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Advisor(s)
Abstract(s)
Introdução: A Hipertermia Maligna (HM) é uma doença farmacogenética rara com transmissão autossómica dominante. Afecta indivíduos geneticamente susceptíveis em resposta à exposição a anestésicos inalatórios e relaxantes musculares despolarizantes. Estima-se que a incidência varie entre 1:5000 – 1:50000 anestesias; em Portugal estes dados são desconhecidos. A prevalência das anomalias genéticas associadas à HM é de 1:400 indivíduos. Na maioria dos casos, a síndrome resulta de um defeito genético no gene que codifica o receptor de rianodina do músculo esquelético (RyR1). A exposição a agentes desencadeantes resulta numa hiperativação do RyR1 com libertação sustentada do Ca2+ para o mioplasma da fibra muscular que conduz a contração muscular e a uma resposta hipermetabólica sistémica. O método padrão de diagnóstico de susceptibilidade à HM é o teste de contratura muscular com halotano e cafeína. O único agente terapêutico efectivo é o dantroleno sódico; a sua introdução na prática clínica melhorou significativamente o prognóstico.
Objectivos: 1. Elaborar uma revisão da literatura científica actualizada 2. Apresentação de uma proposta de criação de um Grupo de Hipertermia Maligna da Beira Interior.
Metodologia: De forma a concretizar os objectivos definidos foi elaborada uma revisão alargada de literatura médica através de pesquisa bibliográfica nas bases de dados científicas internacionais PubMed, MedScape, LILACS, Medline, Uptodate, Orphanet, OMIM e NORD. Os critérios estabelecidos limitaram a pesquisa a artigos publicados em português, inglês, espanhol e francês, sem restrição temporal da data de publicação. Como descritores foram utilizados os termos, em inglês ou seu equivalente em português, ”Malignant Hyperthermia”, “Malignant Hyperpyrexia”,” Malignant Hyperthermia Susceptibility”,” Malignant Hyperthermia diagnosis”,” Malignant Hyperthermia treatment”, “Malignant Hyperthermia pathophysiology”, “Dantrolene” e “Ryanodine Receptors”.
Conclusão: Embora rara, esta condição não deve ser menosprezada, pois apesar de potencialmente fatal, o tratamento efectivo tem implicações profundas sobre o prognóstico. Em Portugal, embora exista um protocolo de actuação desenvolvido pelo grupo português de Hipertermia Maligna, não existe nenhuma entidade que controle a sua implementação articulada a nível nacional ou regional; além disso, não existem, também não existem normas de armazenamento e distribuição de dantroleno para as diversas unidades hospitalares onde existem serviços de anestesia. A proposta apresentada visa dar resposta a estas questões.
Introduction: Malignant Hyperthermia (HM) is a rare pharmacogenetic disease with autosomal dominant transmission. It affects genetically susceptible individuals in response to the exposure of inhalational anesthetics and depolarizing muscle relaxants. It is estimated that the incidence ranges from 1: 5000 to 1: 50000 anesthetics; in Portugal these data are unknown. The prevalence of genetic abnormalities associated with HM is 1: 400 individuals. In most cases, the syndrome results from a genetic defect in the gene, which encodes the rianodine receptor of the skeletal muscle (RyR1). The exposure to triggering agents results in a hyperactivation of RyR1 with sustained release of Ca2+ to the myoplasm of the muscle fiber which leads to the muscle contraction and a systemic hypermetabolic response. The standard method of HM susceptibility diagnosis is the muscle contraction test with halothane and caffeine. The only effective therapeutic agent is the dantrolene sodium; its introduction into clinical practice has significantly improved the prognosis. Goals: 1. To prepare a review of the updated scientific literature. 2. To present a proposal to create a Malignant Hyperthermia Group in Beira Interior. Methodology: A wide review of the medical literature was done through bibliographic research in the international scientific databases PubMed, MedScape, LILACS, Medline, Uptodate, Orphanet, OMIM and NORD in order to achieve the defined objectives. The established criteria limited the research to articles that were published in Portuguese, English, Spanish and French, without temporal restriction of the date of publication. Terms in English or their equivalent in Portuguese were used as descriptors: ”Malignant Hyperthermia”, “Malignant Hyperpyrexia”,” Malignant Hyperthermia Susceptibility”,” Malignant Hyperthermia diagnosis”,” Malignant Hyperthermia treatment”, “Malignant Hyperthermia pathophysiology”, “Dantrolene” and “Ryanodine Receptors”. Conclusion: Although it is rare and potentially fatal, this condition should not be overlooked, because its effective treatment has a deep impact on the prognosis. In Portugal there is an action protocol, which was developed by the Portuguese group of Malignant Hyperthermia; however, there is no entity that controls its articulated implementation at national or regional level. In addition, there is no regulation for the storage or distribution of dantrolene to the several hospital units where anesthesia services are. The purpose of this proposal is to answer these questions.
Introduction: Malignant Hyperthermia (HM) is a rare pharmacogenetic disease with autosomal dominant transmission. It affects genetically susceptible individuals in response to the exposure of inhalational anesthetics and depolarizing muscle relaxants. It is estimated that the incidence ranges from 1: 5000 to 1: 50000 anesthetics; in Portugal these data are unknown. The prevalence of genetic abnormalities associated with HM is 1: 400 individuals. In most cases, the syndrome results from a genetic defect in the gene, which encodes the rianodine receptor of the skeletal muscle (RyR1). The exposure to triggering agents results in a hyperactivation of RyR1 with sustained release of Ca2+ to the myoplasm of the muscle fiber which leads to the muscle contraction and a systemic hypermetabolic response. The standard method of HM susceptibility diagnosis is the muscle contraction test with halothane and caffeine. The only effective therapeutic agent is the dantrolene sodium; its introduction into clinical practice has significantly improved the prognosis. Goals: 1. To prepare a review of the updated scientific literature. 2. To present a proposal to create a Malignant Hyperthermia Group in Beira Interior. Methodology: A wide review of the medical literature was done through bibliographic research in the international scientific databases PubMed, MedScape, LILACS, Medline, Uptodate, Orphanet, OMIM and NORD in order to achieve the defined objectives. The established criteria limited the research to articles that were published in Portuguese, English, Spanish and French, without temporal restriction of the date of publication. Terms in English or their equivalent in Portuguese were used as descriptors: ”Malignant Hyperthermia”, “Malignant Hyperpyrexia”,” Malignant Hyperthermia Susceptibility”,” Malignant Hyperthermia diagnosis”,” Malignant Hyperthermia treatment”, “Malignant Hyperthermia pathophysiology”, “Dantrolene” and “Ryanodine Receptors”. Conclusion: Although it is rare and potentially fatal, this condition should not be overlooked, because its effective treatment has a deep impact on the prognosis. In Portugal there is an action protocol, which was developed by the Portuguese group of Malignant Hyperthermia; however, there is no entity that controls its articulated implementation at national or regional level. In addition, there is no regulation for the storage or distribution of dantrolene to the several hospital units where anesthesia services are. The purpose of this proposal is to answer these questions.
Description
Keywords
Diagnóstico Fisiopatologia Hipertermia Maligna Susceptibilidade à Hipertermia Maligna Tratamento