Dessensibilização à alglucosidase alfa em paciente com Doença de Pompe: relato de caso
Desensitization to alglucosidase alfa in a patient with Pompe disease: a case report
Gabriel Veloso Araujo-Neto; Maria Eduarda Zanetti; Laura Cardoso Brentini; Fabiane Leticia Lopes; Anne Marielle Camargo; Ana Leticia Romanini; Lais Matuda; Maria Tereza Stein; Natalia Dias Melo; Edine Coelho Pimentel; José Eduardo Lemos; Mariana Paes Leme Ferriani; Persio Roxo-Junior; Luisa Karla Arruda; Ullissis Pádua Menezes
Resumo
A Doença de Pompe (DP), ou glicogenose tipo II, é uma doença metabólica hereditária autossômica recessiva causada por variantes no gene GAA, que codifica a produção da enzima lisossomal alfa-glucosidase ácida (acidalpha-1,4-glucosidase). A terapia de reposição enzimática (TRE) com alfa glucosidase ácida é a forma de tratamento mais eficaz para a redução da morbidade e mortalidade desta doença. Reações de hipersensibilidade podem ocorrer durante a TRE, sendo necessária a dessensibilização a esta enzima. Relatamos aqui o caso de uma criança com DP que apresentou reação do tipo imediata à TRE e foi tratada com sucesso através de um protocolo de dessensibilização.
Palavras-chave
Abstract
Pompe disease (PD), also known as glycogen storage disease type II, is an autosomal recessive inherited metabolic disorder caused by variants in the GAA gene, which encodes the production of lysosomal enzyme acid alpha-1,4-glucosidase. Enzyme replacement therapy (ERT) with acid alpha-glucosidase is the most effective treatment for reducing disease-related morbidity and mortality. However, hypersensitivity reactions may occur during ERT, requiring desensitization to the enzyme. We report the case of a child with PD who developed an immediate-type hypersensitivity reaction to ERT and was successfully treated using a desensitization protocol.
Keywords
References
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Submitted date:
06/13/2025
Accepted date:
08/07/2025
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