PDF(Pubmed)
Abstract：
Inflammatory bowel disease (IBD) and familial Mediterranean fever (FMF) are inflammatory diseases with complex interactions among genetic, immune, and environmental factors. FMF is a monogenic autoinflammatory disease, characterized by recurrent febrile attacks and polyserositis, and is manifested mainly in childhood. FMF is widespread in Armenia. There are reports on the concurrent occurrence of FMF and IBD. MEFV gene mutations may have a disease-modifying effect on IBD. We have investigated the frequency of MEFV mutations and FMF in Armenian children with IBD and their influence on the clinical course. A total of 69 untreated IBD patients under 18 years of age were enrolled: 52.1% (36) had ulcerative colitis (UC), 21.7% (15) had Crohn\'s disease (CD), and 26.0% (18) had unclassified colitis (IBD-U). The frequency of FMF among them was 36.2% (25/69), and MEFV mutations were identified in 53.6% (37/69). The highest rate of MEFV mutations and FMF was in UC patients (61.1% and 41.6% respectively). In all, 56.7% (21/37) of IBD patients with MEFV mutations had M694V mutated alleles, mainly in compound heterozygous and heterozygous states. There were no associations in the group of IBD patients with coexisting FMF (25), either between any MEFV mutation and type of IBD or coexistence of FMF. Overall, 36.0% (9/25) of them developed VEO IBD and carried mainly the M694V mutation. We concluded that the carrier frequency of MEFV mutations among Armenian pediatric IBD patients was rather high (53.6%), especially for UC. It was suggested that the MEFV gene is not necessarily a susceptibility gene but most likely modifies the course of IBD. MEFV genetic testing was recommended for Armenian pediatric IBD patients, especially for VEO UC and IBD-U, atypical IBD course, or resistance to the conventional treatment. They should also be asked for isolated febrile attacks, recurrent arthritis, and family history, even in the absence of FMF typical symptoms, to rule out FMF and its complications.
摘要：
炎症性肠病(IBD)和家族性地中海热(FMF)是炎症性疾病,免疫，和环境因素。FMF是一种单基因自身炎性疾病,以反复发热发作和多发性浆膜炎为特征，主要表现在童年。FMF在亚美尼亚很普遍。有关于同时发生FMF和IBD的报告。MEFV基因突变可能对IBD具有疾病改善作用。我们调查了亚美尼亚IBD儿童中MEFV突变和FMF的频率及其对临床过程的影响。共纳入69例18岁以下未经治疗的IBD患者：52.1%（36例）患有溃疡性结肠炎（UC），21.7%(15)患有克罗恩病(CD)，26.0%(18)患有未分类结肠炎(IBD-U)。其中FMF的频率为36.2%(25/69)，在53.6%(37/69)中发现了MEFV突变。UC患者MEFV突变和FMF发生率最高(分别为61.1%和41.6%)。总之,56.7%(21/37)的MEFV突变IBD患者存在M694V突变等位基因,主要处于复合杂合和杂合状态。与共存的FMF(25)的IBD患者组中没有关联，在任何MEFV突变和IBD类型或FMF共存之间。总的来说,其中36.0％（9/25）发展为VEOIBD，主要携带M694V突变。我们得出结论，亚美尼亚儿科IBD患者中MEFV突变的携带者频率相当高（53.6％），尤其是UC。有人认为MEFV基因不一定是易感基因，但很可能会改变IBD的病程。MEFV基因检测被推荐用于亚美尼亚儿童IBD患者，特别是对于VEOUC和IBD-U，非典型IBD课程，或抵抗常规治疗。他们还应该被要求进行孤立的发热攻击，复发性关节炎,和家族史,即使没有典型的FMF症状，排除FMF及其并发症。
