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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2016; 74(02): 47-57
DOI: 10.1590/0004-282X20150194
VIEW AND REVIEW

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

Diretriz para o diagnóstico, tratamento e acompanhamento clínico de pacientes com doença de Pompe juvenil e do adulto
Juan Clinton Llerena Junior
1   Instituto Fernandes Figueira (FIOCRUZ), Departamento de Genética Médica, Rio de Janeiro RJ, Brazil;
,
Osvaldo JM Nascimento
2   Universidade Federal Fluminense, Departamento de Neurologia e NeuroUPC, Rio de Janeiro RJ, Brazil;
,
Acary Souza B Oliveira
3   Universidade Federal de São Paulo, Departamento de Neurologia, Sao Paulo SP, Brazil;
,
Mario Emilio T Dourado Junior
4   Universidade Federal do Rio Grande do Norte, Departamento de Neurologia, Caiaco RN, Brazil;
,
Carlo D Marrone
5   Clínica Marrone, Porto Alegre RS, Brazil;
,
Heloise Helena Siqueira
6   Universidade de Cuiabá, Departamento de Neurologia, Cuiaba MT, Brazil;
,
Cláudia F R Sobreira
7   Universidade de São Paulo, Departamento de Neurociências, Ribeirao Preto SP, Brazil;
,
Elza Dias-Tosta
8   Hospital de Base do Distrito Federal, Serviço de Neurologia, Brasilia DF, Brazil;
,
Lineu Cesar Werneck
9   Universidade Federal do Paraná, Serviço de Doenças Neuromusculares, Curitiba PR, Brazil.
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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.

RESUMO

A doença de Pompe (DP) é uma doença grave, potencialmente letal, devida ao depósito de glicogênio na fibra muscular e ativação de vias autofágicas. Tratamento promissor para a DP é a reposição enzimática com a enzima recombinante humana alfa-glicosidase ácida (rhAGA - Myozyme®). A necessidade de organizar uma propedêutica diagnóstica, sistematizar o seguimento clínico e sedimentar as novas recomendações terapêuticas tornaram-se vitais à medida que o tratamento permite uma maior longevidade aos pacientes. Uma força-tarefa de clínicos experientes no manejo da DP foi constituída para elaborar um protocolo para o diagnóstico, acompanhamento clínico, tratamento, aconselhamento genético, entre outras considerações voltadas ao paciente adulto. O estudo foi realizado sob a coordenação da Rede Brasileira de Estudos da Doença de Pompe (REBREPOM). Diante da raridade da DP e escassez de trabalhos de alto impacto de evidência científica, os especialistas emitiram suas opiniões.

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


Publication History

Article published online:
06 September 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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