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

• Autor(a) principal: Llerena Junior, Juan Clinton
• Data de Publicação: 2016
• Outros Autores: Nascimento, Osvaldo J. M., Oliveira, Acary Souza Bulle [UNIFESP], Dourado Junior, Mario Emilio T., Marrone, Carlo D., Siqueira, Heloise Helena, Sobreira, Claudia F. R., Dias-Tosta, Elza, Werneck, Lineu Cesar
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Institucional da UNIFESP
• dARK ID: ark:/48912/0013000014j5n
• DOI: 10.1590/0004-282X20150194
• Texto Completo: http://dx.doi.org/10.1590/0004-282X20150194; https://repositorio.unifesp.br/handle/11600/58006
• topic: Pompe disease; glycogen storage disease type II; acid alpha-glucosidase; muscular weakness; dyspnea; GAA gene; rhGAA

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.