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遗传性凝血因子V和凝血因子VIII联合缺乏症：1例凝血因子VIII抗原及瑞斯托霉素诱导的血小板聚集正常的病例报告。

Inherited combined deficiency of factor V and factor VIII: report of a case with normal factor VIII antigen and ristocetin-induced platelet aggregation.

作者信息

Cimo P L, Moake J L, Gonzalez M F, Natelson E A, Fox K R

出版信息

Am J Hematol. 1977;2(4):385-91. doi: 10.1002/ajh.2830020408.

DOI:10.1002/ajh.2830020408
PMID:564138
Abstract

A patient with inherited combined deficiency of factor V and factor VIII is reported, who demonstrated normal levels of factor VIII antigen and plasma cofactor for ristocetin-induced platelet aggregation. The relationship of this condition to classical hemophilia and von Willebrand's disease is discussed. The data presented suggest that multiple loci on at least 2 chromosomes are necessary for the normal expression of factor VIII activity.

摘要

报告了1例遗传性Ⅴ因子和Ⅷ因子联合缺乏的患者，其Ⅷ因子抗原水平及瑞斯托霉素诱导的血小板聚集的血浆辅因子水平均正常。讨论了这种情况与经典血友病及血管性血友病的关系。所提供的数据表明，至少2条染色体上的多个基因座对于Ⅷ因子活性的正常表达是必需的。

相似文献

1
Inherited combined deficiency of factor V and factor VIII: report of a case with normal factor VIII antigen and ristocetin-induced platelet aggregation.遗传性凝血因子V和凝血因子VIII联合缺乏症：1例凝血因子VIII抗原及瑞斯托霉素诱导的血小板聚集正常的病例报告。
Am J Hematol. 1977;2(4):385-91. doi: 10.1002/ajh.2830020408.
2
Diagnosis of von Willebrand's disease. A comparative study of diagnostic tests on nine families with von Willebrand's disease and its differential diagnosis from hemophilia and thrombocytopathy.血管性血友病的诊断。对九个血管性血友病家族的诊断试验及其与血友病和血小板病的鉴别诊断的比较研究。
Am J Med. 1976 Mar;60(3):344-56. doi: 10.1016/0002-9343(76)90750-6.
3
Combined factor V/VIII deficiency: a case report including levels of factor V and factor VIII coagulant and antigen as well as protein C inhibitor.
Am J Hematol. 1985 Dec;20(4):401-7. doi: 10.1002/ajh.2830200412.
4
Development of an inhibitor specific to factor VIII: coagulant activity in a patient with platelet-type von Willebrand's disease.血小板型血管性血友病患者中特异性抑制因子VIII促凝活性的抑制剂的研发。
Am J Clin Pathol. 1983 Nov;80(5):745-9. doi: 10.1093/ajcp/80.5.745.
5
Re-evaluation of plasmas from patients previously diagnosed as having von Willebrand's disease with the factor VIII-related antigen and ristocetin cofactor assay.通过因子VIII相关抗原和瑞斯托霉素辅因子测定法对先前诊断为血管性血友病患者的血浆进行重新评估。
Am J Clin Pathol. 1979 Jan;71(1):26-30. doi: 10.1093/ajcp/71.1.26.
6
Quantitative assay of a plasma factor deficient in von Willebrand's disease that is necessary for platelet aggregation. Relationship to factor VIII procoagulant activity and antigen content.对血管性血友病中缺乏的、血小板聚集所必需的一种血浆因子进行定量测定。与凝血因子VIII促凝活性及抗原含量的关系。
J Clin Invest. 1973 Nov;52(11):2708-16. doi: 10.1172/JCI107465.
7
Dissociation between factor VIII (activity and antigen) and ristocetin-induced platelet aggregation in von Willebrand's disease.血管性血友病中因子VIII（活性与抗原）及瑞斯托霉素诱导的血小板聚集之间的解离
Acta Haematol. 1975;53(1):44-8. doi: 10.1159/000208154.
8
Defective ristocetin-induced platelet aggregation in von Willebrand's disease and its correction by factor VIII.血管性血友病中瑞斯托霉素诱导的血小板聚集缺陷及其通过因子VIII的纠正。
J Clin Invest. 1973 Nov;52(11):2697-707. doi: 10.1172/JCI107464.
9
Acquired von Willebrand syndrome with inhibitors both to factor VIII clotting activity and ristocetin-induced platelet aggregation.获得性血管性血友病综合征，同时伴有针对凝血因子VIII凝血活性和瑞斯托霉素诱导的血小板聚集的抑制剂。
Br J Haematol. 1976 Aug;33(4):565-73. doi: 10.1111/j.1365-2141.1976.tb03575.x.
10
Relationship between ristocetin-induced platelet aggregation and factor VIII (activity and antigen) in v. Willebrand's disease.血管性血友病中瑞斯托霉素诱导的血小板聚集与因子VIII（活性和抗原）之间的关系。
Blut. 1974 Oct;29(4):260-4. doi: 10.1007/BF01635547.

引用本文的文献

1
Additional factor XII (Hageman factor) deficiency in hemophilia A and in von Willebrand syndrome.甲型血友病和血管性血友病中额外的因子 XII（哈格曼因子）缺乏症。
Klin Wochenschr. 1982 Mar;60(6):303-9. doi: 10.1007/BF01716807.
2
Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease.联合因子V/ VIII缺乏症中蛋白C抑制剂缺乏
J Clin Invest. 1980 Nov;66(5):1186-9. doi: 10.1172/JCI109952.