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成人起病的家族性地中海热一例

刘鑫 李玥 张智旸 王莉瑛 钱家鸣

刘鑫, 李玥, 张智旸, 王莉瑛, 钱家鸣. 成人起病的家族性地中海热一例[J]. 协和医学杂志, 2017, 8(4-5): 316-320. doi: 10.3969/j.issn.1674-9081.2017.05.023
引用本文: 刘鑫, 李玥, 张智旸, 王莉瑛, 钱家鸣. 成人起病的家族性地中海热一例[J]. 协和医学杂志, 2017, 8(4-5): 316-320. doi: 10.3969/j.issn.1674-9081.2017.05.023
Xin LIU, Yue LI, Zhi-yang ZHANG, Li-ying WANG, Jia-ming QIAN. A Case of an Adult-Onset Familial Mediterranean Fever[J]. Medical Journal of Peking Union Medical College Hospital, 2017, 8(4-5): 316-320. doi: 10.3969/j.issn.1674-9081.2017.05.023
Citation: Xin LIU, Yue LI, Zhi-yang ZHANG, Li-ying WANG, Jia-ming QIAN. A Case of an Adult-Onset Familial Mediterranean Fever[J]. Medical Journal of Peking Union Medical College Hospital, 2017, 8(4-5): 316-320. doi: 10.3969/j.issn.1674-9081.2017.05.023

成人起病的家族性地中海热一例

doi: 10.3969/j.issn.1674-9081.2017.05.023
详细信息
    通讯作者:

    李玥  电话:010-69155017,E-mail:yuelee76@gmail.com

  • 中图分类号: R57

A Case of an Adult-Onset Familial Mediterranean Fever

More Information
  • 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。
  • 图  1  MEFV基因2080位A > G突变(M694V)

    图  2  MEFV基因443位A > T突变(E148V)

    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
    下载: 导出CSV
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出版历程
  • 收稿日期:  2016-10-09
  • 刊出日期:  2017-09-30

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