Deficiência de alfa-1 antitripsina: diagnóstico e tratamento
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://dx.doi.org/10.1590/S1806-37132008000700012 http://repositorio.unifesp.br/handle/11600/4464 |
Resumo: | Alpha-1 antitrypsin deficiency is a recently identified genetic disease that occurs almost as frequently as cystic fibrosis. It is caused by various mutations in the SERPINA1 gene, and has numerous clinical implications. Alpha-1 antitrypsin is mainly produced in the liver and acts as an antiprotease. Its principal function is to inactivate neutrophil elastase, preventing tissue damage. The mutation most commonly associated with the clinical disease is the Z allele, which causes polymerization and accumulation within hepatocytes. The accumulation of and the consequent reduction in the serum levels of alpha-1 antitrypsin cause, respectively, liver and lung disease, the latter occurring mainly as early emphysema, predominantly in the lung bases. Diagnosis involves detection of low serum levels of alpha-1 antitrypsin as well as phenotypic confirmation. In addition to the standard treatment of chronic obstructive pulmonary disease, specific therapy consisting of infusion of purified alpha-1 antitrypsin is currently available. The clinical efficacy of this therapy, which appears to be safe, has yet to be definitively established, and its cost-effectiveness is also a controversial issue that is rarely addressed. Despite its importance, in Brazil, there are no epidemiological data on the prevalence of the disease or the frequency of occurrence of deficiency alleles. Underdiagnosis has also been a significant limitation to the study of the disease as well as to appropriate treatment of patients. It is hoped that the creation of the Alpha One International Registry will resolve these and other important issues. |
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Deficiência de alfa-1 antitripsina: diagnóstico e tratamentoAlpha-1 antitrypsin deficiency: diagnosis and treatmentalpha 1-antitrypsin; EmphysemaPulmonary disease, chronic obstructivealfa 1-antitripsina, EnfisemaDoença pulmonar obstrutiva crônicaAlpha-1 antitrypsin deficiency is a recently identified genetic disease that occurs almost as frequently as cystic fibrosis. It is caused by various mutations in the SERPINA1 gene, and has numerous clinical implications. Alpha-1 antitrypsin is mainly produced in the liver and acts as an antiprotease. Its principal function is to inactivate neutrophil elastase, preventing tissue damage. The mutation most commonly associated with the clinical disease is the Z allele, which causes polymerization and accumulation within hepatocytes. The accumulation of and the consequent reduction in the serum levels of alpha-1 antitrypsin cause, respectively, liver and lung disease, the latter occurring mainly as early emphysema, predominantly in the lung bases. Diagnosis involves detection of low serum levels of alpha-1 antitrypsin as well as phenotypic confirmation. In addition to the standard treatment of chronic obstructive pulmonary disease, specific therapy consisting of infusion of purified alpha-1 antitrypsin is currently available. The clinical efficacy of this therapy, which appears to be safe, has yet to be definitively established, and its cost-effectiveness is also a controversial issue that is rarely addressed. Despite its importance, in Brazil, there are no epidemiological data on the prevalence of the disease or the frequency of occurrence of deficiency alleles. Underdiagnosis has also been a significant limitation to the study of the disease as well as to appropriate treatment of patients. It is hoped that the creation of the Alpha One International Registry will resolve these and other important issues.A deficiência de alfa-1 antitripsina é um distúrbio genético de descoberta recente e que ocorre com freqüência comparável à da fibrose cística. Resulta de diferentes mutações no gene SERPINA1 e tem diversas implicações clínicas. A alfa-1 antitripsina é produzida principalmente no fígado e atua como uma antiprotease. Tem como principal função inativar a elastase neutrofílica, impedindo a ocorrência de dano tecidual. A mutação mais freqüentemente relacionada à doença clínica é o alelo Z, que determina polimerização e acúmulo dentro dos hepatócitos. O acúmulo e a conseqüente redução dos níveis séricos de alfa-1 antitripsina determinam, respectivamente, doença hepática e pulmonar, sendo que esta se manifesta principalmente sob a forma de enfisema de aparecimento precoce, habitualmente com predomínio basal. O diagnóstico envolve a detecção de níveis séricos reduzidos de alfa-1 antitripsina e a confirmação fenotípica. Além do tratamento usual para doença pulmonar obstrutiva crônica, existe atualmente uma terapia específica com infusão de concentrados de alfa-1 antitripsina. Essa terapia de reposição, aparentemente segura, ainda não teve a eficácia clínica definitivamente comprovada, e o custo-efetividade também é um tema controverso e ainda pouco abordado. Apesar da sua importância, não existem dados epidemiológicos brasileiros a respeito da prevalência da doença ou da freqüência de ocorrência dos alelos deficientes. O subdiagnóstico também tem sido uma importante limitação tanto para o estudo da doença quanto para o tratamento adequado dos pacientes. Espera-se que a criação do Registro Internacional de Alfa-1 venha a resolver essas e outras importantes questões.Universidade Federal da Bahia Hospital Universitário Professor Edgard Santos Departamento de PneumologiaUniversidade de São Paulo Faculdade de Medicina Hospital das ClínicasUniversidade Federal de São Paulo (UNIFESP)Universidade Federal de São Paulo (UNIFESP) Faculdade de MedicinaInstitut d'Investigacions Biomèdiques August Pi i Sunyer Hospital Clinic Institut Clinic del ToraxUNIFESP, Faculdade de MedicinaSciELOSociedade Brasileira de Pneumologia e TisiologiaUniversidade Federal da Bahia Hospital Universitário Professor Edgard Santos Departamento de PneumologiaUniversidade de São Paulo (USP)Universidade Federal de São Paulo (UNIFESP)Institut d'Investigacions Biomèdiques August Pi i Sunyer Hospital Clinic Institut Clinic del ToraxCamelier, Aquiles Assunção [UNIFESP]Winter, Daniel HugoJardim, José Roberto [UNIFESP]Barboza, Carlos Eduardo GalvãoCukier, AlbertoMiravitlles, Marc2015-06-14T13:38:38Z2015-06-14T13:38:38Z2008-07-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion514-527application/pdfhttp://dx.doi.org/10.1590/S1806-37132008000700012Jornal Brasileiro de Pneumologia. Sociedade Brasileira de Pneumologia e Tisiologia, v. 34, n. 7, p. 514-527, 2008.10.1590/S1806-37132008000700012S1806-37132008000700012.pdf1806-3713S1806-37132008000700012http://repositorio.unifesp.br/handle/11600/4464porJornal Brasileiro de Pneumologiainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-08-06T09:37:02Zoai:repositorio.unifesp.br/:11600/4464Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-08-06T09:37:02Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.none.fl_str_mv |
Deficiência de alfa-1 antitripsina: diagnóstico e tratamento Alpha-1 antitrypsin deficiency: diagnosis and treatment |
title |
Deficiência de alfa-1 antitripsina: diagnóstico e tratamento |
spellingShingle |
Deficiência de alfa-1 antitripsina: diagnóstico e tratamento Camelier, Aquiles Assunção [UNIFESP] alpha 1-antitrypsin; Emphysema Pulmonary disease, chronic obstructive alfa 1-antitripsina, Enfisema Doença pulmonar obstrutiva crônica |
title_short |
Deficiência de alfa-1 antitripsina: diagnóstico e tratamento |
title_full |
Deficiência de alfa-1 antitripsina: diagnóstico e tratamento |
title_fullStr |
Deficiência de alfa-1 antitripsina: diagnóstico e tratamento |
title_full_unstemmed |
Deficiência de alfa-1 antitripsina: diagnóstico e tratamento |
title_sort |
Deficiência de alfa-1 antitripsina: diagnóstico e tratamento |
author |
Camelier, Aquiles Assunção [UNIFESP] |
author_facet |
Camelier, Aquiles Assunção [UNIFESP] Winter, Daniel Hugo Jardim, José Roberto [UNIFESP] Barboza, Carlos Eduardo Galvão Cukier, Alberto Miravitlles, Marc |
author_role |
author |
author2 |
Winter, Daniel Hugo Jardim, José Roberto [UNIFESP] Barboza, Carlos Eduardo Galvão Cukier, Alberto Miravitlles, Marc |
author2_role |
author author author author author |
dc.contributor.none.fl_str_mv |
Universidade Federal da Bahia Hospital Universitário Professor Edgard Santos Departamento de Pneumologia Universidade de São Paulo (USP) Universidade Federal de São Paulo (UNIFESP) Institut d'Investigacions Biomèdiques August Pi i Sunyer Hospital Clinic Institut Clinic del Torax |
dc.contributor.author.fl_str_mv |
Camelier, Aquiles Assunção [UNIFESP] Winter, Daniel Hugo Jardim, José Roberto [UNIFESP] Barboza, Carlos Eduardo Galvão Cukier, Alberto Miravitlles, Marc |
dc.subject.por.fl_str_mv |
alpha 1-antitrypsin; Emphysema Pulmonary disease, chronic obstructive alfa 1-antitripsina, Enfisema Doença pulmonar obstrutiva crônica |
topic |
alpha 1-antitrypsin; Emphysema Pulmonary disease, chronic obstructive alfa 1-antitripsina, Enfisema Doença pulmonar obstrutiva crônica |
description |
Alpha-1 antitrypsin deficiency is a recently identified genetic disease that occurs almost as frequently as cystic fibrosis. It is caused by various mutations in the SERPINA1 gene, and has numerous clinical implications. Alpha-1 antitrypsin is mainly produced in the liver and acts as an antiprotease. Its principal function is to inactivate neutrophil elastase, preventing tissue damage. The mutation most commonly associated with the clinical disease is the Z allele, which causes polymerization and accumulation within hepatocytes. The accumulation of and the consequent reduction in the serum levels of alpha-1 antitrypsin cause, respectively, liver and lung disease, the latter occurring mainly as early emphysema, predominantly in the lung bases. Diagnosis involves detection of low serum levels of alpha-1 antitrypsin as well as phenotypic confirmation. In addition to the standard treatment of chronic obstructive pulmonary disease, specific therapy consisting of infusion of purified alpha-1 antitrypsin is currently available. The clinical efficacy of this therapy, which appears to be safe, has yet to be definitively established, and its cost-effectiveness is also a controversial issue that is rarely addressed. Despite its importance, in Brazil, there are no epidemiological data on the prevalence of the disease or the frequency of occurrence of deficiency alleles. Underdiagnosis has also been a significant limitation to the study of the disease as well as to appropriate treatment of patients. It is hoped that the creation of the Alpha One International Registry will resolve these and other important issues. |
publishDate |
2008 |
dc.date.none.fl_str_mv |
2008-07-01 2015-06-14T13:38:38Z 2015-06-14T13:38:38Z |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1590/S1806-37132008000700012 Jornal Brasileiro de Pneumologia. Sociedade Brasileira de Pneumologia e Tisiologia, v. 34, n. 7, p. 514-527, 2008. 10.1590/S1806-37132008000700012 S1806-37132008000700012.pdf 1806-3713 S1806-37132008000700012 http://repositorio.unifesp.br/handle/11600/4464 |
url |
http://dx.doi.org/10.1590/S1806-37132008000700012 http://repositorio.unifesp.br/handle/11600/4464 |
identifier_str_mv |
Jornal Brasileiro de Pneumologia. Sociedade Brasileira de Pneumologia e Tisiologia, v. 34, n. 7, p. 514-527, 2008. 10.1590/S1806-37132008000700012 S1806-37132008000700012.pdf 1806-3713 S1806-37132008000700012 |
dc.language.iso.fl_str_mv |
por |
language |
por |
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Jornal Brasileiro de Pneumologia |
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info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
514-527 application/pdf |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Pneumologia e Tisiologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Pneumologia e Tisiologia |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
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UNIFESP |
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UNIFESP |
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Repositório Institucional da UNIFESP |
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Repositório Institucional da UNIFESP |
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Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
biblioteca.csp@unifesp.br |
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1814268355546185728 |