Résumé
This study aimed to discuss the morality of public funding for highly expensive orphan drugs for treatment of rare genetic diseases, using tools from bioethics, especially the principle of protection, applicable to vulnerable individuals and populations. Based on this principle, and considering the provisions of the Unified National Health System (SUS), the article argues for the state's moral obligation to provide public policies to ensure care for individuals with genetic diseases like lysosomal storage disorders, who can thus be viewed as "injured", besides suggesting measures to implement and ensure the sustainability of policies with an emphasis on resource allocation, targeting, and equity.
Este trabalho tem como objetivo discutir a moralidade do financiamento público das drogas órfãs, de altíssimo custo, para o tratamento de doenças genéticas raras, utilizando as ferramentas da Bioética, em especial o princípio da proteção, aplicável a indivíduos e populações vulneradas. Com base neste princípio, e considerando o contexto normativo constituído pelo Sistema Único de Saúde (SUS), argumenta-se sobre a obrigação moral do Estado de prover políticas públicas que assistam ao indivíduo portador de uma doença genética - como a de depósito lisossômico - e que pode, portanto, ser considerado, "vulnerado", bem como são sugeridas medidas que possam implementar e dar sustentabilidade a tais políticas com ênfase em questões de alocação de recursos, focalização e equanimidade.
Sujets)
Humains , Maladies lysosomiales/traitement médicamenteux , Programmes nationaux de santé , Médicament orphelin , Maladies rares/traitement médicamenteux , Bioéthique , Brésil , Conflit d'intérêts , Traitement médicamenteux , Traitement médicamenteux/économie , Gouvernement fédéral , Législation sur les produits chimiques ou pharmaceutiques , Sens moral , Médicament orphelin/économie , Médicament orphelin/législation et jurisprudence , Éthique basée sur les principes , Politique publique , Justice sociale , Populations vulnérablesRésumé
Fabry disease is a lysosomal storage disease with an X-linked inheritance pattern, which presents in childhood as acroparaesthesias. Its non-specific symptoms often lead to delays in the diagnosis. We report the case of a 13-year-old boy who presented with typical acroparaesthesia of Fabry disease, his younger brother had gastrointestinal manifestations of the disease and their mother’s symptoms suggested that she is a carrier. Enzyme replacement therapy helped in ameliorating the patient’s symptoms and preventing complications such as renal failure, stroke and cardiovascular disorders.