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山东大学学报 (医学版) ›› 2022, Vol. 60 ›› Issue (3): 121-124.doi: 10.6040/j.issn.1671-7554.0.2021.1187

• • 上一篇    

遗传性血栓性血小板减少性紫癜1例并文献复习

薛美娟1,石艳1,邵琳琳1,王琳1,张昀2,张阿敏2   

  • 发布日期:2022-03-09
  • 通讯作者: 石艳. E-mail:Shiyansjj@163.com

  • Published:2022-03-09

关键词: 遗传性血栓性血小板减少性紫癜, ADAMTS13, 基因突变, 诊断, 治疗

中图分类号: 

  • R558
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[2] Roose E, Joly BS. Current and future perspectives on ADAMTS13 and thrombotic thrombocytopenic purpura[J]. Hamostaseologie, 2020, 40(3): 322-336.
[3] Scully M, Hunt BJ, Benjamin S, et al. Guidelines on the diagnosis and management of thrombotic thrombocytopenic Purpura and other thrombotic microangiopathies[J]. Br J Haematol, 2012,158(3):323-335.
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[5] Matsumoto M, Fujimura Y, Wada H, et al. Diagnostic and treatment guidelines for thrombotic thrombocytopenic Purpura(TTP)2017 in Japan[J]. Int J Hematol, 2017, 106(1): 3-15.
[6] Jiang Y, Huang D. Novel mutations in ADAMTS13 CUB domains cause abnormal pre-mRNA splicing and defective secretion of ADAMTS13[J]. J Cell Mol Med, 2020, 24(7): 4356-4361.
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[8] Levy GG, Nichols WC, Lian EC, et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic Purpura[J]. Nature, 2001,413(6855):488-494.
[9] Singh B, Chan KH, Kaur P, et al. Atypical Presentation of Thrombotic Thrombocytopenic Purpura without Hematological Features[J]. Int J Hematol Oncol Stem Cell Res, 2020,14(3):167-170.
[10] Azoulay E, Bauer PR, Mariotte E, et al. Expert statement on the ICU management of patients with thrombotic thrombocytopenic Purpura[J].Intensive Care Med, 2020, 46(3): 570-571.
[11] Zheng XL, Vesely SK, Cataland SR, et al. ISTH guidelines for treatment of thrombotic thrombocytopenic Purpura[J]. J Thromb Haemost, 2020,18(10):2496-2502.
[12] Marcellini AS, Valencia CS, Díaz VJ, et al. Clinical management and follow-up of relapsed immune thrombotic thrombocytopenic Purpura during pregnancy:A case report[J]. T hromb Res, 2020,194:91-94. doi:10.1016/j.thromres.2020.06.020.
[13] Zheng XL, Vesely SK, Cataland SR, et al. ISTH guidelines for the diagnosis of thrombotic thrombocytopenic Purpura[J]. J Thromb Haemost, 2020,18(10):2486-2495.
[14] Wynick C, Britto J, Sawler D, et al. Validation of the PLASMIC score for predicting ADAMTS13 activity<10% in patients with suspected thrombotic thrombocytopenic Purpura in Alberta, Canada[J]. Thromb Res,2020,196:335-339. doi:10.1016/j.thromres.2020.09.012.
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