家族性地中海热的神经系统临床表现

董耀华; 宋红梅

doi:10.12290/xhyxzz.2022-0093

家族性地中海热的神经系统临床表现

doi: 10.12290/xhyxzz.2022-0093

董耀华,
宋红梅^,

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 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
计量
- 文章访问数: 2222
- HTML全文浏览量: 43
- PDF下载量: 50
- 被引次数: 0
出版历程
- 收稿日期: 2022-03-01
- 录用日期: 2022-03-21
- 网络出版日期: 2022-10-06
- 刊出日期: 2023-03-30

Neurological Manifestations in Familial Mediterranean Fever

DONG Yaohua,
SONG Hongmei^,

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

More Information

Corresponding author: SONG Hongmei, E-mail: songhm1021@126.com

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。
- 家族性地中海热 /
- 神经系统临床表现 /
- 基因型
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. As neurological manifestations are rare in patients with FMF, the association between 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.
- familial Mediterranean fever /
- neurological manifestations /
- genotype
注释:

作者贡献：董耀华负责查阅文献资料、撰写论文；宋红梅负责指导论文撰写、提出修改意见。

利益冲突：所有作者均声明不存在利益冲突

HTML全文

参考文献(38)

[1]	Ozen S. Update in familial Mediterranean fever[J]. Curr Opin Rheumatol, 2021, 33: 398-402. doi: 10.1097/BOR.0000000000000821
[2]	Bhatt H, Cascella M. Familial Mediterranean Fever[M]. In StatPearls, StatPearls Publishing, 2022.
[3]	Shinar Y, Ceccherini I, Rowczenio D, et al. ISSAID/EMQN Best practice guidelines for the genetic diagnosis of Monognenic AIDs in the next generaion sequencing era[J]. Clin Chem, 2020, 66: 525-536. doi: 10.1093/clinchem/hvaa024
[4]	Gedalia A, Zamir S. Neurologic manifestations in familial Mediterranean fever[J]. Pediatr Neurol, 1993, 9: 301-302. doi: 10.1016/0887-8994(93)90068-N
[5]	Ertekin V, Selimoglu MA, Pirim I. Familial Mediterranean fever in a childhood population in eastern Turkey[J]. Pediatr Int, 2005, 47: 640-644. doi: 10.1111/j.1442-200x.2005.02140.x
[6]	Canpolat M, Gumus H, Gunduz Z, et al. Neurological Manifestations in Familial Mediterranean Fever: Results of 22 Children from a Reference Center in Kayseri, an Urban Area in Central Anatolia, Turkey[J]. Neuropediatrics, 2017, 48: 79-85.
[7]	Canpolat M, Kumandas S, Poyrazoglu HG, et al. Preval-ence and risk factors of epilepsy among school children in Kayseri City Center, an urban area in Central Anatolia, Turkey[J]. Seizure, 2014, 23: 708-716. doi: 10.1016/j.seizure.2014.05.012
[8]	Salehzadeh F, Azami A, Motezarre M, et al. Neurological Manifestations in Familial Mediterranean Fever: a Genotype-Phenotype Correlation Study[J]. Open Access Rheumatol, 2020, 12: 15-19. doi: 10.2147/OARRR.S238649
[9]	World Health Organization. Epilepsy in the WHO Eastern Mediterranean region: bridging the gap[EB/OL].[2022-03-01]. https://apps.who.int/iris/handle/10665/119905.
[10]	Çomak E, Tüfekçi Ö, Kiliçbay F, et al. Febrile seizures in children with familial Mediterranean fever: Coincidence or association?[J]. Eur J Paediatr Neurol, 2015, 19: 572-576. https://www.cnki.com.cn/Article/CJFDTOTAL-SYYZ202117014.htm
[11]	Carman KB, Ekici A, Yimenicioglu S, et al. The preval-ence of febrile seizure and associated factors among Turkish children[J]. Int J Clin Pediatr, 2014, 3: 1-4.
[12]	Okan N, Okan M, Eralp O, et al. The prevalence of neurological disorders among children in Gemlik (Turkey)[J]. Dev Med Child Neurol, 1995, 37: 597-603.
[13]	Yakinci C, Kutlu NO, Durmaz Y, et al. Prevalence of febrile convulsion in 3637 children of primary school age in the province of Malatya[J]. Turk J Trop Pediatr, 2000, 46: 249-250. doi: 10.1093/tropej/46.4.249
[14]	Özen F, Kocak N, Kelekci S, et al. The prevalence of Familial Mediterranean Fever common gene mutations in patients with simple febrile seizures[J]. Eur Rev Med Pharmacol Sci, 2014, 18: 657-660.
[15]	Biro O, Gileles-Hillel A, Dor-Wollman T, et al. Neurological and neurodevelopmental symptoms in children with familial Mediterranean fever and their siblings[J]. Eur J Pediatr, 2022, 181: 973-978. doi: 10.1007/s00431-021-04286-7
[16]	Akman-Demir G, Gul A, Gurol E, et al. Inflammatory/demyelinating central nervous system involvement in familial Mediterranean fever (FMF): coincidence or association?[J] J Neurol, 2006, 253: 928-934. doi: 10.1007/s00415-006-0137-8
[17]	Unal A, Dursun A, Emre U, et al. Evaluation of common mutations in the Mediterranean fever gene in Multiple Sclerosis patients: is it a susceptibility gene?[J]. J Neurol Sci, 2010, 294: 38-42. doi: 10.1016/j.jns.2010.04.008
[18]	Shinar Y, Livneh A, Villa Y, et al. Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients[J]. Genes Immun, 2003, 4: 197-203. doi: 10.1038/sj.gene.6363967
[19]	Kalyoncu U, Eker A, Oguz KK, et al. Familial Mediterranean fever and central nervous system involvement: a case series[J]. Medicine, 2010, 89: 75-84. doi: 10.1097/MD.0b013e3181d5dca7
[20]	Yahalom G, Kivity S, Lidar M, et al. Familial Mediterranean fever (FMF) and multiple sclerosis: an association study in one of the world's largest FMF cohorts[J]. Eur J Neurol, 2011, 18: 1146-1150. doi: 10.1111/j.1468-1331.2011.03356.x
[21]	Furlan R, Filippi M, Bergami A, et al. Peripheral levels of caspase-1 mRNA correlate with disease activity in patients with multiple sclerosis; a preliminary study[J]. J Neurol Neurosurg Psychiatry, 1999, 67: 785-788. doi: 10.1136/jnnp.67.6.785
[22]	Elhani I, Dumont A, Vergneault H, et al. Association between familial Mediterranean fever and multiple sclerosis: A case series from the JIR cohort and systematic literature review[J]. Mult Scler Relat Disord, 2021, 50: 102834. doi: 10.1016/j.msard.2021.102834
[23]	Karachaliou I, Karachalios G, Charalabopoulos A, et al. Meningitis associated with familial Mediterranean fever[J]. Int J Clin Pract Suppl, 2005, 147: 60-61.
[24]	Schwabe AD, Monroe JB. Meningitis in familial Mediterranean fever[J]. Am J Med, 1988, 85: 715-717. doi: 10.1016/S0002-9343(88)80248-1
[25]	Barakat MH, Mustafa HT, Shakir RA. Mollaret's meningitis. A variant of recurrent hereditary polyserositis, both provoked by metaraminol[J]. Arch Neurol, 1988, 45: 926-927. doi: 10.1001/archneur.1988.00520320128030
[26]	Feld O, Yahalom G, Livneh A. Neurologic and other systemic manifestations in FMF: published and own experience[J]. Best Pract Res Clin Rheumatol, 2012, 26: 119-133.
[27]	李栋方, 唐文婷, 邱坤银, 等. 一个常染色体显性遗传型地中海热家系的临床及遗传学分析[J]. 中华医学遗传学杂志, 2021, 38: 719-722. doi: 10.3760/cma.j.cn511374-20200318-00175
[28]	Friedman DI, Jacobson DM. Diagnostic criteria for idiopathic intracranial hypertension[J]. Neurology, 2002, 59: 1492.
[29]	Gökalp HZ, Başkaya MK, Aydin V. Pseudotumor cerebri with familial Mediterranean fever[J]. Clin Neurol Neurosurg, 1992, 94: 261-263. doi: 10.1016/0303-8467(92)90101-8
[30]	Fischer M, Schmutzhard E. Posterior reversible encephalopathy syndrome[J]. J Neurol, 2017, 264: 1608-1616. doi: 10.1007/s00415-016-8377-8
[31]	Aksoy DY, Arici M, Kiykim AA, et al. Posterior leukoencephalopathy and nephrotic syndrome: just a coincidence?[J]. Am J Med Sci, 2004, 327: 156-159. doi: 10.1097/00000441-200403000-00008
[32]	Bartynski WS. Posterior reversible encephalopathy syndrome, part 2: controversies surrounding pathophysiology of vasog-enic edema[J]. AJNR Am J Neuroradiol, 2008, 29: 1043-1049. doi: 10.3174/ajnr.A0929
[33]	Ulaşli AM, Kutlu G, Kocatürk Ö, et al. Posterior reversible encephalopathy during an attack of familial Mediterranean fever[J]. Rheumatol Int, 2012, 32: 1779-1781. doi: 10.1007/s00296-010-1388-3
[34]	Abbara S, Grateau G, Ducharme-Bénard S, et al. Association of Vasculitis and Familial Mediterranean Fever[J]. Front Immunol, 2019, 10: 763. doi: 10.3389/fimmu.2019.00763
[35]	Nussinovitch U, Volovitz B, Nussinovitch M, et al. Abnormal heart rate variability in AA amyloidosis of familial Mediterranean fever[J]. Amyloid, 2011, 18: 206-210.
[36]	Lavi E, Maree A, Eisenstein EM, et al. Increased prevalence of attention-deficit hyperactivity disorder symptomato-logy in patients with familial Mediterranean fever[J]. Mod Rheumatol, 2022, 32: 422-426. doi: 10.1093/mr/roab009
[37]	Wilbur K, Makowsky M. Colchicine myotoxicity: case reports and literature review[J]. Pharmacotherapy, 2004, 24: 1784-1792. doi: 10.1592/phco.24.17.1784.52334
[38]	Ben-Chetrit E, Backenroth R. Amyloidosis induced, end stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene[J]. Ann Rheum Dis, 2001, 60: 146-149. doi: 10.1136/ard.60.2.146

施引文献

资源附件(0)

访问统计

点击查看大图

计量

文章访问数: 2222
HTML全文浏览量: 43
PDF下载量: 50
被引次数: 0

姓名
邮箱
手机号码
标题
留言内容
验证码

地址：	北京市东城区帅府园1号北京协和医院老楼7号楼 3层302室《协和医学杂志》编辑部
电话：	010-69154261/4262
E - mail：	medj@pumch.cn mjpumch@126.com
期刊网站版权所有：	《协和医学杂志》编辑部京ICP备 11002662

留言板

家族性地中海热的神经系统临床表现

doi: 10.12290/xhyxzz.2022-0093

通讯作者:
宋红梅, E-mail：songhm1021@126.com

计量

Neurological Manifestations in Familial Mediterranean Fever

Corresponding author: SONG Hongmei, E-mail: songhm1021@126.com

计量

目录

留言板

家族性地中海热的神经系统临床表现

doi: 10.12290/xhyxzz.2022-0093

通讯作者: 宋红梅, E-mail：songhm1021@126.com

计量

出版历程

Neurological Manifestations in Familial Mediterranean Fever

Corresponding author: SONG Hongmei, E-mail: songhm1021@126.com

计量

出版历程

目录

通讯作者:
宋红梅, E-mail：songhm1021@126.com