Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Detalhes bibliográficos
Autor(a) principal: Llerena Junior,Juan Clinton
Data de Publicação: 2016
Outros Autores: 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
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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spelling 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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