Horcada Rubio M L, Delgado Beltrán C, Armas Ramírez C
Servicio de Reumatología, Hospital Clínico Universitario Lozano Blesa, Zaragoza.
An Med Interna. 2004 Mar;21(3):143-7. doi: 10.4321/s0212-71992004000300011.
At last year the great scientific advances in genetics and molecular biology have led to a bigger knowledge about we nowadays call "Autoinflammatory syndromes", characterized by recurrent inflammatory episodes genetically determined and not mediated by autoimmunity. In this group, they are included the hereditary periodic fever syndromes: familial mediterranean fever (FMF), hyper Ig-D syndrome (HIDS), TNF-receptor-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), CINCA syndrome. The past 6 year have witnessed the identification of genes causing these diseases. Some of these genes encode proteins with a common domain (PYRIN domain). These protein are part of regulatory pathway of inflammation and apoptosis. The purpose of this article, is to carry out review of the genetic, clinical, molecular and rheumatologic aspect of these syndromes, in part unknown. Although they are not common, they are not absent in our diary clinical practise. Their study and research we will be able to obtain new knowledge that lead us to solve the complex inflammatory process.
去年，遗传学和分子生物学领域的重大科学进展使我们对如今所称的“自身炎症性综合征”有了更深入的了解，这些综合征的特征是由遗传决定且不由自身免疫介导的复发性炎症发作。在这一类别中，包括遗传性周期性发热综合征：家族性地中海热（FMF）、高Ig - D综合征（HIDS）、肿瘤坏死因子受体相关周期性综合征（TRAPS）、穆克勒 - 韦尔斯综合征（MWS）、家族性寒冷自身炎症性综合征（FCAS）、慢性婴儿神经皮肤关节综合征（CINCA综合征）。在过去的6年里，已经发现了导致这些疾病的基因。其中一些基因编码具有共同结构域（PYRIN结构域）的蛋白质。这些蛋白质是炎症和细胞凋亡调节途径的一部分。本文的目的是对这些部分尚不明确的综合征的遗传、临床、分子和风湿病学方面进行综述。尽管它们并不常见，但在我们日常临床实践中并非不存在。对它们的研究将使我们能够获得新知识，从而引导我们解决复杂的炎症过程。
