Department of Pediatrics, Gastroenterology, Hepatology and Nutrition Unit, Faculty of Medicine, Hacettepe University, 06100 Ankara, Turkey.
Dig Dis Sci. 2010 Dec;55(12):3488-94. doi: 10.1007/s10620-010-1178-5. Epub 2010 Mar 21.
Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) concordance has been investigated in a few studies. We investigated MEFV mutations and prevalence of FMF disease in Turkish children with IBD and their relationship with the disease severity.
Sixteen patients with ulcerative colitis (UC), 14 with Crohn's disease (CD) and three with indeterminate colitis (IC) were enrolled in the study (median age 13 years, range 0.6-16 years, n = 19 boys). Demographic, clinical and laboratory characteristics of the patients were evaluated as well as the parameters of disease severity. All patients were screened for 12 common MEFV mutations.
MEFV mutations were detected in 17 of 66 (25.7%) alleles. Seven patients (four patients with CD, two with IC, and one with UC) were also diagnosed as FMF. FMF disease was found in seven of all IBD patients (21.2%) and four of them had CD. M694V was the leading mutation, and as a disease-causing mutation, it was found to be significantly more frequent in CD patients than UC patients (Fisher's exact test P = 0.03). Demographics, laboratory evaluations, growth parameters, extraintestinal manifestations, and treatment with immunosuppressive agents other than steroids were comparable between the patients with and without FMF in most aspects.
Although this is a small cohort, disease-causing MEFV mutations and FMF disease rate were increased among our patients with IBD. The increase was prominent among CD patients, whereas in UC the rate was similar to the Turkish healthy control population.
已有一些研究调查了家族性地中海热（FMF）和炎症性肠病（IBD）之间的一致性。我们研究了土耳其患有 IBD 的儿童的 MEFV 突变和 FMF 疾病的患病率及其与疾病严重程度的关系。
本研究纳入了 16 例溃疡性结肠炎（UC）患者、14 例克罗恩病（CD）患者和 3 例不确定结肠炎（IC）患者（中位年龄 13 岁，范围 0.6-16 岁，n = 19 例男性）。评估了患者的人口统计学、临床和实验室特征以及疾病严重程度的参数。所有患者均筛查了 12 种常见的 MEFV 突变。
在 66 个（25.7%）等位基因中检测到 MEFV 突变 17 个。7 名患者（4 名 CD 患者、2 名 IC 患者和 1 名 UC 患者）也被诊断为 FMF。FMF 疾病在所有 IBD 患者中发现 7 例（21.2%），其中 4 例为 CD。M694V 是主要突变，作为致病突变，在 CD 患者中比 UC 患者更为常见（Fisher 确切检验 P = 0.03）。在大多数方面，患有和不患有 FMF 的患者在人口统计学、实验室评估、生长参数、肠外表现以及除类固醇以外的免疫抑制剂治疗方面无差异。
尽管这是一个小队列，但我们的 IBD 患者中致病 MEFV 突变和 FMF 疾病的发生率增加。在 CD 患者中增加更为明显，而在 UC 患者中，其发生率与土耳其健康对照组相似。
