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一例复发性发热的疑难病例。

A Challenging Case of Recurrent Fever.

作者信息

Andrade Catarina, Câmara Beatriz, Figueira Ricardo, Esteves Isabel, Cabral António Jorge

机构信息

Pediatrics, Hospital Central do Funchal, Serviço de Saúde da Região Autónoma da Madeira, Entidade Pública Empresarial da Região Autónoma da Madeira (SESARAM, EPERAM), Funchal, PRT.

Rheumatology, Hospital Central do Funchal, Serviço de Saúde da Região Autónoma da Madeira, Entidade Pública Empresarial da Região Autónoma da Madeira (SESARAM, EPERAM), Funchal, PRT.

出版信息

Cureus. 2024 Aug 19;16(8):e67216. doi: 10.7759/cureus.67216. eCollection 2024 Aug.

Abstract

Syndrome of undifferentiated recurrent fever (SURF) includes heterogeneous episodes of systemic inflammation without documented infection, without response to antibiotherapy, and characterized by a paucity of specific clinical or molecular criteria. Colchicine is an effective treatment with an impact on morbimortality. We describe a case of a previously healthy one-year-old male, with consanguineous ancestry, admitted four times due to recurrent fever, associated with nonspecific symptoms and an increase of inflammatory markers in a sepsis-like pattern. No consistent infection was documented, and there was no response to broad-spectrum antibiotics. The evolution revealed corticosteroid dependency. The autoinflammatory syndrome-targeted next-generation sequencing (NGS) gene panel didn't detect relevant pathogenic variants. SURF was postulated as a diagnosis of exclusion, and the effectiveness of colchicine supports an autoinflammatory etiology. We aimed to draw attention to recurrent fevers associated with autoinflammatory disorders due to their challenging diagnosis. Improved understanding of immune pathways and advances in genetic testing will enable greater accuracy in the approach.

摘要

未分化型复发性发热综合征(SURF)包括全身性炎症的异质性发作,无感染记录,对抗生素治疗无反应,且缺乏特异性临床或分子标准。秋水仙碱是一种有效的治疗方法,对病死率有影响。我们描述了一例先前健康的一岁男性病例,有近亲血统,因反复发热四次入院,伴有非特异性症状以及炎症标志物呈脓毒症样升高。未记录到持续感染,对广谱抗生素无反应。病情发展显示对皮质类固醇有依赖性。针对自身炎症综合征的下一代测序(NGS)基因检测板未检测到相关致病变异。SURF被推测为排除性诊断,秋水仙碱的有效性支持自身炎症病因。我们旨在引起人们对与自身炎症性疾病相关的反复发热的关注,因为其诊断具有挑战性。对免疫途径的更好理解和基因检测的进展将使诊断方法更加准确。

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Classification criteria for autoinflammatory recurrent fevers.自身炎症性反复发作性发热的分类标准。
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