Avaliação da viabilidade da implantação da triagem neonatal para distrofia muscular de Duchenne no Estado de Mato Grosso, Brasil
DOI:
https://doi.org/10.11606/issn.2176-7262.rmrp.2025.213843Palavras-chave:
Distrofia muscular de Duchenne, Triagem neonatal, Estudos de viabilidade, Avaliação da saúdeResumo
O objetivo deste estudo foi avaliar a viabilidade de um programa de triagem neonatal não obrigatória para Distrofia Muscular de Duchenne, no estado de Mato Grosso. Uma revisão sistemática avaliou a precisão da creatina quinase para a triagem proposta. As sínteses de evidências buscaram identificar o tratamento. A aceitação do teste foi determinada por meio de entrevistas com os pais. Foi realizado impacto orçamentário, investigação de oportunidades futuras, ameaças envolvendo testes de triagem e um painel de especialistas discutiu os resultados. A revisão sistemática incluiu 11 estudos da vida real e apontou boa precisão do teste. Com limitações importantes, um único estudo descobriu que os glicocorticoides eram bem tolerados e poderiam melhorar os escores motores. A triagem neonatal parece não resultar em danos psicossociais significativos para as famílias rastreadas e foi bem aceita pelos pais entrevistados (94,5%). O custo por caso detectado foi de R$ 37.989,65/ano e o impacto orçamentário de R$ 79.783,61 a R$ 186.161,75 do primeiro ao quinto. A intervenção é de baixo custo e provou ser precisa para triagem. No entanto, o programa de triagem foi considerado inviável por questões logísticas; ausência de tratamento específico para indivíduos rastreados e identificação de teste de creatina quinase de dois monômeros B no monitoramento do horizonte tecnológico.
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Direitos autorais (c) 2026 Kelli Carneiro de Freitas Nakata, Luisa Daige Marques, Helder Cassio de Oliveira, Priscilla Perez da Silva Pereira, Victor Edney de Carvalho Maio
Este trabalho está licenciado sob uma licença Creative Commons Attribution 4.0 International License.
