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Transplantação de células hematopoiéticas progenitoras na drepanocitose
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Resumo(s)
A Drepanocitose é uma hemoglobinopatia com um grau de apresentação clínica muito variado. Contudo, na maioria dos casos, mesmo apresentando fenótipos mais frustes, evolui inevitavelmente para lesão de órgão, muitas vezes com comportamento silencioso (caso paradigmático dos enfartes cerebrais silenciosos), que mais tarde irá ter repercussões importantes, nomeadamente neurocognitivas mas não só, afetando vários aspetos da vida social e de relação com a consequente diminuição da qualidade de vida. Por outro lado, quando mais sintomática, essa diminuição da qualidade de vida é ainda mais evidente, ocorrendo crises dolorosas e internamentos de repetição. Até há uns anos, além de medidas preventivas, transfusões de sangue e terapêutica com hidroxiureia, não havia alternativas, tornando a Drepanocitose uma doença crónica com uma esperança média de vida na ordem dos 40 anos. Atualmente, o único tratamento curativo disponível é a transplantação de células hematopoiéticas progenitoras. No entanto, este tratamento é condicionado por imensas variáveis que têm de ser tomadas em linha de conta, desde a seleção de doentes, dadores, técnica, regimes terapêuticos até à atitude de pais e doentes em relação a este assunto. Procura-se dar uma perspetiva geral do enquadramento destas variáveis, estado atual da situação e possíveis evoluções futuras de uma forma simples e compreensível.
Sickle-cell disease is a hemoglobinopathy with a degree of very varied clinical presentation. However, in most cases, even with less severe phenotypes evolves inevitably to organ damage, often with silent behavior (paradigmatic case of silent cerebral infarcts), which will later have important consequences, including neurocognitive, but not only, affecting many aspects of social life and relationship with the consequent decrease in quality of life. On the other hand, when more symptomatic, this reduction in quality of life is even more evident, ocuring painful crises and recurrent hospitalizations. Until a few years ago, in addition to preventive measures, blood transfusions and therapy with hydroxyurea, there were no alternatives, making the Sickle-cell disease a chronic disease with an average life expectancy of around 40 years. Currently, the only curative treatment available is the hematopoietic stem cell transplantation. However this treatment is conditioned by immense variables that have to be taken into account from the selection of patients, donors, technical, therapeutic regimes, to the attitude of parents and patients regarding this matter. This review pretend to give an overview of the framework of these variables, the current state of the situation and possible future developments in a simple and understandable way.
Sickle-cell disease is a hemoglobinopathy with a degree of very varied clinical presentation. However, in most cases, even with less severe phenotypes evolves inevitably to organ damage, often with silent behavior (paradigmatic case of silent cerebral infarcts), which will later have important consequences, including neurocognitive, but not only, affecting many aspects of social life and relationship with the consequent decrease in quality of life. On the other hand, when more symptomatic, this reduction in quality of life is even more evident, ocuring painful crises and recurrent hospitalizations. Until a few years ago, in addition to preventive measures, blood transfusions and therapy with hydroxyurea, there were no alternatives, making the Sickle-cell disease a chronic disease with an average life expectancy of around 40 years. Currently, the only curative treatment available is the hematopoietic stem cell transplantation. However this treatment is conditioned by immense variables that have to be taken into account from the selection of patients, donors, technical, therapeutic regimes, to the attitude of parents and patients regarding this matter. This review pretend to give an overview of the framework of these variables, the current state of the situation and possible future developments in a simple and understandable way.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2016
Palavras-chave
Anemia falciforme Transplante de células-tronco hematopoéticas Neoplasias hematológicas Pediatria