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血管性假血友病(简称VWD)是最常见的遗传性出血性疾病之一。von Willebrand1926年首先认识此病。当时,诊断建立在出血时间延长及常染色体遗传类型的基础上。近来,由于Ⅷ因子生物化学方面的进展,对VWD所缺乏的因子有了新的了解,并明确了VWD不是一种同质性疾病。而是包括几个遗传变异的疾病。本文从生物化学、免疫、病理生理、临床及诊断几方面复习有关VWD的知识,重点在分子变异方面。von Willebrand 因子的性质和功能1957年,Nilsson及其合作者给VWD病人输注因子Ⅷ浓缩物、人血浆组份Ⅰ-0,不
Vascular hemophilia (VWD) is one of the most common hereditary hemorrhagic diseases. von Willebrand 1926 first airshow disease. At that time, the diagnosis was based on prolonged bleeding and autosomal genetic types. Recently, due to the biochemical progress of factor Ⅷ, a new understanding of the factors lacking in VWD has been made and it is clear that VWD is not a homogeneous disease. But includes several genetic variants of the disease. This article reviews biochemical, immunological, pathophysiological, clinical, and diagnostic aspects of VWD, focusing on molecular variation. Nature and Function of von Willebrand Factor In 1957, Nilsson and co-workers administered factor VIII concentrates to human VWD patients, human plasma components I-0,