Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos de neuro-psiquiatria (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000200016 |
Resumo: | ABSTRACT Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views. |
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Arquivos de neuro-psiquiatria (Online) |
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Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe diseasePompe diseaseglycogen storage disease type IIacid alpha-glucosidasemuscular weaknessdyspneaGAA generhGAAABSTRACT Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.Academia Brasileira de Neurologia - ABNEURO2016-02-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000200016Arquivos de Neuro-Psiquiatria v.74 n.2 2016reponame:Arquivos de neuro-psiquiatria (Online)instname:Academia Brasileira de Neurologiainstacron:ABNEURO10.1590/0004-282X20150194info:eu-repo/semantics/openAccessLlerena Junior,Juan ClintonNascimento,Osvaldo JM.Oliveira,Acary Souza B.Dourado Junior,Mario Emilio T.Marrone,Carlo D.Siqueira,Heloise HelenaSobreira,Cláudia F. R.Dias-Tosta,ElzaWerneck,Lineu Cesareng2016-03-11T00:00:00Zoai:scielo:S0004-282X2016000200016Revistahttp://www.scielo.br/anphttps://old.scielo.br/oai/scielo-oai.php||revista.arquivos@abneuro.org1678-42270004-282Xopendoar:2016-03-11T00:00Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologiafalse |
dc.title.none.fl_str_mv |
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease |
title |
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease |
spellingShingle |
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease Llerena Junior,Juan Clinton Pompe disease glycogen storage disease type II acid alpha-glucosidase muscular weakness dyspnea GAA gene rhGAA |
title_short |
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease |
title_full |
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease |
title_fullStr |
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease |
title_full_unstemmed |
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease |
title_sort |
Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease |
author |
Llerena Junior,Juan Clinton |
author_facet |
Llerena Junior,Juan Clinton Nascimento,Osvaldo JM. Oliveira,Acary Souza B. Dourado Junior,Mario Emilio T. Marrone,Carlo D. Siqueira,Heloise Helena Sobreira,Cláudia F. R. Dias-Tosta,Elza Werneck,Lineu Cesar |
author_role |
author |
author2 |
Nascimento,Osvaldo JM. Oliveira,Acary Souza B. Dourado Junior,Mario Emilio T. Marrone,Carlo D. Siqueira,Heloise Helena Sobreira,Cláudia F. R. Dias-Tosta,Elza Werneck,Lineu Cesar |
author2_role |
author author author author author author author author |
dc.contributor.author.fl_str_mv |
Llerena Junior,Juan Clinton Nascimento,Osvaldo JM. Oliveira,Acary Souza B. Dourado Junior,Mario Emilio T. Marrone,Carlo D. Siqueira,Heloise Helena Sobreira,Cláudia F. R. Dias-Tosta,Elza Werneck,Lineu Cesar |
dc.subject.por.fl_str_mv |
Pompe disease glycogen storage disease type II acid alpha-glucosidase muscular weakness dyspnea GAA gene rhGAA |
topic |
Pompe disease glycogen storage disease type II acid alpha-glucosidase muscular weakness dyspnea GAA gene rhGAA |
description |
ABSTRACT Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-02-01 |
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=S0004-282X2016000200016 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2016000200016 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/0004-282X20150194 |
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 |
Academia Brasileira de Neurologia - ABNEURO |
publisher.none.fl_str_mv |
Academia Brasileira de Neurologia - ABNEURO |
dc.source.none.fl_str_mv |
Arquivos de Neuro-Psiquiatria v.74 n.2 2016 reponame:Arquivos de neuro-psiquiatria (Online) instname:Academia Brasileira de Neurologia instacron:ABNEURO |
instname_str |
Academia Brasileira de Neurologia |
instacron_str |
ABNEURO |
institution |
ABNEURO |
reponame_str |
Arquivos de neuro-psiquiatria (Online) |
collection |
Arquivos de neuro-psiquiatria (Online) |
repository.name.fl_str_mv |
Arquivos de neuro-psiquiatria (Online) - Academia Brasileira de Neurologia |
repository.mail.fl_str_mv |
||revista.arquivos@abneuro.org |
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