Institute of Pediatrics, Università Cattolica Sacro Cuore, Rome, Italy.
Biomed Res Int. 2013;2013:485103. doi: 10.1155/2013/485103. Epub 2013 Jul 23.
Autoinflammatory diseases are comprehensively caused by aberrant production of proinflammatory cytokines and are revealed by cyclically and spontaneously occurring inflammatory events. Over the last decade, there has been a revolution in the understanding of periodic fever syndromes, cryopyrinopathies, and skin disorders with pyogenic, granulomatous, or dystrophic features, which have been recognized across different countries spanning from the Mediterranean basin to the Japanese archipelago. Many children and adults with autoinflammatory diseases continue to elude diagnosis, and the diagnostic delay of many years puts these patients at risk of long-term severe complications, such as amyloidosis. Any hint of suspicion of autoinflammatory disease thus needs to be highlighted in various medical specialties, and this review examines their frequencies around the world, trying to match them with geographic location, ethnic and genetic data, in an attempt to realize a geoepidemiologic map for most of these conditions.
自身炎症性疾病是由促炎细胞因子异常产生引起的，表现为周期性和自发性炎症事件。在过去的十年中，周期性发热综合征、冷吡啉相关周期性综合征和伴有化脓性、肉芽肿性或营养不良性特征的皮肤疾病的认识发生了革命性的变化，这些疾病在跨越从地中海盆地到日本列岛的不同国家中都有被发现。许多患有自身炎症性疾病的儿童和成人仍未被确诊，多年的诊断延迟使这些患者面临长期严重并发症的风险，如淀粉样变性。因此，任何对自身炎症性疾病的怀疑都需要在各个医学专业中得到强调，本综述检查了它们在世界各地的频率，并试图将其与地理位置、种族和遗传数据相匹配，以试图为大多数这些疾病绘制一个地理流行病学图谱。
