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von Willcbrand 病(简称vWd)是芬兰医生Erich von willcbrand 于1926年首次报道的。由于其某些症状与血友病相似,而早期的研究认为有“血管脆性异常”,故本病又被称为假血友病或血管性假血友病。1957年Nilsson等证实了正常血浆中的一种因子能纠正vWd病人的止血功能异常,这就肯定了vWd 的缺陷在于血浆而不是血管。因此目前公认的标准命名把上述血浆因子称为von Willebrand 因子(vWf),相应疾病称为vWd。vWf 是一种分子量很大的糖蛋白聚合物,并被证明是由一种基本亚单位聚合而成。这种亚单位以不同的数量组成一些分子量不同的寡聚体,并以此为基础形成vWf 的多聚体结构。现已明了,除了量的异常外,vWf 质的异常即多聚体结构的异常也是vWd 的病因。通过对vWf 的定量及定性测定,辅以功能测定及其临
von Willcbrand disease (vWd) was first reported by Finnish doctor Erich von Willbrand in 1926. Because some of its symptoms are similar to hemophilia, and earlier studies identified “abnormalities of vascular fragility,” the disease is also known as pseudohemophilia or von Willebrand’s disease. In 1957, Nilsson et al. Confirmed that a factor in normal plasma can correct the hemostatic dysfunction in vWd patients, which confirms that the defect of vWd lies in plasma instead of blood vessel. Therefore, the currently accepted standard nomenclature refers to the plasma factor von Willebrand factor (vWf), the corresponding disease is called vWd. vWf is a high molecular weight glycoprotein polymer that has been shown to polymerize from a basic subunit. This subunit consists of oligomers of different molecular weights in different quantities and forms a multimeric structure of vWf on the basis of this. It is now clear that in addition to the abnormal quantity, the abnormality of the vWf, ie the abnormality of the multimeric structure, is also the etiology of vWd. Through the vWf quantitative and qualitative determination, supplemented by functional assay and its Pro