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患者的神经系统表现较为罕见,临床中易忽视其与基因突变的联系。本文针对FMF的重要神经系统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。
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.As neurological manifestations are rare in patients with FMF,the association be⁃tween the two is often overlooked in clinical practice.In this paper,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.
作者
董耀华
宋红梅
DONG Yaohua;SONG Hongmei(Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)
出处
《协和医学杂志》
CSCD
2023年第2期334-338,共5页
Medical Journal of Peking Union Medical College Hospital
基金
国家重点研发计划(2021YFC2702001)
北京市自然科学基金(L202050)。
关键词
家族性地中海热
神经系统临床表现
基因型
familial Mediterranean fever
neurological manifestations
genotype
