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Criopirinopatias : desafio diagnóstico e terapêutico em Pediatria
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As síndromes periódicas associadas às criopirinas (CAPS), ou criopirinopatias, estão associadas a mutações do gene NLRP3 e fazem parte do grupo de Doenças Autoinflamatórias - doenças com episódios de inflamação sistémica recorrente, consequentes da desregulação do sistema imunitário inato com aumento de citocinas pró-inflamatórias, como a Interleucina-1 (IL-1). Estas síndromes têm habitualmente início na infância e manifestam-se por episódios de febre recorrente, associada frequentemente a outros sintomas e sinais de inflamação sistémica, acompanhados analiticamente por aumento de marcadores inflamatórios. Embora raras, estas doenças têm tido progressivamente maior reconhecimento, não só pelo desenvolvimento científico associado, que permite uma maior compreensão do sistema imunitário inato e do funcionamento do inflamassoma NLRP3, como também pela constante procura e identificação de novas mutações genéticas, que tornam possível oferecer uma terapêutica de precisão dirigida aos doentes, treat-to-target, e delinear outras medidas que melhoraram significativamente a sua sintomatologia, acompanhamento e qualidade de vida. Sendo assim, torna-se premente o seu diagnóstico, que dada a sua apresentação clínica inespecífica, depende diretamente de um elevado grau de suspeição. Neste artigo pretende-se descrever um caso de uma doente de 9 anos identificada em Portugal com diagnóstico clínico de CAPS, acompanhada desde os 24 meses no Hospital Santa Maria, comparando à mais recente evidência científica o seguimento dado, os procedimentos adotados e a resposta aos tratamentos realizados. Pretende-se ainda sinalizar os principais entraves e problemas encontrados na sua marcha diagnóstica e acompanhamento, que dificultam a correta identificação destas síndromes e uma abordagem de tratamento holística.
The periodic fever syndromes associated with cryopyrin (CAPS), or cryopyrinopathies, are associated with mutations in the NLRP3 gene and belong to the group of Autoinflammatory Diseases - diseases characterized by episodes of recurrent systemic inflammation resulting from dysregulation of the innate immune system with increased pro-inflammatory cytokines, such as Interleukin-1 (IL-1). These syndromes typically begin in childhood and manifest as episodes of recurrent fever, often accompanied by other symptoms and signs of systemic inflammation, along with increased inflammatory markers in laboratory tests. Although rare, these diseases have been increasingly recognized, not only due to the associated scientific advancements that provide a better understanding of the innate immune system and the functioning of the NLRP3 inflammasome, but also due to the ongoing search and identification of new genetic mutations, making it possible to offer precision-targeted therapy, treat-totarget approach, and implement other measures that significantly improve their symptoms, management, and quality of life. Therefore, an urgent need arises for their diagnosis, which, given their nonspecific clinical presentation, relies directly on a high degree of suspicion. This article aims to describe a case of a 9-year-old patient identified in Portugal with a clinical diagnosis of CAPS, who has been followed since the age of 24 months at Hospital Santa Maria, comparing the given follow-up, the procedures adopted, and the response to the treatments administered with the most recent scientific evidence. It also aims to highlight the main obstacles and problems encountered in the diagnostic process and management, which hinder the proper identification of these syndromes and a holistic treatment approach.
The periodic fever syndromes associated with cryopyrin (CAPS), or cryopyrinopathies, are associated with mutations in the NLRP3 gene and belong to the group of Autoinflammatory Diseases - diseases characterized by episodes of recurrent systemic inflammation resulting from dysregulation of the innate immune system with increased pro-inflammatory cytokines, such as Interleukin-1 (IL-1). These syndromes typically begin in childhood and manifest as episodes of recurrent fever, often accompanied by other symptoms and signs of systemic inflammation, along with increased inflammatory markers in laboratory tests. Although rare, these diseases have been increasingly recognized, not only due to the associated scientific advancements that provide a better understanding of the innate immune system and the functioning of the NLRP3 inflammasome, but also due to the ongoing search and identification of new genetic mutations, making it possible to offer precision-targeted therapy, treat-totarget approach, and implement other measures that significantly improve their symptoms, management, and quality of life. Therefore, an urgent need arises for their diagnosis, which, given their nonspecific clinical presentation, relies directly on a high degree of suspicion. This article aims to describe a case of a 9-year-old patient identified in Portugal with a clinical diagnosis of CAPS, who has been followed since the age of 24 months at Hospital Santa Maria, comparing the given follow-up, the procedures adopted, and the response to the treatments administered with the most recent scientific evidence. It also aims to highlight the main obstacles and problems encountered in the diagnostic process and management, which hinder the proper identification of these syndromes and a holistic treatment approach.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2023
Palavras-chave
Síndromes periódicas associadas às criopirinas (CAPS) Criopirinopatias Síndromes de febre periódica Gene NLRP3 Doenças autoinflamatórias Pediatria