Department of Pediatric Sciences, Catholic Universityof the Sacred Heart, Rome, Italy.
Eur Rev Med Pharmacol Sci. 2010 Jan;14(1):1-18.
Systemic autoinflammatory syndromes are a group of inherited and acquired disorders of the innate immunity characterized by recurrence of seemingly unprovoked febrile attacks of variable duration and multi-district inflammation of different severity. The vast majority of these conditions when observed in pediatrics is caused by mutations in genetic systems involved in the orchestration of inflammation and apoptosis. The group includes hereditary recurrent fevers, idiopathic febrile syndromes, hereditary pyogenic disorders, bone autoinflammatory diseases, immune-mediated granulomatous diseases, complement disorders, hemophagocytic and vasculitic syndromes. Diagnostic identification derives from the combination of genotype studies and clinical/bioumoral data showing the spontaneous activation of cells of the innate immunity in the absence of specific ligands, although diagnosis remains only clinical for idiopathic febrile syndromes such as systemic-onset juvenile idiopathic arthritis and PFAPA syndrome. Meeting the needs of patients with complex chronic diseases as systemic autoinflammatory syndromes requires the provision of collaborative multidisciplinary care and the expertise of a number of health care providers across varied health care settings.
系统性自身炎症性疾病是一组固有免疫遗传性和获得性疾病,其特征为反复发作、看似无诱因的发热,持续时间和多部位炎症的严重程度不一。在儿科观察到的绝大多数此类病症是由参与炎症和细胞凋亡调控的遗传系统的突变引起的。该组疾病包括遗传性复发性发热、特发性发热综合征、遗传性化脓性疾病、骨自身炎症性疾病、免疫介导的肉芽肿性疾病、补体疾病、噬血细胞性和血管炎综合征。诊断识别源自基因型研究和临床/生物标志物数据的结合,这些数据显示在没有特定配体的情况下固有免疫细胞的自发激活,尽管对于特发性发热综合征(如全身型幼年特发性关节炎和 PFAPA 综合征),诊断仍然仅为临床诊断。满足患有复杂慢性疾病(如系统性自身炎症性疾病)的患者的需求需要提供协作性多学科护理以及在不同医疗保健环境中为许多医疗保健提供者提供专业知识。