Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey.
Clin Exp Rheumatol. 2009 Mar-Apr;27(2 Suppl 53):S29-31.
Certain vasculitides have an increased prevalence among patients with familial Mediterranean fever (FMF). Subsequently, it was noticed that patients with certain rheumatic diseases had an increased carrier rate for mutations in the MEFV gene including seronegative spondyloarhtropatheis, Henoch Schönlein purpura, polyarteritis nodosa and some forms of juvenile idiopathic arthritis. Furthermore in populations where the disease is rare, certain polymorphisms have been associated with a severe inflammatory complication in arthritis. The effect of these polymorphisms are probably through the upregulation of the innate immune system which serves as the initial response to the environmental trigger. It may be suggested for the aforementioned clinical associations that mutations/polymorphisms in the MEFV gene may well be susceptibility factors for the disease or a more severe course of the disease for a number of rheumatic diseases.
某些血管炎在家族性地中海热（FMF）患者中的患病率增加。随后，人们注意到某些风湿性疾病患者的 MEFV 基因突变携带率增加，包括血清阴性脊柱关节病、过敏性紫癜、结节性多动脉炎和某些类型的青少年特发性关节炎。此外，在疾病罕见的人群中，某些多态性与关节炎的严重炎症并发症有关。这些多态性的作用可能是通过上调先天免疫系统来实现的，先天免疫系统是对环境触发因素的初始反应。对于上述临床关联，可以认为 MEFV 基因突变/多态性可能是多种风湿性疾病的疾病易感性因素或疾病更严重的病程。
