Makino Toshiyuki, Ohara Yoshitatsu, Kobayashi Namiko, Kono Yohei, Nomizu Ayumu, Ichijo Mariko, Mori Yutaro, Matsui Noriaki, Kishida Dai, Toda Takayuki
Department of Nephrology, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan.
Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.
Hemodial Int. 2018 Apr;22(2):E19-E22. doi: 10.1111/hdi.12628. Epub 2018 Jan 18.
Familial Mediterranean Fever (FMF) is usually an autosomal recessive autoinflammatory disease characterized by recurrent attacks of fever and serositis. FMF develops before the age of 20 years in 90% of patients. It has intervals of 1 week to several years between attacks, which leads to renal dysfunction-amyloidosis. We report a case of atypical FMF that developed in a long-term hemodialysis patient. A 65-year-old Japanese female undergoing hemodialysis for 32 years was referred to our hospital with a fever of unknown origin (FUO) following cervical laminoplasty. The fever occurred as recurrent attacks accompanied by oligoarthralgia of the left hip and knee. We suspected FMF because of recurrent self-limited febrile attacks, although the patient showed atypical clinical features such as late-onset and highly frequent attacks. After receiving treatment, she achieved a complete response to colchicine. Therefore, a diagnosis of FMF was made based on the Tel-Hashomer criteria, which was confirmed by genetic testing. The case suggests that FMF may be of note in long-term hemodialysis patients developing FUO.
家族性地中海热（FMF）通常是一种常染色体隐性自身炎症性疾病，其特征为发热和浆膜炎反复发作。90%的患者在20岁之前发病。发作间期为1周数年不等，可导致肾功能不全-淀粉样变性。我们报告1例长期血液透析患者发生的非典型FMF病例。1名65岁日本女性，接受血液透析32年，因颈椎板成形术后不明原因发热（FUO）转诊至我院。发热呈反复性发作，伴有左髋和膝关节少关节炎。尽管该患者表现出诸如发病较晚和发作频繁等非典型临床特征，但鉴于反复自限性发热发作，我们怀疑为FMF。治疗后，她对秋水仙碱完全缓解。因此，根据Tel-Hashomer标准作出FMF诊断，基因检测予以证实。该病例提示，在发生FUO的长期血液透析患者中，FMF可能值得关注。
