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

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

Author Llerena Junior, Juan Clinton Google Scholar
Nascimento, Osvaldo J. M. Google Scholar
Oliveira, Acary Souza B. Autor UNIFESP Google Scholar
Dourado Junior, Mario Emilio T. Google Scholar
Marrone, Carlo D. Google Scholar
Siqueira, Heloise Helena Google Scholar
Sobreira, Claudia F. R. Google Scholar
Dias-Tosta, Elza Google Scholar
Werneck, Lineu Cesar Google Scholar
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 (R)). 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 Sao 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.
Keywords Pompe disease
glycogen storage disease type II
acid alpha-glucosidase
muscular weakness
dyspnea
GAA gene
rhGAA
xmlui.dri2xhtml.METS-1.0.item-coverage Sao Paulo Sp
Language English
Date 2016
Published in Arquivos De Neuro-Psiquiatria. Sao Paulo Sp, v. 74, n. 2, p. 166-176, 2016.
ISSN 0004-282X (Sherpa/Romeo, impact factor)
Publisher Assoc Arquivos Neuro- Psiquiatria
Extent 166-176
Origin http://dx.doi.org/10.1590/0004-282X20150194
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000372286900017
SciELO ID S0004-282X2016000200016 (statistics in SciELO)
URI https://repositorio.unifesp.br/handle/11600/58006

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