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

Arquivos de Neuro-Psiquiatria

Juan Clinton Llerena Junior¹  Osvaldo Jm Nascimento¹  Acary Souza B Oliveira¹  Mario Emilio T Dourado Junior¹  Carlo D Marrone¹  Heloise Helena Siqueira¹  Cláudia F R Sobreira¹  Elza Dias-tosta¹  Lineu Cesar Werneck¹ 

关键词: Pompe disease;    glycogen storage disease type II;    acid alpha-glucosidase;    muscular weakness;    dyspnea;    GAA gene;    rhGAA;    doença de Pompe;    doença de depósito de glicogênio tipo II;    alfa-glicosidade ácida;    debilidade muscular;    dispneia;    gene GAA;    GAA recombinante humana;   

DOI  :  10.1590/0004-282X20150194

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
 All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License