Gralnick H R, Sultan Y, Coller B S
N Engl J Med. 1977 May 5;296(18):1024-30. doi: 10.1056/NEJM197705052961802.
Studies of von Willebrand's disease typically show either a quantitative or a qualitative abnormality of the factor VIII/von Willebrand factor protein. In studies of five patients we found a combination of quantitative and qualitative defects. Quantitative abnormalities included decreased levels of procoagulant, antigen and von Willebrand factor activities in the plasma and in the column fractions of cryopercipitate from gel chromatography. Qualitative abnormalities included annormal migration or shape of the crossed antigen-antibody arcs, disproportionate reduction of von Willebrand factor in relation to antigen, altered gel elution patterns of procoagulant, and von Willebrand factor activities the negative carbohydrate stain of the VIII protein on polyacryl-amide-gel electrophoresis and, in two patients, a decreased sialic acid content of factor VIII protein. Our studies indicate that von Willebrand's disease comprises both quantitative and qualitative defects.
血管性血友病的研究通常显示因子VIII/血管性血友病因子蛋白存在定量或定性异常。在对5例患者的研究中,我们发现了定量和定性缺陷的组合。定量异常包括血浆中及凝胶层析冷沉淀柱组分中促凝活性、抗原及血管性血友病因子活性水平降低。定性异常包括交叉抗原-抗体弧的迁移或形状异常、血管性血友病因子相对于抗原不成比例的减少、促凝活性的凝胶洗脱模式改变、血管性血友病因子活性、聚丙烯酰胺凝胶电泳上VIII蛋白的阴性碳水化合物染色,以及在2例患者中因子VIII蛋白的唾液酸含量降低。我们的研究表明,血管性血友病包括定量和定性缺陷。