Schedel J, Bach B, Kümmerle-Deschner J B, Kötter I
Klinik für Innere Medizin I - Gastroenterologie/Hepatologie, Hämatologie/Onkologie, Endokrinologie, Diabetologie, Infektiologie, Klinikum Weiden, Söllnerstrasse 16, Weiden, Germany.
Hautarzt. 2011 May;62(5):389-401; quiz 402. doi: 10.1007/s00105-010-2124-3.
Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.
遗传性周期性（发热）综合征，也称为自身炎症性综合征，其特征为复发性发热以及其他表现，如皮疹、黏膜表现或关节症状。其中一些疾病表现为器官受累及炎症的血清学征象，但无发热。存在强烈的血清学炎症反应，血清淀粉样蛋白A（SAA）升高，导致继发性淀粉样变性风险增加。存在单基因疾病（家族性地中海热（FMF）、高IgD综合征（HIDS）、冷吡啉相关周期性综合征（CAPS）、“化脓性关节炎、痤疮、坏疽性脓皮病”（PAPA）以及“儿童肉芽肿性关节炎（PGA）”），这些疾病中已描述了基因中的突变，这些突变部分通过影响炎性小体的功能，部分通过其他方式，导致白细胞介素-1β（IL-1β）产生的诱导。在“早发性肠炎（IBD）”中，功能性白细胞介素-10受体缺乏。在治疗上，首先使用白细胞介素-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（TRAPS）和儿童肉芽肿性关节炎（PGA），也可使用肿瘤坏死因子拮抗剂（依那西普）；在家族性地中海热（FMF）中，秋水仙碱是首选。作为其他可能的自身炎症性综合征，还提到了PFAPA综合征（周期性发热伴口疮性口炎、咽炎和腺炎）、施尼茨勒综合征、成人和儿童期的斯蒂尔病、白塞病、痛风、慢性复发性多灶性骨髓炎（CRMO）以及克罗恩病。
