Gülhan Bora, Akkuş Abdulkadir, Ozçakar Levent, Beşbaş Nesrin, Ozen Seza
Hacettepe University, İhsan Doğramacı Children's Hospital, Department of Pediatric Nephrology and Rheumatology, Ankara, Turke.
Clin Exp Rheumatol. 2014 Jul-Aug;32(4 Suppl 84):S160-4. Epub 2014 Feb 24.
Enthesitis-related arthritis (ERA), is a complex genetic disease. Although HLA-B27 is well established, it does not explain all the genetic load in ERA. Familial Mediterranean fever (FMF), caused by mutations in the MEFV gene, is a frequent autoinflammatory disorder in the eastern Mediterranean.
We investigated the clinical and imaging features of 53 ERA patients, as well as the frequency of MEFV gene mutations in those who were HLA-B27 negative.
The mean age of the patients was 13.3±2.2 years and 49 were boys. Peripheral arthritis was present in all and sacroiletis in 26 patients. Ultrasonography showed enthesitis in 6 patients of the tendons, whereas these were assessed to be normal by physical examination. Forty patients (75.5%) were positive for HLA-B27. MEFV analysis was performed for patients who were HLA-B27 negative. One patient refused MEFV analysis. 9 patients carried MEFV mutations: 2 patients were homozygous for M694V (both patients were subsequently started colchicine along with ERA treatment), 5 patients were heterozygous for M694V mutation, 1 patient was heterozygous for E148Q, and 1 patient was heterozygous for K695R mutation. None of the patients had features suggesting FMF at diagnosis of ERA; 1 patient subsequently developed typical FMF attacks.
Our findings suggest that MEFV mutations may represent a susceptibility factor for ERA in the populations of the eastern Mediterranean.
附着点炎相关关节炎（ERA）是一种复杂的遗传疾病。尽管HLA - B27已被充分证实，但它并不能解释ERA所有的遗传负荷。由MEFV基因突变引起的家族性地中海热（FMF）是东地中海地区常见的自身炎症性疾病。
我们调查了53例ERA患者的临床和影像学特征，以及HLA - B27阴性患者中MEFV基因突变的频率。
患者的平均年龄为13.3±2.2岁，其中49例为男性。所有患者均有外周关节炎，26例有骶髂关节炎。超声检查显示6例患者肌腱有附着点炎，而体格检查评估这些肌腱正常。40例患者（75.5%）HLA - B对27呈阳性。对HLA - B27阴性的患者进行了MEFV分析。1例患者拒绝进行MEFV分析。9例患者携带MEFV突变：2例患者为M694V纯合突变（这2例患者随后在进行ERA治疗的同时开始服用秋水仙碱），5例患者为M694V突变杂合子，1例患者为E148Q杂合子，1例患者为K695R突变杂合子。在ERA诊断时，所有患者均无提示FMF的特征；1例患者随后出现典型的FMF发作。
我们的研究结果表明，MEFV突变可能是东地中海人群中ERA的一个易感因素。
