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首页> 外文期刊>Clinical and applied thrombosis/hemostasis : >Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test
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Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test

机译：von Willebrand因子多聚体分析和DDAVP挑战试验对von Willebrand 1型和2型疾病的诊断区分

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The European Clinical Laboratory and Molecular (ECLM) classification of von Willebrand disease (vWD) is based on the splitting approach which uses sensitive and specific von Willebrand factor (vWF) assays with regard to the updated molecular data on structure and function of vWF gene and protein defects. A complete set of FVIII:C and vWF ristocetine cofactor, collagen binding, and antigen, vWF multimeric analysis in low- and medium-resolution gels, and responses to desmopressin (DDAVP) of FVIII:C and vWF parameters are mandatory. The ECLM classification distinguishes recessive types 1 and 3 vWD from recessive vWD 2C due to mutations in the D1 and D2 domains and vWD 2N due to mutations in the D′-FVIII-binding domain of vWF. The ECLM classification differentiates between mild vWD type 1 with variable penetrance of bleedings from symptomatic dominant type 1 vWD secretion defect and/or clearance defect with normal vWF multimers versus vWD 1M and 2M with normal or smeary vWF multimers in low- and medium-resolution gels. High-quality multimeric analysis of vWF in medium-resolution gels based on a DDAVP challenge test clearly delineates and distinguishes each of the dominant type 2 vWDs 1/2E, 2M, 2B, 2A, and 2D caused by vWF gene mutations in the D3 multimerization domain, loss or gain-of-function mutations in the glycoprotein Ib receptor A1 domain, gene mutations in the A2 proteolytic domain, and the C-terminal dimerization domain, respectively.
机译：von Willebrand病（vWD）的欧洲临床实验室和分子（ECLM）分类基于分裂方法，该方法使用敏感和特定的von Willebrand因子（vWF）测定法，以获取有关vWF基因和功能的最新分子数据。蛋白质缺陷。必须具备完整的FVIII：C和vWF ristocetine辅助因子，胶原蛋白结合以及抗原，低分辨率和中分辨率凝胶中的vWF多聚体分析以及对FVIII：C和vWF参数的去氨加压素（DDAVP）的响应。 ECLM分类将隐性1型和3型vWD与隐性vWD 2C区分为由于vWF的D1和D2结构域的突变而导致的隐性vWD 2N和vWD 2N。 ECLM分类区分了正常vWF多聚体的症状性显性1型vWD分泌缺陷和/或清除缺陷的轻度vWD类型与症状性显性1型vWD与低分辨率和中等分辨率凝胶中正常或油污vWF多聚体的vWD 1M和2M的区别。基于DDAVP挑战测试的中等分辨率凝胶中vWF的高质量多聚体分析清楚地描绘和区分了D3多聚反应中vWF基因突变引起的2型主要vWD 1 / 2E，2M，2B，2A和2D。蛋白结构域，糖蛋白Ib受体A1结构域中的功能丧失或功能获得突变，A2蛋白水解结构域和C端二聚体结构域中的基因突变。

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