血管性血友病因子的实验室检测：因子 VIII 结合试验（用于 2N 型血管性血友病）

Laboratory Testing for von Willebrand Factor: Factor VIII Binding (for 2N VWD).

作者信息

Mohammed Soma, Favaloro Emmanuel J

机构信息

Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, NSW, 2145, Australia.

Haematology Department, Sydney Centres for Thrombosis and Haemostasis, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, NSW Health Pathology, Westmead, NSW, 2145, Australia.

出版信息

Methods Mol Biol. 2017;1646:461-472. doi: 10.1007/978-1-4939-7196-1_34.

DOI:10.1007/978-1-4939-7196-1_34

PMID:28804848

Abstract

Von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder and can also arise as an acquired syndrome (AVWS). These disorders develop due to defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for the VWF-related disorders requires assessment of both VWF level and VWF activity, the latter requiring multiple assays because of the many functions carried out by VWF to help prevent bleeding. The current paper describes a protocol for assessment of VWF activity by means of VWF: factor VIII binding (VWF:FVIIIB). Such assays identify VWF activity by quantitative assessment of VWF protein adhesion to FVIII, which is the activity lost in type 2N VWD. This assay is therefore a critical assay for identification or exclusion of 2N VWD. The most commonly performed assays for VWF:FVIIIB comprise enzyme-linked immunosorbent assays (ELISA), and such an assay is described in this chapter.

摘要

据报道，血管性血友病（VWD）是最常见的遗传性出血性疾病，也可作为一种获得性综合征（AVWS）出现。这些疾病是由于血浆蛋白血管性血友病因子（VWF）的缺陷和/或缺乏而产生的。VWF相关疾病的实验室检测需要评估VWF水平和VWF活性，由于VWF为预防出血发挥多种功能，后者需要进行多种检测。本文描述了一种通过VWF：因子VIII结合（VWF：FVIIIB）评估VWF活性的方案。此类检测通过对VWF蛋白与FVIII的粘附进行定量评估来确定VWF活性，而这正是2N型VWD中丧失的活性。因此，该检测对于识别或排除2N型VWD至关重要。最常用于VWF：FVIIIB的检测包括酶联免疫吸附测定（ELISA），本章将对此类检测进行描述。