Department of Gastroenterology, Gaziosmanpasa University School of Medicine, 60100, Tokat, Turkey.
Rheumatol Int. 2011 Jul;31(7):859-64. doi: 10.1007/s00296-010-1380-y. Epub 2010 Mar 12.
Ulcerative colitis (UC) is an inflammatory disease of the colonic mucosa. The presence of gene responsible for FMF, MEFV, which frequently causes inflammation, may aggravate the clinical course of UC. We aimed to determine the prevalence of MEFV mutations in UC patients and its impact on the clinical course. Four groups were formed as group 1 UC with distal disease, group 2 UC with pancolonic disease, group 3 UC with total colectomy, and group 4 Rheumatoid Arthritis (RA) patients. Eleven mutations of FMF gene were investigated. The mean age of group 1, 2, 3, and 4 were 46.7 ± 13.9, 43.8 ± 12.9, 44.8 ± 14.2, and 45.8 ± 10.9 years, respectively. The mutations were identified in 19 of the 54 UC patients (35.2%). Homozygous E148Q in 2 patients (3.7%) and heterozygous in 17 patients (31.5%) (E148Q 11.1%, M694V 5.6%, V726A 5.6%, K695R 1.8%, M680I 1.8%, and compound heterozygous 5.6%) were determined. Frequencies of MEFV mutations in group 1, 2, and 3 were 30, 27.3, and 58.3%, respectively. The mutations were identified in 3 of the 20 RA patients (15%). All of them were heterozygous. The rate of MEFV mutations were higher in group 3 than in group 4 (P = 0.018), and the number of attacks that were treated with steroid in all UC patients with mutation positive was higher than in mutation negative (P = 0.016). FMF gene mutations may be identified in UC patients up to 58.3%. It may be suggested that the UC patients with severe form should be identified for MEFV mutations before the judgment of colectomy.
溃疡性结肠炎（UC）是一种结肠黏膜的炎症性疾病。导致频繁炎症的 MEFV 基因的存在可能会使 UC 的临床病程恶化。我们旨在确定 UC 患者中 MEFV 突变的流行率及其对临床病程的影响。将患者分为 4 组：第 1 组为远端疾病的 UC 患者，第 2 组为全结肠炎的 UC 患者，第 3 组为接受全结肠切除术的 UC 患者，第 4 组为类风湿关节炎（RA）患者。对 FMF 基因的 11 种突变进行了研究。第 1、2、3 和 4 组的平均年龄分别为 46.7 ± 13.9、43.8 ± 12.9、44.8 ± 14.2 和 45.8 ± 10.9 岁。在 54 例 UC 患者中发现了 19 例（35.2%）突变。2 例（3.7%）为纯合 E148Q，17 例（31.5%）为杂合 E148Q（11.1%、M694V 5.6%、V726A 5.6%、K695R 1.8%、M680I 1.8%和复合杂合 5.6%）。第 1、2 和 3 组 MEFV 突变的频率分别为 30%、27.3%和 58.3%。在 20 例 RA 患者中发现了 3 例（15%）突变。它们均为杂合。第 3 组的 MEFV 突变率高于第 4 组（P = 0.018），且所有突变阳性的 UC 患者中接受类固醇治疗的发作次数均高于突变阴性患者（P = 0.016）。UC 患者中高达 58.3%可能存在 FMF 基因突变。这表明在判断是否进行结肠切除术之前，应确定患有严重形式 UC 的患者是否存在 MEFV 突变。
