Caron Claudine, Mazurier Claudine, Goudemand Jenny
Department of Haematology, University Cardiological Hospital, Boulevard du Professeur J. Leclerq, 59037 Lille Cedex, France.
Br J Haematol. 2002 Jun;117(3):716-8. doi: 10.1046/j.1365-2141.2002.03488.x.
The present diagnostic assay for type 2N von Willebrand disease (VWD) is based on the in vitro measurement of the capacity of plasma von Willebrand factor (VWF) to bind exogeneous factor VIII (VWF:FVIIIB). We report a method using only commercially available reagents that is easy to perform. This method has been validated in a cohort of 144 patients with FVIII/VWF ratios < 0.6 using a plasma control mixture representative of intermediate VWF:FVIIIB. In total, 15 patients were diagnosed with markedly decreased VWF:FVIIIB and five patients were shown to have moderately decreased VWF:FVIIIB. Specific type 2N mutations were identified in all these patients.
目前用于诊断2N型血管性血友病（VWD）的检测方法是基于体外测量血浆血管性血友病因子（VWF）结合外源性因子VIII（VWF:FVIIIB）的能力。我们报告了一种仅使用市售试剂且易于操作的方法。该方法已在144例FVIII/VWF比率<0.6的患者队列中得到验证，使用的血浆对照混合物代表中等水平的VWF:FVIIIB。总共有15例患者被诊断为VWF:FVIIIB显著降低，5例患者显示VWF:FVIIIB中度降低。在所有这些患者中均鉴定出特定的2N型突变。
