Rigante D, La Torraca I, Ansuini V, Compagnone A, Sallì A, Stabile A
Centre of Periodic Fevers, Department of Pediatric Sciences, Università Cattolica del Sacro Cuore, Rome, Italy.
Eur Rev Med Pharmacol Sci. 2006 Jul-Aug;10(4):163-71.
Familial Mediterranean fever (FMF) is characterized by recurrent self-limiting flares of fever in the absence of pathogens, autoantibodies or antigen specific T cells and is inherited as an autosomal recessive trait probably deriving from common ancestors of Armenian, Jew, Turk and Arab origin. The underlying pathogenetic mechanisms of FMF have not been fully interpreted, but mutations in the gene MEFV encoding pyrin, a natural repressor of proinflammatory molecules, result in uncontrolled relapsing systemic inflammation, increased leukocyte migration to serosal membranes or joints and inappropriate response to inflammatory stimuli. FMF heterogeneous phenotypic expression could originate both from allelic heterogeneity or from the existence of modulating genes. Proper diagnosis of FMF is needed to begin both specific clinical management and treatment based on continuous prophylactic administration of colchicine, preventing flares or at least the onset of amyloidosis.
家族性地中海热（FMF）的特征是在没有病原体、自身抗体或抗原特异性T细胞的情况下反复出现自限性发热，它作为一种常染色体隐性性状遗传，可能源自亚美尼亚、犹太、土耳其和阿拉伯血统的共同祖先。FMF潜在的发病机制尚未完全阐明，但编码pyrin（一种促炎分子的天然抑制剂）的MEFV基因突变会导致不受控制的复发性全身炎症、白细胞向浆膜或关节迁移增加以及对炎症刺激的不适当反应。FMF的异质性表型表达可能源于等位基因异质性或调节基因的存在。需要对FMF进行正确诊断，以便基于连续预防性服用秋水仙碱开始具体的临床管理和治疗，预防发作或至少预防淀粉样变性的发生。
