Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment

Detalhes bibliográficos
Autor(a) principal: Giugliani,Roberto
Data de Publicação: 2010
Outros Autores: 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
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.
id SBG-1_ea70999b182cd6361b4ee939ad1f8d19
oai_identifier_str oai:scielo:S1415-47572010000400001
network_acronym_str SBG-1
network_name_str Genetics and Molecular Biology
repository_id_str
spelling 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
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
_version_ 1752122383336996864