Huemer C, Huemer M
Abteilung für Kinder- und Jugendheilkunde, Landeskrankenhaus Bregenz, Carl Pedenz Strasse 2, 6900 Bregenz.
Z Rheumatol. 2006 Nov;65(7):595-8, 600-3. doi: 10.1007/s00393-006-0117-5.
Periodic fever syndromes comprise a group of disorders characterized by attacks of seemingly unprovoked inflammation. The genetic causes of five hereditary autoinflammatory syndromes have been identified in the last few years: familial Mediterranean fever, the cryopyrinopathies [Muckle-Wells, chronic infantile neurological, cutaneous, articular syndrome (CINCA) and familial autoinflammatory syndromes], TNF-receptor associated periodic syndrome, cyclic neutropenia syndrome and periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. The study of periodic fever syndromes has progressed from clinical characterization to genetic analysis and to the definition of the functional defects linking genes or domains to apoptotic proteins and signal transduction pathways. This new research opens the way for more specific treatment options with a further improvement in prognosis and outcome.
周期性发热综合征是一组以看似无端炎症发作为特征的疾病。在过去几年中,已确定了五种遗传性自身炎症综合征的遗传病因:家族性地中海热、冷吡啉相关疾病(穆克-韦尔斯综合征、慢性婴儿神经皮肤关节综合征(CINCA)和家族性自身炎症综合征)、肿瘤坏死因子受体相关周期性综合征、周期性中性粒细胞减少综合征以及周期性发热、复发性口腔溃疡、咽炎和颈淋巴结炎(PFAPA)综合征。对周期性发热综合征的研究已从临床特征描述发展到基因分析,并进而明确了将基因或结构域与凋亡蛋白及信号转导通路联系起来的功能缺陷。这项新研究为采用更具特异性的治疗方案开辟了道路,有望进一步改善预后和治疗效果。