Division of Rheumatology, Department of Internal Medicine, The Hospital for Rheumatic disease, Hanyang University School of Medicine, Seoul, Korea.
Clin Exp Rheumatol. 2013 May-Jun;31(3 Suppl 77):60-3. Epub 2013 Sep 9.
Adult-onset Still's disease (AOSD) and periodic fever syndrome share clinical features in some aspects. Familial Mediterranean fever (MEFV) is a typical periodic fever syndrome and MEFV gene mutations may contribute to the clinical features of certain rheumatic diseases. The purpose of this study is to research the incidence and clinical utility of MEFV gene mutations in Korean AOSD patients.
The study included 96 AOSD patients and 165 healthy controls. In both groups, genomic DNA was isolated and genotyped using restriction fragment length polymorphism for 5 MEFV gene mutations (E148Q, P369S, M680I, V726A and M694V). In the AOSD patients, the clinical significance of MEFV mutation was assessed by the laboratory and clinical features.
M680I, V726A and M694V were not found in both groups. P369S was detected in 7 (7.3%) AOSD patients and 10 (6.1%) healthy controls. E148Q mutation was found in 77 (46.7%) among healthy controls with 6 QQ and 44 (45.8%) of AOSD patients with 5 QQ, respectively. The allele frequency of E148Q was 0.25 in AOSD patients, and that of P369S was 0.04. However, there was no significant difference in most clinical manifestations and laboratory findings by the presence and absence of E148Q mutation.
MEFV mutations including E148Q mutation were not associated with the development of AOSD patients in Korea. Although high incidence of E148Q mutation was found, E148Q mutation did not show major effect on the clinical features of AOSD. But we need to look for association with clinical response to certain treatments and long-term prognosis.
成人Still 病（AOSD）和周期性发热综合征在某些方面具有相似的临床特征。家族性地中海热（MEFV）是一种典型的周期性发热综合征，MEFV 基因突变可能导致某些风湿性疾病的临床特征。本研究旨在研究韩国 AOSD 患者 MEFV 基因突变的发生率和临床意义。
该研究纳入了 96 例 AOSD 患者和 165 名健康对照者。在两组人群中，均使用限制性片段长度多态性方法分离并检测 MEFV 基因的 5 个突变（E148Q、P369S、M680I、V726A 和 M694V）。在 AOSD 患者中，通过实验室和临床特征评估 MEFV 突变的临床意义。
两组人群均未发现 M680I、V726A 和 M694V 突变。P369S 突变在 7 例（7.3%）AOSD 患者和 10 例（6.1%）健康对照者中被检出。E148Q 突变在 77 名（46.7%）健康对照者中为 6QQ 基因型，44 例（45.8%）AOSD 患者中为 5QQ 基因型。AOSD 患者 E148Q 等位基因频率为 0.25，P369S 等位基因频率为 0.04。然而，E148Q 突变的有无与 AOSD 患者的大多数临床表现和实验室检查结果无显著差异。
包括 E148Q 突变在内的 MEFV 突变与韩国 AOSD 患者的发病无关。尽管 E148Q 突变的发生率较高，但 E148Q 突变对 AOSD 的临床特征没有显著影响。但我们需要寻找与某些治疗方法的临床反应和长期预后的相关性。
