Deficiência de alfa-1 antitripsina: diagnóstico e tratamento

Detalhes bibliográficos
Autor(a) principal: Camelier, Aquiles Assunção [UNIFESP]
Data de Publicação: 2008
Outros Autores: Winter, Daniel Hugo, Jardim, José Roberto [UNIFESP], Barboza, Carlos Eduardo Galvão, Cukier, Alberto, Miravitlles, Marc
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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spelling 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
dc.relation.none.fl_str_mv Jornal Brasileiro de Pneumologia
dc.rights.driver.fl_str_mv 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)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
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