Ozen Seza, Bakkaloglu Aysin, Yilmaz Engin, Duzova Ali, Balci Banu, Topaloglu Rezan, Besbas Nesrin
Department of Pediatrics, Hacettepe University, 06100 Ankara, Turkey.
J Rheumatol. 2003 Sep;30(9):2014-8.
To analyze 70 individuals who were found to have the Mediterranean fever (MEFV) gene for the presence of definite familial Mediterranean fever (FMF) and to assess if they were prone to clinical and laboratory inflammation. We also prospectively evaluated 72 patients with childhood rheumatic diseases for the presence of MEFV mutations.
Seventy patients with one MEFV gene mutation were reevaluated for the presence of a clinical FMF phenotype using a new set of criteria. They were also questioned for the presence of musculoskeletal symptoms and rheumatic diseases. They were sampled for erythrocyte sedimentation rates and C-reactive protein levels. A second group with childhood rheumatic diseases were diagnosed according to international criteria.
Median age of the 70 heterozygous individuals was 12 years. About 1/3 (34.3%) were classified with clinical FMF phenotype according to the suggested criteria. Fifteen (21.4%) were classified as normal and 3 (4.3%) had recurrent abdominal pains but did not fulfill all criteria for clinical FMF. Overall, 28 (40.0%) had some form of rheumatic complaint and 15 (21.4%) had developed a rheumatic disease including Behçet's disease, a vasculitis, or acute rheumatic fever. The mean ESR and CRP levels were 45.47 +/- 33.05 mm/h and 4.00 +/- 6.73 mg/dl, respectively. Among the 72 patients with rheumatic diseases of childhood, 22 (30.5%) carried one or 2 mutations of the MEFV gene. The mutated allele frequency among patients with rheumatic diseases was significantly higher than those in controls (p < 0.05). Within this group, among the 59 patients with juvenile idiopathic arthritis 15 had mutations in the heterozygous or homozygous form.
We confirm the acute phase response in the carriers for MEFV mutations. We suggest that these patients may have a tendency to develop certain manifestations due to an increased baseline of inflammation, and the presence of these mutations may affect their disease course when they develop rheumatic disease.
分析70名检测出地中海热（MEFV）基因的个体，以确定是否存在明确的家族性地中海热（FMF），并评估他们是否易于出现临床和实验室炎症。我们还前瞻性地评估了72例儿童风湿性疾病患者是否存在MEFV突变。
使用一套新的标准，对70例携带一个MEFV基因突变的患者重新评估是否存在临床FMF表型。询问他们是否存在肌肉骨骼症状和风湿性疾病。采集他们的红细胞沉降率和C反应蛋白水平样本。另一组儿童风湿性疾病患者根据国际标准进行诊断。
70名杂合子个体的中位年龄为12岁。根据建议标准，约1/3（34.3%）被归类为临床FMF表型。15名（21.4%）被归类为正常，3名（4.3%）有反复腹痛但未满足临床FMF的所有标准。总体而言，28名（40.0%）有某种形式的风湿性主诉，15名（21.4%）患有一种风湿性疾病，包括白塞病、血管炎或急性风湿热。平均红细胞沉降率和C反应蛋白水平分别为45.47±33.05mm/h和4.00±6.73mg/dl。在72例儿童风湿性疾病患者中，22例（30.5%）携带一个或两个MEFV基因突变。风湿性疾病患者中的突变等位基因频率显著高于对照组（p<0.05）。在这组患者中，59例幼年特发性关节炎患者中有15例存在杂合或纯合形式的突变。
我们证实了MEFV突变携带者的急性期反应。我们认为，由于炎症基线升高，这些患者可能有出现某些表现的倾向，并且这些突变的存在可能在他们患风湿性疾病时影响其病程。
