Pediatric Department, Bouali Children's Hospital, Ardabil University of Medical Sciences (ARUMS), No 105 Shahrak Azadi, Azerbaijan Streets, Ardabil, 56157, Iran.
Pediatr Rheumatol Online J. 2019 Jun 6;17(1):28. doi: 10.1186/s12969-019-0329-2.
Relapsing periodic arthritis is a general term used for a group of diseases with recurring and periodic nature, in which the joints are intermittently involved. The aim of this study is to evaluation of the possible relationship between MEFV gene mutations in intermittent arthritis of children which has recurring and periodic nature.
In this cross-sectional study we reviewed medical records of all patients with recurrent and periodic arthritis referred to pediatric rheumatology clinic from 2003 to 2019.We excluded all patients with suspicious anamnesis and/or positive history of FMF, JIA, gout, psoriasis, IBD and SLE. The peripheral blood of these patients was screened for the 12 common pathogenic MEFV gene variants (FMF Strip Assay, Vienna lab, Vienna, Austria) according to manufacturer's instructions.
Among 195 recorded files, 11 patients were identified with idiopathic recurrent and periodic feature. 3 patients suffering from recurrent transient synovitis hip (RSH) and 8 patients were fully compatible with the Pasero and Barbieri modified criteria of palindromic rheumatism (PR). Their mean age at diagnosis was 6.5 and 4.6 years and the average follow-up was 2.6 and 6.6 years in PR and RSH patients, respectively. The most frequently involved joints were knees and ankles in PR patients. The mean duration of attacks was 3.3 days in RSH patients and with various courses in PR. The median number of attacks was 4.75 in PR and 3 in RSH patients per year. In PR group 7 patients showed no mutations and all patients of RSH had these mutations; V726A, R761H, A744S as in heterozygote pattern.
An idiopathic relapsing periodic arthritis in children with exclusively hip involvement is a MEFV gene related arthropathy; whereas with various joint attacks it could be considered as childhood PR.
复发性周期性关节炎是一组具有反复发作和周期性特征的疾病的总称，其中关节间歇性受累。本研究的目的是评估儿童间歇性关节炎中 MEFV 基因突变与反复发作和周期性之间的可能关系。
在这项横断面研究中，我们回顾了 2003 年至 2019 年期间儿科风湿病诊所就诊的所有具有复发性和周期性关节炎的患者的病历。我们排除了所有有可疑病史和/或阳性家族史的患者，包括 FMF、JIA、痛风、银屑病、IBD 和 SLE。根据制造商的说明，使用 12 种常见致病性 MEFV 基因突变（FMF Strip Assay，维也纳实验室，维也纳，奥地利）对这些患者的外周血进行筛查。
在 195 份记录的文件中，确定了 11 例具有特发性复发性和周期性特征的患者。3 例患者患有复发性短暂性髋关节滑膜炎（RSH），8 例患者完全符合 Pasero 和 Barbieri 修改的周期性风湿症（PR）标准。他们的诊断年龄平均为 6.5 岁和 4.6 岁，PR 和 RSH 患者的平均随访时间分别为 2.6 年和 6.6 年。PR 患者最常受累的关节是膝盖和脚踝。RSH 患者的平均发作持续时间为 3.3 天，PR 患者的发作持续时间各不相同。PR 患者每年发作次数中位数为 4.75 次，RSH 患者为 3 次。PR 组 7 例患者无突变，所有 RSH 患者均有这些突变；V726A、R761H、A744S 为杂合子模式。
儿童特发性复发性周期性关节炎，仅髋关节受累，是一种 MEFV 基因相关的关节病；而具有各种关节发作的关节炎可能被认为是儿童 PR。
