Ng Christopher J, Di Paola Jorge
Department of Pediatrics, University of Colorado, Children's Hospital Colorado, 12800 East 19th Avenue, Research Center 1 North, MS 8302, Aurora, CO 80111, USA.
Department of Pediatrics, University of Colorado, Children's Hospital Colorado, 12800 East 19th Avenue, Research Center 1 North, MS 8302, Aurora, CO 80111, USA.
Pediatr Clin North Am. 2018 Jun;65(3):527-541. doi: 10.1016/j.pcl.2018.02.004.
von Willebrand disease (VWD) is one of the most common inherited bleeding disorders. Since its first description in 1926, the diagnosis and management of VWD has significantly improved due to increasing scientific knowledge of the genetics and biology of von Willebrand factor (VWF). This article reviews the molecular structure and function of VWF as well as the clinical symptoms, laboratory-based diagnostic workup, and classification schema for VWD. It highlights current treatment options and state-of-the art research in VWF and VWD.
血管性血友病（VWD）是最常见的遗传性出血性疾病之一。自1926年首次被描述以来，由于对血管性血友病因子（VWF）的遗传学和生物学的科学认识不断增加，VWD的诊断和管理有了显著改善。本文综述了VWF的分子结构和功能，以及VWD的临床症状、基于实验室的诊断检查和分类方案。它重点介绍了VWF和VWD目前的治疗选择以及最新研究进展。
