• 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

达比加群治疗后与新型SERPINC1突变相关的多系统静脉血栓形成的良好结局：一项7年随访的病例报告

Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up.

作者信息

Huang Teng, Liu Yu, Jiang Xiaofeng, Zhang Wei, Zhou Honglian, Hu Qi

机构信息

Department of Geriatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 430030, Wuhan, PR China.

Department of General medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 430030, Wuhan, PR China.

出版信息

Thromb J. 2022 Dec 28;20(1):81. doi: 10.1186/s12959-022-00446-3.

DOI:10.1186/s12959-022-00446-3
PMID:36578065
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9798687/
Abstract

BACKGROUND

Mutations in SERPINC1 lead to deficiency in antithrombin (AT) which is an endogenous anticoagulant of normal hemostasis and could result in venous thromboembolism (VTE).

CASE PRESENTATION

A 61-year-old male patient with recurrent thrombosis returned to the hospital with multiple cerebral thrombosis after voluntary cessation of dabigatran therapy. Laboratory tests revealed a type I AT deficiency in this patient and further whole exome sequencing (WES) identified a novel heterozygous frameshift duplication (c.233_236dup, p.Val80Alafs*26) in SERPINC1 gene. Long-term dabigatran treatment was given and no recurrence or side effects were found within the followed 5 years.

CONCLUSION

A multisystem VTE patient with a novel SERPINC1 mutation (c.233_236dup, p.Val80Alafs*26) reached a favourable outcome after dabigatran treatment.

摘要

背景

SERPINC1基因的突变导致抗凝血酶（AT）缺乏，抗凝血酶是正常止血过程中的一种内源性抗凝剂，可导致静脉血栓栓塞（VTE）。

病例介绍

一名61岁复发性血栓形成的男性患者，在自愿停止达比加群治疗后因多发性脑血栓再次入院。实验室检查显示该患者为I型抗凝血酶缺乏，进一步的全外显子组测序（WES）在SERPINC1基因中发现了一种新的杂合移码重复突变（c.233_236dup，p.Val80Alafs*26）。给予患者长期达比加群治疗，在随后的5年中未发现复发或副作用。

结论

一名患有新型SERPINC1突变（c.233_236dup，p.Val80Alafs*26）多系统静脉血栓栓塞患者在接受达比加群治疗后取得了良好的疗效。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a568/9798687/1c727f113a5f/12959_2022_446_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a568/9798687/08d3c0f4cb9d/12959_2022_446_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a568/9798687/57d5167adbea/12959_2022_446_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a568/9798687/4e1cb3e64f42/12959_2022_446_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a568/9798687/aa107d58783b/12959_2022_446_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a568/9798687/1c727f113a5f/12959_2022_446_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a568/9798687/08d3c0f4cb9d/12959_2022_446_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a568/9798687/57d5167adbea/12959_2022_446_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a568/9798687/4e1cb3e64f42/12959_2022_446_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a568/9798687/aa107d58783b/12959_2022_446_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a568/9798687/1c727f113a5f/12959_2022_446_Fig5_HTML.jpg

相似文献

1
Favourable outcome of multisystem venous thrombosis associated with novel SERPINC1 mutation after treated with dabigatran: a case report with 7-year follow-up.达比加群治疗后与新型SERPINC1突变相关的多系统静脉血栓形成的良好结局：一项7年随访的病例报告
Thromb J. 2022 Dec 28;20(1):81. doi: 10.1186/s12959-022-00446-3.
2
Missense mutation of (p.Ser426Leu) in a young patient presenting as refractory and recurrent venous thromboembolism: A case report.一名表现为难治性复发性静脉血栓栓塞的年轻患者中 （p.Ser426Leu） 的错义突变：病例报告
Front Cardiovasc Med. 2022 Aug 24;9:903785. doi: 10.3389/fcvm.2022.903785. eCollection 2022.
3
Patients with SERPINC1 rs2227589 polymorphism found to have multiple cerebral venous sinus thromboses despite a normal antithrombin level: A case report.尽管抗凝血酶水平正常，但发现携带SERPINC1 rs2227589基因多态性的患者出现多处脑静脉窦血栓形成：一例报告。
World J Clin Cases. 2022 Jan 14;10(2):618-624. doi: 10.12998/wjcc.v10.i2.618.
4
Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report.一名携带SERPINC1基因新突变（p.M313T）导致短暂抗凝血酶缺乏的孕妇发生多次静脉血栓栓塞：病例报告
Thromb J. 2023 Dec 13;21(1):123. doi: 10.1186/s12959-023-00571-7.
5
Recurrent mutations in a hotspot associate with venous thrombosis without apparent antithrombin deficiency.热点区域的复发性突变与无明显抗凝血酶缺乏的静脉血栓形成相关。
Oncotarget. 2017 Sep 28;8(48):84417-84425. doi: 10.18632/oncotarget.21365. eCollection 2017 Oct 13.
6
Pulmonary thromboembolism associated with hereditary antithrombin III deficiency: A case report.遗传性抗凝血酶 III 缺乏症相关肺血栓栓塞症：一例报告。
Medicine (Baltimore). 2024 Mar 8;103(10):e37429. doi: 10.1097/MD.0000000000037429.
7
Atypical pulmonary thromboembolism caused by the mutation site SERPINC1 of the antithrombin III gene: A case report.由抗凝血酶 III 基因突变位点 SERPINC1 引起的非典型性肺血栓栓塞症：一例报告。
Medicine (Baltimore). 2024 Aug 2;103(31):e39175. doi: 10.1097/MD.0000000000039175.
8
A novel mutation of SERPINC1 in a patient presenting as recurrent cerebral sinus venous and portal vein thrombosis.一名表现为复发性脑静脉窦和门静脉血栓形成的患者中SERPINC1的新型突变。
Blood Coagul Fibrinolysis. 2020 Apr;31(3):229-232. doi: 10.1097/MBC.0000000000000893.
9
Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report.年轻男性静脉血栓栓塞症伴抗凝血酶缺陷和蛋白 C 活性降低：病例报告。
Front Med. 2018 Jun;12(3):319-323. doi: 10.1007/s11684-017-0553-4. Epub 2017 Aug 31.
10
Impact of SERPINC1 mutation on thrombotic phenotype in children with congenital antithrombin deficiency-first analysis of the International Society on Thrombosis and Haemostasis pediatric antithrombin deficiency database and biorepository.丝氨酸蛋白酶抑制剂 C1 突变对先天性抗凝血酶缺乏症患儿血栓表型的影响——国际血栓与止血学会儿童抗凝血酶缺乏症数据库和生物库的首次分析。
J Thromb Haemost. 2023 May;21(5):1248-1257. doi: 10.1016/j.jtha.2023.01.037. Epub 2023 Feb 9.

引用本文的文献

1
Efficacy and safety of direct oral anticoagulants in patients with venous thrombosis and inherited thrombophilia.直接口服抗凝剂在静脉血栓形成和遗传性血栓形成倾向患者中的疗效和安全性。
Int J Med Sci. 2025 Jun 23;22(13):3182-3190. doi: 10.7150/ijms.108258. eCollection 2025.
2
Prothrombotic Rebound After Discontinuation of Direct Oral Anticoagulants Therapy: A Systematic Review.直接口服抗凝剂治疗中断后的血栓前状态反弹：一项系统评价
J Clin Med. 2024 Nov 3;13(21):6606. doi: 10.3390/jcm13216606.

本文引用的文献

1
New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV.抗凝血酶缺乏症患者的新型SERPINC1基因突变：抗凝血酶罗兹I型、II型、III型和IV型
Pol Arch Intern Med. 2022 Jan 28;132(1). doi: 10.20452/pamw.16158. Epub 2021 Dec 1.
2
Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo.一个家族中SERPINC1变异体的基因型-表型梯度揭示了一个死胎中存在严重的复合抗凝血酶缺乏症。
Br J Haematol. 2020 Oct;191(1):e32-e35. doi: 10.1111/bjh.16963. Epub 2020 Jul 19.
3
Seventeen novel SERPINC1 variants causing hereditary antithrombin deficiency in a Czech population.
在捷克人群中发现17种导致遗传性抗凝血酶缺乏症的新型SERPINC1变体。
Thromb Res. 2020 May;189:39-41. doi: 10.1016/j.thromres.2020.02.025. Epub 2020 Mar 2.
4
A novel mutation of SERPINC1 in a patient presenting as recurrent cerebral sinus venous and portal vein thrombosis.一名表现为复发性脑静脉窦和门静脉血栓形成的患者中SERPINC1的新型突变。
Blood Coagul Fibrinolysis. 2020 Apr;31(3):229-232. doi: 10.1097/MBC.0000000000000893.
5
Hereditary thrombophilia.遗传性血栓形成倾向
Acta Biomed. 2019 Sep 30;90(10-S):44-46. doi: 10.23750/abm.v90i10-S.8758.
6
Thrombophilia Testing and Venous Thrombosis.血栓形成倾向检测与静脉血栓形成
N Engl J Med. 2017 Sep 21;377(12):1177-1187. doi: 10.1056/NEJMra1700365.
7
Proper diagnosis of antithrombin III deficiency.
Anatol J Cardiol. 2017 Apr;17(4):342. doi: 10.14744/AnatolJCardiol.2017.7693.
8
Guidance for the evaluation and treatment of hereditary and acquired thrombophilia.遗传性和获得性血栓形成倾向的评估与治疗指南。
J Thromb Thrombolysis. 2016 Jan;41(1):154-64. doi: 10.1007/s11239-015-1316-1.
9
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.RNA剪接。人类剪接密码揭示了对疾病遗传决定因素的新见解。
Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.
10
Inherited risk factors for venous thromboembolism.遗传性静脉血栓栓塞症风险因素。
Nat Rev Cardiol. 2014 Mar;11(3):140-56. doi: 10.1038/nrcardio.2013.211. Epub 2014 Jan 14.