Familial Mediterranean Fever in Japan
Familial Mediterranean Fever in Japan
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DOI：
10.1097/md.0b013e318277cf75
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发表时间：
2012-11-01
期刊：
影响因子：
1.6
通讯作者：
Agematsu, Kazunaga
中科院分区：
文献类型：
--
作者：
Migita, Kiyoshi;Uehara, Ritei;Agematsu, Kazunaga
家族性地中海热(FMF)是一种在地中海人群中流行的遗传性自身炎症性疾病。虽然它在世界其他地区被认为是一种罕见的疾病，但包括日本在内的东亚地区已经报告了相当数量的FMF患者。我们的目的是确定FMF在日本的患病率，并阐明日本患者的临床和基因特征。2009年1月至12月期间进行了一次全国范围内的FMF初步调查。儿科专科医院和设有儿科、内科和风湿科/过敏科的医院被要求在调查年度报告所有FMF患者。估计日本FMF患者总数为292人(95%可信区间为187-398人)。我们从134名FMF患者的二次调查中获得的数据评估了日本患者的临床和基因特征。高热占95.5%，胸痛(胸膜炎症状)占36.9%，腹痛(腹膜炎症状)占62.7%，关节炎占31.3%。在被描述的患者中，25.4%的患者在10岁之前首次发作，37.3%的患者在青少年时期，37.3%的患者在20岁之后。秋水仙碱在相对较低剂量(平均剂量为0.89+/-0.45 mg/d)时有效率为91.8%。5例(3.7%)确诊为AA淀粉样变性。在研究的126例患者中，109例(86.5%)检测到1种或1种以上的基因突变，17例(13.5%)未检测到突变。常见地中海热基因(MEFV)突变为E148Q/M694I(19.8%)和M694I/正常(12.7%)。MEFV外显子10突变的FMF患者与无外显子10突变的FMF患者相比，腹膜炎、胸膜炎和FMF家族史的患病率差异有统计学意义。结论，日本存在大量FMF患者。尽管日本的FMF患者在临床或基因上与地中海患者不同，但延误诊断是一个应该解决的问题。
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is prevalent in Mediterranean populations. While it is considered a rare disease in the rest of world, a significant number of FMF patients have been reported in East Asia, including Japan. Our aim was to determine the prevalence of FMF in Japan and elucidate the clinical and genetic features of Japanese patients. A primary nationwide survey of FMF was conducted between January and December 2009. Hospitals specializing in pediatrics and hospitals with pediatric, internal medicine, and rheumatology/allergy departments were asked to report all patients with FMF during the survey year. The estimated total number of Japanese FMF patients was 292 (95% confidence interval, 187-398 people). We evaluated the clinical and genetic profiles of Japanese patients from the data obtained in a secondary survey of 134 FMF patients. High-grade fever was observed in 95.5%, chest pain (pleuritis symptoms) in 36.9%, abdominal pain (peritonitis symptoms) in 62.7%, and arthritis in 31.3%. Of the patients profiled, 25.4% of patients experienced their first attack before 10 years of age, 37.3% in their teens, and 37.3% after age 20 years. Colchicine was effective in 91.8% of patients at a relatively low dose (mean dose, 0.89 +/- 0.45 mg/d). AA amyloidosis was confirmed in 5 patients (3.7%). Of the 126 patients studied, 109 (86.5%) were positive for 1 or more genetic mutations and 17 (13.5%) had no mutation detected. Common Mediterranean fever gene (MEFV) mutations were E148Q/M694I (19.8%) and M694I/normal (12.7%). The differences in the prevalence of peritonitis, pleuritis, and a family history of FMF were statistically significant between FMF patients with MEFV exon 10 mutations compared with those without exon 10 mutations.In conclusion, a significant number of patients with FMF exist in Japan. Although Japanese patients with FMF are clinically or genetically different from Mediterranean patients, the delay in diagnosis is an issue that should be resolved.