Canotilho, M. Magalhães, E. Vicente, I. Valente, C. Gonçalves, B. Conde, B. Guimarães, C. Sousa, C. Amado, J. Brandão, M. Sucena, M. Oliveira, M. Seixas, S. Teixeira, V. Telo, L. |
dc.subject.por.fl_str_mv |
Consensus Diagnosis Pulmonary Emphysema Therapeutics alpha 1-Antitrypsin Deficiency |
topic |
Consensus Diagnosis Pulmonary Emphysema Therapeutics alpha 1-Antitrypsin Deficiency |
description |
Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in reaching a diagnosis and in making therapeutic decisions in this group of patients. This raised a need to draft a document expressing a national consensus for AATD. To this end, a group of experts in this field was created within the Portuguese Pulmonology Society - Study group on AATD, in order to elaborate the current manuscript. The authors reviewed the existing literature and provide here general guidance and extensive recommendations for the diagnosis and management of AATD that can be adopted by Portuguese clinicians from different areas of Medicine. This article is part of a supplement entitled "Portuguese consensus document for the management of alpha-1-antitrypsin deficiency" which is sponsored by Sociedade Portuguesa de Pneumologia. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-12 2018-12-01T00:00:00Z 2020-03-17T13:01:31Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.16/2320 |
url |
http://hdl.handle.net/10400.16/2320 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Lopes AP, Mineiro MA, Costa F, et al. Portuguese consensus document for the management of alpha-1-antitrypsin deficiency. Pulmonology. 2018;24 Suppl 1:1–21. doi:10.1016/j.pulmoe.2018.09.004 2531-0429 10.1016/j.pulmoe.2018.09.004 2531-0437 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Sociedade Portuguesa de Pneumologia |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Pneumologia |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799133646382170113 |