• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

免疫性先天缺陷导致复发性心包炎。

Inborn error of immunity as the cause of recurrent pericarditis.

机构信息

Faculty of Residency, Riga Stradins University, Riga, Latvia.

Paul Stradins Clinical University Hospital, Riga, Latvia.

出版信息

BMJ Case Rep. 2021 May 19;14(5):e241449. doi: 10.1136/bcr-2020-241449.

DOI:10.1136/bcr-2020-241449
PMID:34011672
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8137168/
Abstract

Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by a pyrin dysfunction, leading to uncontrolled interleukin-1 production that triggers the attacks. Here we report a case of a 36-year-old female patient repeatedly admitted to the cardiology ward with recurrent episodes of pericarditis, with intervals of 1 and 2 months between the episodes. During the attacks, chest pain and fever were the only symptoms. Following the administration of steroids and non-steroidal anti-inflammatory drugs, the patient became afebrile. She also had lymphoma and thyroid carcinoma in anamnesis essential for differential diagnosis. Laboratory tests for infection and autoimmune disease were all negative, and the positron emission tomography-CT scan did not reveal lymphoma relapse. Genetic testing revealed a mutation in the gene. It is very rare for pericarditis to be the first and only manifestation of FMF.

摘要

家族性地中海热(FMF)是一种由 pyrin 功能障碍引起的自身炎症性疾病,导致失控的白细胞介素-1 产生,从而引发发作。在这里,我们报告了一例 36 岁女性患者的病例,她因反复发作性心包炎反复入住心内科病房,两次发作之间的间隔为 1 个月和 2 个月。在发作期间,胸痛和发热是唯一的症状。在给予类固醇和非甾体抗炎药后,患者体温恢复正常。她既往还患有淋巴瘤和甲状腺癌,这对鉴别诊断很重要。感染和自身免疫性疾病的实验室检查均为阴性,正电子发射断层扫描-CT 扫描未显示淋巴瘤复发。基因检测显示基因发生突变。心包炎是 FMF 的首发和唯一表现极为罕见。

相似文献

1
Inborn error of immunity as the cause of recurrent pericarditis.免疫性先天缺陷导致复发性心包炎。
BMJ Case Rep. 2021 May 19;14(5):e241449. doi: 10.1136/bcr-2020-241449.
2
Acute pericarditis as the first manifestation of familial Mediterranean fever: a possible relationship with idiopathic recurrent pericarditis.急性心包炎作为家族性地中海热的首发表现:与特发性复发性心包炎的可能关系。
Intern Med. 2014;53(15):1659-63. doi: 10.2169/internalmedicine.53.2064. Epub 2014 Aug 1.
3
[A case of familial Mediterranean fever who complained of periodic fever and abdominal pain diagnosed by MEFV gene analysis].1例通过MEFV基因分析确诊的家族性地中海热患者,主诉周期性发热和腹痛
Nihon Rinsho Meneki Gakkai Kaishi. 2016;39(1):72-7. doi: 10.2177/jsci.39.72.
4
A novel single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report.MEFV基因中的一种新型单变体导致地中海热和白塞病:病例报告。
J Med Case Rep. 2018 Mar 1;12(1):53. doi: 10.1186/s13256-017-1552-4.
5
Familial Mediterranean Fever Is Important in the Differential Diagnosis of Recurrent Aseptic Meningitis in Japan.家族性地中海热在日本复发性无菌性脑膜炎的鉴别诊断中很重要。
Intern Med. 2020 Jan 1;59(1):125-128. doi: 10.2169/internalmedicine.3432-19. Epub 2019 Sep 11.
6
Colchicine-responsive chronic recurrent multifocal osteomyelitis associated with familial Mediterranean fever in the presence of MEFV mutation: A case report.秋水仙碱反应性慢性复发性多灶性骨髓炎伴家族性地中海热,存在 MEFV 突变:病例报告。
Mod Rheumatol Case Rep. 2023 Dec 29;8(1):195-198. doi: 10.1093/mrcr/rxad027.
7
[Recurrent pericarditis in familial Mediterranean fever].[家族性地中海热中的复发性心包炎]
Harefuah. 1995 May 15;128(10):611-2, 672.
8
Cold Exposure Related Fever with an Mediterranean Fever (MEFV) Gene Mutation.与地中海热(MEFV)基因突变相关的冷暴露性发热
Intern Med. 2017 Aug 15;56(16):2233-2236. doi: 10.2169/internalmedicine.8274-16. Epub 2017 Aug 1.
9
Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations.日本五例家族性地中海热:与MEFV突变的关系
Intern Med. 2018 Aug 15;57(16):2425-2429. doi: 10.2169/internalmedicine.0057-17. Epub 2018 Mar 9.
10
Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis.病例报告:儿童期发作的家族性地中海热合并自身免疫性肝炎 1 例
Front Immunol. 2022 Jun 24;13:917398. doi: 10.3389/fimmu.2022.917398. eCollection 2022.

本文引用的文献

1
Efficacy of anakinra for idiopathic and non-idiopathic pericarditis refractory or intolerant to conventional therapy.阿那白滞素治疗常规治疗抵抗或不耐受的特发性和非特发性心包炎的疗效。
Eur Heart J Acute Cardiovasc Care. 2020 Dec;9(8):888-892. doi: 10.1177/2048872619886309. Epub 2020 Mar 11.
2
Prognostic and Diagnostic Significance of Serum High-Sensitivity C-Reactive Protein Level in Patients with Acute Idiopathic Pericarditis.血清高敏C反应蛋白水平在急性特发性心包炎患者中的预后及诊断意义
Isr Med Assoc J. 2019 Nov;21(11):747-751.
3
Primary immunodeficiencies in Central and Eastern Europe-the power of networking Report on the activity of the Jeffrey Modell Foundation Centers Network in Central and Eastern Europe.中东欧的原发性免疫缺陷病——网络的力量 杰弗里·莫德尔基金会中东欧中心网络活动报告。
Immunol Res. 2019 Oct;67(4-5):358-367. doi: 10.1007/s12026-019-09093-9.
4
2019 European League Against Rheumatism/American College of Rheumatology classification criteria for systemic lupus erythematosus.2019 年欧洲抗风湿病联盟/美国风湿病学会系统性红斑狼疮分类标准。
Ann Rheum Dis. 2019 Sep;78(9):1151-1159. doi: 10.1136/annrheumdis-2018-214819. Epub 2019 Aug 5.
5
Update on the epidemiology and disease outcome of Familial Mediterranean fever.家族性地中海热的流行病学和疾病转归更新。
Best Pract Res Clin Rheumatol. 2018 Apr;32(2):254-260. doi: 10.1016/j.berh.2018.09.003. Epub 2018 Sep 29.
6
Lack of clear and univocal genotype-phenotype correlation in familial Mediterranean fever patients: A systematic review.家族性地中海热患者基因型-表型相关性不明确和不统一:系统评价。
Clin Genet. 2018 Jul;94(1):81-94. doi: 10.1111/cge.13223. Epub 2018 Mar 9.
7
Cardiac manifestations of Familial Mediterranean fever.家族性地中海热的心脏表现
Avicenna J Med. 2017 Oct-Dec;7(4):158-163. doi: 10.4103/ajm.AJM_78_17.
8
Cardiac disease in familial Mediterranean fever.家族性地中海热相关的心脏疾病。
Rheumatol Int. 2018 Jan;38(1):51-58. doi: 10.1007/s00296-017-3853-8. Epub 2017 Oct 20.
9
Pericarditis as a Marker of Occult Cancer and a Prognostic Factor for Cancer Mortality.心包炎作为隐匿性癌症的标志物及癌症死亡率的预后因素
Circulation. 2017 Sep 12;136(11):996-1006. doi: 10.1161/CIRCULATIONAHA.116.024041. Epub 2017 Jun 29.
10
Familial Mediterranean fever; diagnosis, treatment, and complications.家族性地中海热;诊断、治疗及并发症。
J Nephropharmacol. 2015 Jan 1;4(1):5-8. eCollection 2015.