Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, Siena, Italy.
Ann Med. 2012 Nov;44(7):664-73. doi: 10.3109/07853890.2011.598546. Epub 2011 Oct 5.
Systemic autoinflammatory diseases are a group of inherited disorders of the innate immune system characterized by seemingly unprovoked inflammation recurring at variable intervals and involving skin, serosal membranes, joints, and gastrointestinal apparatus, with reactive amyloidosis as a possible severe long-term complication. Recent advances in genetics and molecular biology have improved our understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, and hereditary pyogenic and granulomatous disorders: the vast majority of these conditions are related to the activation of the interleukin-1 pathway, which results in (or from?) a common unifying pathogenetic mechanism. Their diagnostic identification derives from the combination of clinical data, evaluation of acute phase reactants, clinical efficacy in response to specific drugs, and recognition of specific mutations in the relevant genes, although genetic tests may be unconstructive in some cases. This review will discuss clinical and laboratory clues useful for a diagnostic approach to systemic autoinflammatory diseases.
系统性自身炎症性疾病是一组固有免疫系统遗传性疾病，其特征为看似无诱因的炎症反复发作，间隔时间不定，涉及皮肤、浆膜、关节和胃肠道，反应性淀粉样变性可能是一种严重的长期并发症。遗传和分子生物学的最新进展提高了我们对这些疾病发病机制的理解，包括家族性地中海热、甲羟戊酸激酶缺乏综合征、肿瘤坏死因子受体相关周期性综合征、冷球蛋白血症相关周期性综合征和遗传性化脓性和肉芽肿性疾病：绝大多数情况下与白细胞介素-1 通路的激活有关，导致（或源自）一种共同的统一发病机制。其诊断识别源自临床数据的组合、急性期反应物的评估、对特定药物的临床疗效以及相关基因中特定突变的识别，尽管在某些情况下基因检测可能没有建设性。这篇综述将讨论有助于系统性自身炎症性疾病诊断方法的临床和实验室线索。
