Kötter I, Schedel J, Kümmerle-Deschner J B
Abteilung II (Onkologie, Hämatologie, Immunologie, Rheumatologie, Pulmologie), Medizinische Universitätsklinik Tübingen, Otfried-Müller-Str. 10, 72076 Tübingen.
Z Rheumatol. 2009 Mar;68(2):137-48; quiz 149. doi: 10.1007/s00393-009-0449-z.
Hereditary periodic fever syndromes (autoinflammatory syndromes) are characterised by relapsing fevers and additional manifestations such as skin rashes, mucosal manifestations, and joint pain. Some of these disorders only present with organ manifestations and serological signs of inflammation without obvious fever (e.g. PAPA and Blau syndrome). There is a strong serological inflammatory response with an elevation of serum amyloid A (risk of secondary amyloidosis). There are monogenic disorders for which the mode of inheritance and gene mutation are known, but probably also polygenic diseases which present with similar symptoms to the classic autoinflammatory syndromes. Gene mutations have been described for the monogenic disorders (FMF, HIDS, CAPS, PAPA and Blau syndrome), which lead to an induction of the production of IL-1ss. Therapeutically, the IL-1-receptor antagonist anakinra is mainly used. In the case of TRAPS and Blau syndrome, TNF antagonists may also be used. PFAPA syndrome, the Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet's disaese and Crohn's disease also are mentioned as additional possible autoinflammatory syndromes.
遗传性周期性发热综合征（自身炎症性综合征）的特征为反复发热以及皮疹、黏膜表现和关节疼痛等其他表现。其中一些疾病仅表现为器官表现和炎症的血清学征象，而无明显发热（如PAPA综合征和Blau综合征）。存在强烈的血清学炎症反应，血清淀粉样蛋白A升高（有继发性淀粉样变性风险）。有一些单基因疾病，其遗传方式和基因突变已为人所知，但可能也存在与经典自身炎症性综合征症状相似的多基因疾病。已描述了单基因疾病（家族性地中海热、高IgD综合征、冷吡啉相关周期性综合征、PAPA综合征和Blau综合征）的基因突变，这些突变导致白细胞介素-1β的产生增加。在治疗上，主要使用白细胞介素-1受体拮抗剂阿那白滞素。对于肿瘤坏死因子受体相关周期性综合征和Blau综合征，也可使用肿瘤坏死因子拮抗剂。PFAPA综合征、施尼茨勒综合征、成人和儿童期起病的斯蒂尔病、白塞病和克罗恩病也被提及为其他可能的自身炎症性综合征。
