高通量测序辅助诊治颅内静脉窦血栓1例并文献复习
|
摘要
颅内静脉窦血栓形成(CVST)是一种较为罕见却致命的疾病,因其临床表现多样,诱发因素不一,因而该病的诊断和治疗充满了挑战。我们报道1例以头痛、癫痫、局灶神经体征为主要表现的年轻患者,磁共振静脉造影(MRV)显示充盈缺损,提示CVST。但常规使用低分子量肝素对患者无明显效果。高通量测序的易栓症分子诊断技术揭示了该病例血栓形成的根本原因,即遗传蛋白C合并遗传性抗凝血酶缺乏症。以分子诊断为依据,用直接口服抗凝药物利伐沙班代替低分子量肝素进行治疗后,患者的病情得到了控制。
Cerebral venous sinus thrombosis(CVST)is an uncommon,life-threatening condition with a variable clinical presentation and induing factors that makes it a challenge of diagnosis and treatment.We presented a case of intracranial sinus thrombosis with hereditary PC deficiency and hereditary AT deficiency.The magnetic resonance angiography(MRA)combined with magnetic resonance venography(MRV)showed the filling defect of CVST.But the patient failured to respond to LMWH which generally used for CVST.High throughput sequencing revealed the hidden cause of hereditary PC deficiency and hereditary AT deficiency.Thus direct oral anticoagulant drugs rivaroxaban were given instead of LMWH to this patient and improvement achieved.
Cerebral venous sinus thrombosis(CVST)is an uncommon,life-threatening condition with a variable clinical presentation and induing factors that makes it a challenge of diagnosis and treatment.We presented a case of intracranial sinus thrombosis with hereditary PC deficiency and hereditary AT deficiency.The magnetic resonance angiography(MRA)combined with magnetic resonance venography(MRV)showed the filling defect of CVST.But the patient failured to respond to LMWH which generally used for CVST.High throughput sequencing revealed the hidden cause of hereditary PC deficiency and hereditary AT deficiency.Thus direct oral anticoagulant drugs rivaroxaban were given instead of LMWH to this patient and improvement achieved.
引文
[1]Einhupl K,Stam J,Bousser MG,et al.EFNS guideline on the treatment of cerebral venous and sinus thrombosis in adult patients[J].Eur J Neurol,2010,17(10):1229-1235.
[2]Ferro JM,Bousser MG,Canh2o P,et al.European Stroke Organization guideline for the diagnosis and treatment of cerebral venous thrombosis-endorsed by the European Academy of Neurology[J].Eur J Neurol,2017,24(10):1203-1213.
[3]Agrawal K,Burger K,Rothrock JF.Cerebral sinus thrombosis[J].Headache,2016,56(8):1380-1389.
[4]Alonso-Cánovas A,Masjuan J,González-Valcárcel J,et al.Cerebral venous thrombosis:when etiology makes the difference[J].Neurologia,2009,24(7):439-445.
[5]Uzar E,Ekici F,Acar A,et al.Cerebral venous sinus thrombosis:an analyses of 47patients[J].Eur Rev Med Pharmacol Sci,2012,16(11):1499-1505.
[6]Anadure RK,Wilson V,Sahu S,et al.A study of clinical,radiological and etiological profile of cerebral venous sinus thrombosis at a tertiary care center[J].Med J Armed Forces India,2018,74(4):326-332.
[7]齐新,崔丽英,王建明.北京协和医院静脉窦血栓患者临床特点及治疗的变化[J].中华医学杂志,2008,88(23):1624-1626.
[8]Frere C,Benzidia I,Marjanovic Z,et al.Recent advances in the management of cancer-associated thrombosis:new hopes but new challenges[J].Cancers(Basel),2019,11(1):E71.
[9]King AB,O'Duffy AE,Kumar AB.Heparin resistance and anticoagulation failure in a challenging case of cerebral venous sinus thrombosis[J].Neurohospitalist,2016,6(3):118-121.
[10]程志鹏,唐亮,陆铉,等.遗传性抗凝血酶及遗传性蛋白C联合缺乏症家系研究[J].临床血液学杂志,2014,27(5):375-378.
[11]de Koning TJ,Jongbloed JD,Sikkema-Raddatz B,et al.Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics:the opportunities and challenges[J].Expert Rev Mol Diagn,2015,15(1):61-70.
[12]Metzker ML.Emerging technologies in DNA sequencing[J].Genome Res,2005,15(12):1767-1776.
[13]鲍芸,肖艳群,王华梁.高通量测序技术在五类疾病分子诊断中的应用及质量管理策略[J].中华临床实验室管理电子杂志,2018,6(2):69-73.
[14]Czuprynska J,Patel JP,Arya R.Current challenges and future prospects in oral anticoagulant therapy[J].Br J Haematol,2017,178(6):838-851.
[15]Abdou JK,Auyeung V,Patel JP,et al.Adherence to long-term anticoagulation treatment,what is known and what the future might hold[J].Br J Haematol,2016,174(1):30-42.
[16]李秋红.66例颅内静脉窦血栓形成临床分析及新型抗凝药应用的认识[D].山东:山东大学,2016.
[17]Ferro JM,Dentali F,Coutinho JM,et al.Rationale,design,and protocol of a randomized controlled trial of the safety and efficacy of dabigatran etexilate versus dose-adjusted warfarin in patients with cerebral venous thrombosis[J].Int J Stroke,2018,13(7):766-770.
[2]Ferro JM,Bousser MG,Canh2o P,et al.European Stroke Organization guideline for the diagnosis and treatment of cerebral venous thrombosis-endorsed by the European Academy of Neurology[J].Eur J Neurol,2017,24(10):1203-1213.
[3]Agrawal K,Burger K,Rothrock JF.Cerebral sinus thrombosis[J].Headache,2016,56(8):1380-1389.
[4]Alonso-Cánovas A,Masjuan J,González-Valcárcel J,et al.Cerebral venous thrombosis:when etiology makes the difference[J].Neurologia,2009,24(7):439-445.
[5]Uzar E,Ekici F,Acar A,et al.Cerebral venous sinus thrombosis:an analyses of 47patients[J].Eur Rev Med Pharmacol Sci,2012,16(11):1499-1505.
[6]Anadure RK,Wilson V,Sahu S,et al.A study of clinical,radiological and etiological profile of cerebral venous sinus thrombosis at a tertiary care center[J].Med J Armed Forces India,2018,74(4):326-332.
[7]齐新,崔丽英,王建明.北京协和医院静脉窦血栓患者临床特点及治疗的变化[J].中华医学杂志,2008,88(23):1624-1626.
[8]Frere C,Benzidia I,Marjanovic Z,et al.Recent advances in the management of cancer-associated thrombosis:new hopes but new challenges[J].Cancers(Basel),2019,11(1):E71.
[9]King AB,O'Duffy AE,Kumar AB.Heparin resistance and anticoagulation failure in a challenging case of cerebral venous sinus thrombosis[J].Neurohospitalist,2016,6(3):118-121.
[10]程志鹏,唐亮,陆铉,等.遗传性抗凝血酶及遗传性蛋白C联合缺乏症家系研究[J].临床血液学杂志,2014,27(5):375-378.
[11]de Koning TJ,Jongbloed JD,Sikkema-Raddatz B,et al.Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics:the opportunities and challenges[J].Expert Rev Mol Diagn,2015,15(1):61-70.
[12]Metzker ML.Emerging technologies in DNA sequencing[J].Genome Res,2005,15(12):1767-1776.
[13]鲍芸,肖艳群,王华梁.高通量测序技术在五类疾病分子诊断中的应用及质量管理策略[J].中华临床实验室管理电子杂志,2018,6(2):69-73.
[14]Czuprynska J,Patel JP,Arya R.Current challenges and future prospects in oral anticoagulant therapy[J].Br J Haematol,2017,178(6):838-851.
[15]Abdou JK,Auyeung V,Patel JP,et al.Adherence to long-term anticoagulation treatment,what is known and what the future might hold[J].Br J Haematol,2016,174(1):30-42.
[16]李秋红.66例颅内静脉窦血栓形成临床分析及新型抗凝药应用的认识[D].山东:山东大学,2016.
[17]Ferro JM,Dentali F,Coutinho JM,et al.Rationale,design,and protocol of a randomized controlled trial of the safety and efficacy of dabigatran etexilate versus dose-adjusted warfarin in patients with cerebral venous thrombosis[J].Int J Stroke,2018,13(7):766-770.