Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400001 |
Resumo: | Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions. |
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Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatmentmucopolisaccharidosesHurler syndromeHunter syndromeMaroteaux-Lamy syndromeenzyme replacement therapytreatment guidelinesMucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.Sociedade Brasileira de Genética2010-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400001Genetics and Molecular Biology v.33 n.4 2010reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572010005000093info:eu-repo/semantics/openAccessGiugliani,RobertoFederhen,AndressaMuñoz Rojas,Maria VerônicaVieira,TaianeArtigalás,OsvaldoLapagesse Pinto,LouiseAzevedo,Ana CecíliaAcosta,AngelinaBonfim,CarmenLourenço,Charles MarquesChong Ae,KimHorovitz,DafneBonfim,DenizeNorato,DeniseMarinho,DianePalhares,DurvalSantos,Emerson SantanaRibeiro,ErlaneValadares,EugêniaGuarany,FábioLucca,Gisele Rosone dePimentel,HelenaSouza,Isabel Neves deCorrea Neto,JordãoFraga,José CarlosGoes,José EduardoCabral,José MariaSimionato,JoséLlerena Jr.,JuanJardim,LauraGiuliani,LianeSilva,Luiz Carlos Santana daSantos,Mara L.Moreira,Maria AngelaKerstenetzky,MarceloRibeiro,MárciaRuas,NicoleBarrios,PatriciaAranda,PauloHonjo,RachelBoy,RaquelCosta,RonaldoSouza,CarolinaAlcantara,Flavio F.Avilla,Silvio Gilberto A.Fagondes,SimoneMartins,Ana Mariaeng2011-01-06T00:00:00Zoai:scielo:S1415-47572010000400001Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2011-01-06T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
title |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
spellingShingle |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment Giugliani,Roberto mucopolisaccharidoses Hurler syndrome Hunter syndrome Maroteaux-Lamy syndrome enzyme replacement therapy treatment guidelines |
title_short |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
title_full |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
title_fullStr |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
title_full_unstemmed |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
title_sort |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
author |
Giugliani,Roberto |
author_facet |
Giugliani,Roberto Federhen,Andressa Muñoz Rojas,Maria Verônica Vieira,Taiane Artigalás,Osvaldo Lapagesse Pinto,Louise Azevedo,Ana Cecília Acosta,Angelina Bonfim,Carmen Lourenço,Charles Marques Chong Ae,Kim Horovitz,Dafne Bonfim,Denize Norato,Denise Marinho,Diane Palhares,Durval Santos,Emerson Santana Ribeiro,Erlane Valadares,Eugênia Guarany,Fábio Lucca,Gisele Rosone de Pimentel,Helena Souza,Isabel Neves de Correa Neto,Jordão Fraga,José Carlos Goes,José Eduardo Cabral,José Maria Simionato,José Llerena Jr.,Juan Jardim,Laura Giuliani,Liane Silva,Luiz Carlos Santana da Santos,Mara L. Moreira,Maria Angela Kerstenetzky,Marcelo Ribeiro,Márcia Ruas,Nicole Barrios,Patricia Aranda,Paulo Honjo,Rachel Boy,Raquel Costa,Ronaldo Souza,Carolina Alcantara,Flavio F. Avilla,Silvio Gilberto A. Fagondes,Simone Martins,Ana Maria |
author_role |
author |
author2 |
Federhen,Andressa Muñoz Rojas,Maria Verônica Vieira,Taiane Artigalás,Osvaldo Lapagesse Pinto,Louise Azevedo,Ana Cecília Acosta,Angelina Bonfim,Carmen Lourenço,Charles Marques Chong Ae,Kim Horovitz,Dafne Bonfim,Denize Norato,Denise Marinho,Diane Palhares,Durval Santos,Emerson Santana Ribeiro,Erlane Valadares,Eugênia Guarany,Fábio Lucca,Gisele Rosone de Pimentel,Helena Souza,Isabel Neves de Correa Neto,Jordão Fraga,José Carlos Goes,José Eduardo Cabral,José Maria Simionato,José Llerena Jr.,Juan Jardim,Laura Giuliani,Liane Silva,Luiz Carlos Santana da Santos,Mara L. Moreira,Maria Angela Kerstenetzky,Marcelo Ribeiro,Márcia Ruas,Nicole Barrios,Patricia Aranda,Paulo Honjo,Rachel Boy,Raquel Costa,Ronaldo Souza,Carolina Alcantara,Flavio F. Avilla,Silvio Gilberto A. Fagondes,Simone Martins,Ana Maria |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Giugliani,Roberto Federhen,Andressa Muñoz Rojas,Maria Verônica Vieira,Taiane Artigalás,Osvaldo Lapagesse Pinto,Louise Azevedo,Ana Cecília Acosta,Angelina Bonfim,Carmen Lourenço,Charles Marques Chong Ae,Kim Horovitz,Dafne Bonfim,Denize Norato,Denise Marinho,Diane Palhares,Durval Santos,Emerson Santana Ribeiro,Erlane Valadares,Eugênia Guarany,Fábio Lucca,Gisele Rosone de Pimentel,Helena Souza,Isabel Neves de Correa Neto,Jordão Fraga,José Carlos Goes,José Eduardo Cabral,José Maria Simionato,José Llerena Jr.,Juan Jardim,Laura Giuliani,Liane Silva,Luiz Carlos Santana da Santos,Mara L. Moreira,Maria Angela Kerstenetzky,Marcelo Ribeiro,Márcia Ruas,Nicole Barrios,Patricia Aranda,Paulo Honjo,Rachel Boy,Raquel Costa,Ronaldo Souza,Carolina Alcantara,Flavio F. Avilla,Silvio Gilberto A. Fagondes,Simone Martins,Ana Maria |
dc.subject.por.fl_str_mv |
mucopolisaccharidoses Hurler syndrome Hunter syndrome Maroteaux-Lamy syndrome enzyme replacement therapy treatment guidelines |
topic |
mucopolisaccharidoses Hurler syndrome Hunter syndrome Maroteaux-Lamy syndrome enzyme replacement therapy treatment guidelines |
description |
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-01-01 |
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://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400001 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400001 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1415-47572010005000093 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.33 n.4 2010 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
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Sociedade Brasileira de Genética (SBG) |
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SBG |
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SBG |
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Genetics and Molecular Biology |
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Genetics and Molecular Biology |
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Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122383336996864 |