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Síndromes auto-inflamatórios : análise dos dados registados no Reuma.pt de um centro universitário
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Introdução: As síndromes auto-inflamatórias (SAIs) são um grupo de condições clínicas raras, em crescente conhecimento fenotípico e de marcadores genéticos. Registos multicêntricos das SAIs permitem um melhor conhecimento das manifestações clínicas e do curso da doença.
Objetivo: Realizar a análise das características clínicas e genéticas SAIs dos doentes do Hospital de Santa Maria registados no protocolo das SAIs do Reuma.pt.
Metodologia: Os critérios de inclusão no protocolo SAI do Reuma.pt são o diagnóstico de SAIs monogénico ou de SAI com fundo genético desconhecido. Os dados clínicos anteriores a Outubro de 2013 foram registados de forma retrospetiva e os posteriores a esta data de forma prospetiva.
Resultados: Foram analisados 43 doentes (26 do sexo masculino e 17 do sexo feminino). A idade média da amostra foi de 10,4±4,9 anos, com idade média no início da doença de 3,9±3,6 anos, com duração média de doença de 6,5±3,8 anos. O tempo médio entre o início dos sintomas e o diagnóstico foi de 2,2±2,1 anos. Realizados os seguintes diagnósticos: FMF (n=1), MKD (n=2), TRAPS (n=1), CAMPS (n=1), PFAPA (n=27), CRMO (n=4) e SAIND (n=7). Confirmadas 3 mutações de SAIs monogénicos. Cinco doentes encontravam-se a realizar terapêutica biotecnológica.
Conclusão: Através do registo das SAIs de forma sistemática pode-se compreender melhor o curso da doença, resposta ao tratamento e prognóstico.
Introduction: Auto-inflammatory diseases (AIDs) are a rare and newly understood group of conditions with expanding phenotypes and genetic markers. Multicentre AIDs registries enable a better understanding of clinical features and outcomes of such diseases. Objective: The aim of the present work is the assessment of clinical and genetic features of AIDs of the Hospital Santa Maria registered at Reuma.pt AIDs protocol. Methods: Inclusion criteria in this protocol are monogenic AIDs or clinically confirmed AID with unknown genetic background. Previous clinical data to October 2013 were analyzed retrospectively and subsequent clinical data to this date analyzed prospectively. Results: 43 patients (26 males and 17 females) registered at Hospital Santa Maria were analysed. Mean age was 10,4±4,9 years , mean age at disease onset was 3,9±3,6 years, disease duration was 6,5±3,8 years and mean time between symptoms onset and clinical diagnosis was 2,2±2,1 years. The following diagnosis have been identified: FMF (n=1), MKD (n=2), TRAPS (n=1), CAMPS (n=1), PFAPA (n=27), CRMO (n=4), and undefined AID (n=7). Confirmed 3 mutations for monogenic AID. Five patients were under biologic therapy. Conclusion: Through this register AIDs can be systematically investigated paving the way to a better understanding of disease course, treatment responses and prognosis.
Introduction: Auto-inflammatory diseases (AIDs) are a rare and newly understood group of conditions with expanding phenotypes and genetic markers. Multicentre AIDs registries enable a better understanding of clinical features and outcomes of such diseases. Objective: The aim of the present work is the assessment of clinical and genetic features of AIDs of the Hospital Santa Maria registered at Reuma.pt AIDs protocol. Methods: Inclusion criteria in this protocol are monogenic AIDs or clinically confirmed AID with unknown genetic background. Previous clinical data to October 2013 were analyzed retrospectively and subsequent clinical data to this date analyzed prospectively. Results: 43 patients (26 males and 17 females) registered at Hospital Santa Maria were analysed. Mean age was 10,4±4,9 years , mean age at disease onset was 3,9±3,6 years, disease duration was 6,5±3,8 years and mean time between symptoms onset and clinical diagnosis was 2,2±2,1 years. The following diagnosis have been identified: FMF (n=1), MKD (n=2), TRAPS (n=1), CAMPS (n=1), PFAPA (n=27), CRMO (n=4), and undefined AID (n=7). Confirmed 3 mutations for monogenic AID. Five patients were under biologic therapy. Conclusion: Through this register AIDs can be systematically investigated paving the way to a better understanding of disease course, treatment responses and prognosis.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2016
Palavras-chave
Síndromes auto-inflamatórios Doenças reumáticas Registos médicos Reumatologia