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摘要: 家族性地中海热(familial Mediterranean fever, FMF)为一种遗传性自身炎症性疾病, 临床表现以周期性发热、腹痛、关节炎、浆膜炎等为特点, 发病人群多集中于地中海地区, 起病年龄多在20岁以前。本文报道一例成年后起病的FMF中国病例, 分析其临床表现、实验室检查结果、基因突变情况及治疗结局。Abstract: Familial Mediterranean fever (FMF) is a kind of genetic autoinflammatory diseases, characterized with periodic fever, abdominal pain, arthritis and serositis. FMF is commonly seen in Mediterranean area and the onset of disease is mostly before 20 years old. Here we report a Chinese FMF patient who presented with typical syndromes after adulthood. The clinical manifestations, laboratory results, genetic mutations and therapeutic responses are presented and discussed in detail.
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表 1 FMF临床诊断标准*
主要标准 次要标准 辅助标准 有腹膜炎(弥漫性)典型发作 不完全发作性胸痛 FMF家族史 有胸膜炎(单侧)或心包炎典型发作 不完全发作性腹痛 FMF好发人种 有单关节炎(髋、膝、踝)典型发作 不完全发作性单关节痛 起病 < 20岁 仅有发热症状的典型发作 劳力性下肢痛 发作时症状严重, 需卧床 秋水仙碱治疗反应好 发作症状自行缓解 发作间期无症状 发作时一过性炎症反应证据, 如血白细胞、红细胞沉降率、血清淀粉样蛋白、纤维蛋白原升高等 间断蛋白尿/血尿 腹腔镜探查阴性或切除正常阑尾 父母近亲结婚 FMF:家族性地中海热; *临床诊断需满足≥1条主要标准或≥2条次要标准，不完全发作指有疼痛及反复发作症状但未达到典型发作标准 
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