From the Department of Pediatrics, Division of Pediatric Rheumatology, Ankara University School of Medicine, Ankara, Turkey.
Department of Pediatric Rheumatology, Ankara, Child Health, Hematology and Oncology Education and Research Hospital, Ankara, Turkey.
QJM. 2017 May 1;110(5):287-290. doi: 10.1093/qjmed/hcw230.
MEditerranean FeVer (MEFV) gene encodes for the pyrin protein and a mutated pyrin is associated with a prolonged or augmented inflammation. Hence, various diseases were reported to be associated with familial Mediterranean fever (FMF) or carriers of MEFV mutations. However, systematic evaluation of all associated diseases in children with FMF has not been done previously.
The aim of this study was to investigate the frequency and type of FMF-associated diseases in children.
Files of FMF patients who had been seen in two reference hospitals in Ankara, in the last two years, were retrospectively evaluated. Patients with FMF and concomitant diseases were included to the study.
Among 600 FMF patients, 77 were found to have a concomitant disease (12.8%). Thirty patients (5%) had vasculitis; 21 (3.5%) had juvenile idiopathic artritis (JIA); 7 (1.16%) had inflammatory bowel disease (IBD) and 19 had other diseases including 5 patients with isolated sacroiliitis. Overall, 13 (2.17%) patients had sacroiliitis in our cohort. The most frequent mutation was M694V/M694V (44%) and 81% of the patients had at least one M694V mutation. Majority of the patients (74%) developed associated diseases while they were not receiving colchicine therapy.
Certain inflammatory diseases including vasculitis, chronic arthritis and IBD were more frequently detected in patients with FMF during childhood. M694V mutation is a susceptibility factor for associated diseases. In countries where FMF is prevalent, clinicians dealing with FMF and other inflammatory diseases should be aware of these associations.
MEditerranean FeVer（MEFV）基因编码 pyrin 蛋白，突变的 pyrin 与炎症的延长或增强有关。因此，各种疾病被报道与家族性地中海热（FMF）或 MEFV 突变携带者有关。然而，以前尚未对 FMF 患儿中所有相关疾病进行系统评估。
本研究旨在调查儿童中 FMF 相关疾病的频率和类型。
回顾性评估了过去两年在安卡拉的两家参考医院就诊的 FMF 患者的档案。将患有 FMF 且伴有其他疾病的患者纳入研究。
在 600 名 FMF 患者中，发现有 77 名患者（12.8%）同时患有其他疾病。30 名患者（5%）患有血管炎；21 名（3.5%）患有幼年特发性关节炎（JIA）；7 名（1.16%）患有炎症性肠病（IBD），19 名患者患有其他疾病，包括 5 名孤立性骶髂关节炎患者。总体而言，在我们的队列中，有 13 名（2.17%）患者患有骶髂关节炎。最常见的突变是 M694V/M694V（44%），81%的患者至少有一种 M694V 突变。在未接受秋水仙碱治疗的情况下，大多数患者（74%）出现了相关疾病。
在儿童期，某些炎症性疾病，包括血管炎、慢性关节炎和 IBD，在 FMF 患者中更为常见。M694V 突变是相关疾病的易感因素。在 FMF 流行的国家，处理 FMF 和其他炎症性疾病的临床医生应该意识到这些关联。
