Department of Pediatrics, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
Semin Arthritis Rheum. 2011 Apr;40(5):467-72. doi: 10.1016/j.semarthrit.2010.06.009. Epub 2010 Sep 9.
Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy (PFAPA) syndrome is a sporadic disease, characterized by periodic attacks of inflammation. Mutations in the MEFV, the gene associated with familial Mediterranean fever (FMF), may lead to subclinical inflammation in asymptomatic carriers and modify the phenotype of some inflammatory diseases. We aimed at investigating the effect of MEFV gene mutations on disease phenotype in PFAPA.
The cohort of this ongoing prospective study consisted of 124 children with PFAPA syndrome, followed in a single referral center, who were tested for MEFV mutations. Demographic data, clinical characteristics, and disease course of 65 PFAPA patients with and 59 without MEFV mutations (M+ and M-, respectively) were compared.
PFAPA attacks in carriers of MEFV mutations were shorter compared with patients without mutations (3.8 ± 1.7 versus 4.8 ± 1.9 days, P < 0.01). The difference was more pronounced in those carrying the M694V mutation. In M+ patients, the rates of patients with regularity of their attacks (49.2%) and oral aphthae (24.6%) were lower, compared with M- patients (74.5% and 43.9%, respectively, P < 0.05 for each of the 2 comparisons). M+ patients needed a lower corticosteroid (beclomethasone) dose to abort the attacks (0.16 ± 0.07mg/kg versus 0.19 ± 0.08, P = 0.028). No differences were observed in all other clinical and laboratory parameters, over a follow-up period of 4.3 years.
In PFAPA, MEFV is a modifier gene associated with an attenuated disease severity.
周期性发热、口疮性口炎、咽炎和淋巴结炎（PFAPA）综合征是一种散发性疾病，其特征为周期性炎症发作。MEFV 基因突变与家族性地中海热（FMF）相关，可能导致无症状携带者的亚临床炎症，并改变某些炎症性疾病的表型。我们旨在研究 MEFV 基因突变对 PFAPA 疾病表型的影响。
这项正在进行的前瞻性研究的队列包括在一家转诊中心接受随访的 124 例 PFAPA 综合征患儿，他们接受了 MEFV 基因突变检测。比较了 65 例 PFAPA 患者（M+）和 59 例无 MEFV 基因突变患者（M-）的人口统计学数据、临床特征和疾病过程。
携带 MEFV 基因突变的 PFAPA 患者的发作时间短于无突变患者（3.8 ± 1.7 天与 4.8 ± 1.9 天，P < 0.01）。携带 M694V 突变的患者差异更为明显。在 M+患者中，发作有规律的患者比例（49.2%）和口腔阿弗他溃疡的比例（24.6%）低于 M-患者（分别为 74.5%和 43.9%，每项比较均 P < 0.05）。M+患者需要较低剂量的皮质类固醇（倍氯米松）来终止发作（0.16 ± 0.07mg/kg 与 0.19 ± 0.08，P = 0.028）。在 4.3 年的随访期间，未观察到其他临床和实验室参数的差异。
在 PFAPA 中，MEFV 是一个与疾病严重程度减弱相关的修饰基因。
