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使用Hydrasys半自动分析仪对血管性血友病因子进行多聚体分析——单中心经验

Multimer Analysis of Von Willebrand Factor in Von Willebrand Disease with a Hydrasys Semi-Automatic Analyzer-Single-Center Experience.

作者信息

Skornova Ingrid, Simurda Tomas, Stasko Jan, Zolkova Jana, Sokol Juraj, Holly Pavol, Dobrotova Miroslava, Plamenova Ivana, Hudecek Jan, Brunclikova Monika, Stryckova Alena, Kubisz Peter

机构信息

National Center of Hemostasis and Thrombosis, Department of Hematology and Transfusiology, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin and University Hospital in Martin, 03601 Martin, Slovakia.

出版信息

Diagnostics (Basel). 2021 Nov 20;11(11):2153. doi: 10.3390/diagnostics11112153.

Abstract

von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder. This disorder develops as a result of defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for VWF-related disorders requires the assessment of both VWF level and VWF activity, the latter requiring multiple assays. As an additional step, an evaluation of VWF structural features by multimer analysis is useful in selective investigations. Multimer analysis is also important for the selection of a suitable VWF therapy preparation (desmopressin, VWF/FVIII concentrate, recombinant VWF) and the determination of the correct dose for the patient. Based on clinical and laboratory findings, including the analysis of VWF multimers, we classified our patients into individual types of VWD. Our study group included 58 patients. The study group consisted of 66% (38 patients) with VWD type 1, 5% (3 patients) with VWD type 2, 7% (4 patients) with VWD type 3, 5% (3 patients) with mixed type 1/2A VWD, and 17% (10 patients) comprising an unclassified group. In this article, we provide an overview of our practical experience using a new complementary method-the analysis of von Willebrand factor multimers with a semi-automatic analyzer Hydrasys 2 scan. We explain the principle, procedure, advantages, and pitfalls associated with the introduction of the VWF multimer analysis methodology into standard VWD diagnostics.

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。这种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。对VWF相关疾病进行实验室检测需要评估VWF水平和VWF活性,后者需要进行多种检测。作为额外的步骤,通过多聚体分析评估VWF结构特征在选择性研究中很有用。多聚体分析对于选择合适的VWF治疗制剂(去氨加压素、VWF/FVIII浓缩物、重组VWF)以及确定患者的正确剂量也很重要。基于临床和实验室检查结果,包括VWF多聚体分析,我们将患者分为不同类型的VWD。我们的研究组包括58名患者。研究组中,1型VWD患者占66%(38例),2型VWD患者占5%(3例),3型VWD患者占7%(4例),1/2A混合型VWD患者占5%(3例),未分类组患者占17%(10例)。在本文中,我们概述了使用一种新的补充方法——用半自动分析仪Hydrasys 2扫描分析血管性血友病因子多聚体的实践经验。我们解释了将VWF多聚体分析方法引入标准VWD诊断的原理、步骤、优点和陷阱。

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