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家族性地中海热的神经系统临床表现

董耀华,  宋红梅

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文章导航 > 协和医学杂志  > 2022 > 优先出版
董耀华, 宋红梅. 家族性地中海热的神经系统临床表现[J]. 协和医学杂志. doi: 10.12290/xhyxzz.2022-0093
引用本文: 董耀华, 宋红梅. 家族性地中海热的神经系统临床表现[J]. 协和医学杂志. doi: 10.12290/xhyxzz.2022-0093
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DONG Yaohua, SONG Hongmei. Neurological Manifestations in Familial Mediterranean Fever[J]. Medical Journal of Peking Union Medical College Hospital. doi: 10.12290/xhyxzz.2022-0093
Citation: DONG Yaohua, SONG Hongmei. Neurological Manifestations in Familial Mediterranean Fever[J]. Medical Journal of Peking Union Medical College Hospital. doi: 10.12290/xhyxzz.2022-0093
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家族性地中海热的神经系统临床表现

doi: 10.12290/xhyxzz.2022-0093

  • 中国医学科学院北京协和医院儿科, 北京 100730

基金项目: 

国家重点研发计划(2021YFC2702001)

北京市自然科学基金-海淀原始创新联合基金资助(L202050)

详细信息
    通讯作者:

    宋红梅,E-mail:songhm1021@126.com

  • 中图分类号: R593;R596;R741

Neurological Manifestations in Familial Mediterranean Fever

  • Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

Funds: 

National Key Research and Development Program of China (2021YFC2702001)

Beijing Natural Science Foundation (L202050)

    摘要
  • 摘要: 家族性地中海热(familial Mediterranean fever，FMF)是一种由 MEFV基因突变导致的自身炎症性疾病，主要临床表现为反复发作的发热和全身多处浆膜炎症，部分 FMF患者还可出现神经系统临床表现，如癫痫、脱髓鞘疾病、无菌性脑膜炎等。由于 FMF患者的神经系统临床表现较为罕见，临床中易忽视二者间的联系。本文针对 FMF的重要神经系统临床表现及其与基因型的关系进行阐述，以加深对 FMF的认识，为临床诊疗提供借鉴和参考。
    Abstract: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations of the MEFV gene. The main clinical manifestations are recurrent fever and serous inflammation in various parts of the body. Some patients with FMF may also develop neurological manifestations such as epilepsy， demyelinating disease， aseptic meningitis and so on. Since neurological manifestations are rare in patients with FMF， the association between the two is often overlooked in clinical practice. We reviewed the neurological manifestations of FMF and their relationship with genotypes， so as to deepen the understanding of the clinical manifestations of FMF and provide help for the diagnosis and treatment of patients with neurological manifestations.
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    • 参考文献(40)
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出版历程
  • 收稿日期:  2022-03-01
  • 修回日期:  2022-03-21
  • 网络出版日期:  2022-10-12

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