A retrospective analysis of 7 cases of familial mediterranean fever.

Chie Ogita, Kiyoshi Matsui, Dai Kisida, Masahide Yazaki, Akinori Nakamura, Satosi Kaku, Hidehiko Makino, Rei Tadokoro, Kouta Azuma, Kazuyuki Tsuboi, Mei Tani, Masao Tamura, Takahiro Yoshikawa, Mai Morimoto, Aki Nishioka, Masahiro Sekiguchi, Naoto Azuma, Masayasu Kitano, Shinichiro Tsunoda, Hideaki Sawai, Hajime Sano
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引用次数: 4

Abstract

Background: Familial mediterranean fever (FMF) is a single inherited autoinflammatory disease characterized by periodic fever with relatively short duration of 1 to 3 days and sterile serositis. Although the prevalence rate is highest in the Mediterranean coastal area, a large number of cases have been reported recently by genetic analysis by identification of MEFV (Mediterranean fever) which is responsible gene in Japan too. In outpatient department of rheumatology, diagnosis and treatment of FMF is performed in cases where fever and abdominal pain attack are repeated for a short period of time.

Patients and methods: We examined cases in which symptoms considered periodic seizures were repeated, excluding autoimmune diseases, infectious diseases, and malignant tumors. In both cases, genetic analysis is performed as auxiliary diagnosis.

Results: Seven cases satisfied the Tel-Hashomer criteria criteria and MEFV gene mutation was detected. Everyone was a female, and half had seizure symptoms at menstruation. Even though there is a difference in the amount of colchicine to be used, either one is effective.

Conclusion: In cases of periodic symptoms or cases called periodic fever, exclusion diagnosis is carried out, there is a need to suspect FMF, determine the effect of colchicine, and perform genetic analysis.

家族性地中海热7例回顾性分析。
背景:家族性地中海热(FMF)是一种单一的遗传性自身炎症性疾病,其特征是周期性发热,持续时间相对较短,为1 ~ 3天,并发无菌浆液炎。虽然流行率在地中海沿岸地区最高,但最近通过基因分析鉴定出MEFV(地中海热)报告了大量病例,该基因在日本也是负责基因。在风湿病门诊部,FMF的诊断和治疗是在短时间内反复出现发烧和腹痛的病例中进行的。患者和方法:我们检查了反复出现周期性发作症状的病例,排除了自身免疫性疾病、传染病和恶性肿瘤。在这两种情况下,遗传分析作为辅助诊断进行。结果:7例符合Tel-Hashomer标准,检测到MEFV基因突变。每个人都是女性,一半人在月经期间有癫痫发作的症状。尽管秋水仙碱的用量不同,但两者都是有效的。结论:对于周期性症状或周期性发热的病例,应进行排除诊断,有必要怀疑FMF,确定秋水仙碱的作用,并进行遗传分析。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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