Yao Q, Furst D E
Division of Rheumatology, David Geffen Medical School at UCLA, Los Angeles, CA 90095, USA.
Rheumatology (Oxford). 2008 Jul;47(7):946-51. doi: 10.1093/rheumatology/ken118. Epub 2008 Apr 3.
To review clinical manifestations and genetic features of the autoinflammatory diseases, a group of rare, genetically defined diseases which have been newly grouped into a coherent whole. We performed a literature review using the keywords 'periodic fever syndrome', 'autoinflammatory disease' and 'therapy'. All relevant original and review articles in English were reviewed. A case report of each autoinflammatory disease was excerpted from the literature and presented. This review summarizes the clinical manifestations, genetic analysis and therapy of FMF, TNF-alpha receptor-associated periodic fever syndrome, hyperimmunoglobulinaemia D periodic fever syndrome and cryopyrin-associated periodic fever syndrome. These diseases have periodic fever, are hereditary and recurrent, with elevated acute-phase reactants. Differentiating features of these disorders are tabulated. Autoinflammatory diseases have some communalities in their presentation although they represent a relatively diverse group of genetically associated diseases.
为回顾自身炎症性疾病的临床表现和遗传特征，这是一组新近被归为一个连贯整体的罕见的、由基因定义的疾病。我们使用关键词“周期性发热综合征”“自身炎症性疾病”和“治疗”进行了文献综述。对所有英文相关的原始文献和综述文章进行了回顾。从文献中摘录并呈现了每种自身炎症性疾病的病例报告。本综述总结了家族性地中海热、肿瘤坏死因子-α受体相关周期性发热综合征、高免疫球蛋白D周期性发热综合征和冷吡啉相关周期性发热综合征的临床表现、基因分析和治疗。这些疾病有周期性发热，具有遗传性且反复发作，急性期反应物升高。列出了这些疾病的鉴别特征。自身炎症性疾病尽管代表了一组遗传相关的相对多样的疾病，但在其表现上有一些共性。
