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血管性血友病的实验室诊断中的危险、问题和进展。

Perils, problems, and progress in laboratory diagnosis of von Willebrand disease.

机构信息

Division of Pediatric Hematology/Oncology, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.

出版信息

Semin Thromb Hemost. 2014 Feb;40(1):41-8. doi: 10.1055/s-0033-1363166. Epub 2013 Dec 12.

DOI:10.1055/s-0033-1363166
PMID:24338593
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3987108/
Abstract

Diagnosis of von Willebrand disease (VWD) merits consideration of personal and family history of bleeding symptoms along with confirmatory laboratory testing. As the latter yields quantifiable results, overreliance on a laboratory diagnosis may occur. However, existing tests for VWD contain potential sources for error. Both intrinsic and extrinsic factors affecting these assays can contribute to either falsely normal or falsely abnormal results. This article will discuss the present available assays as well as new developments in diagnostic testing. A clear understanding of the limitations of VWD testing is helpful for ensuring the correct diagnosis of affected patients.

摘要

诊断血管性血友病(VWD)需要考虑个人和家族的出血症状史,并结合确证性实验室检测。由于后者可提供定量结果,因此可能会过度依赖实验室诊断。然而,现有的 VWD 检测存在潜在的误差源。影响这些检测的内在和外在因素都可能导致结果异常或正常。本文将讨论目前可用的检测方法以及诊断检测的新进展。清楚了解 VWD 检测的局限性有助于确保对受影响患者的正确诊断。

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本文引用的文献

1
Validation of a new panel of automated chemiluminescence assays for von Willebrand factor antigen and activity in the screening for von Willebrand disease.新型全自动化学发光法检测血管性血友病因子抗原和活性在血管性血友病筛查中的验证。
Int J Lab Hematol. 2013 Oct;35(5):555-65. doi: 10.1111/ijlh.12087. Epub 2013 Apr 3.
2
The C-type lectin receptor CLEC4M binds, internalizes, and clears von Willebrand factor and contributes to the variation in plasma von Willebrand factor levels.C 型凝集素受体 CLEC4M 结合、内化和清除血管性血友病因子,并导致血浆血管性血友病因子水平的变化。
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No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation.未发现携带 D1472H 序列变异的 1 型 VWD 患者出血增加。
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4
Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease.2M 型血管性血友病中血小板和胶原结合缺陷的变异性。
Haemophilia. 2013 Jul;19(4):590-4. doi: 10.1111/hae.12117. Epub 2013 Mar 18.
5
Collagen binding provides a sensitive screen for variant von Willebrand disease.胶原结合为变异型血管性血友病提供了一种敏感的筛选方法。
Clin Chem. 2013 Apr;59(4):684-91. doi: 10.1373/clinchem.2012.199000. Epub 2013 Jan 22.
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A comparative evaluation of a new automated assay for von Willebrand factor activity.一种新的自动化 von Willebrand 因子活性检测方法的比较评估。
Haemophilia. 2013 Mar;19(2):338-42. doi: 10.1111/hae.12064. Epub 2012 Dec 4.
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Comparison of type I, type III and type VI collagen binding assays in diagnosis of von Willebrand disease.Ⅰ型、Ⅲ型和Ⅵ型胶原结合试验在血管性血友病诊断中的比较。
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Critical von Willebrand factor A1 domain residues influence type VI collagen binding.关键的血管性血友病因子 A1 结构域残基影响与 VI 型胶原的结合。
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Differential sensitivity of von Willebrand factor (VWF) 'activity' assays to large and small VWF molecular weight forms: a cross-laboratory study comparing ristocetin cofactor, collagen-binding and mAb-based assays.血管性血友病因子(VWF)“活性”检测对大、小分子 VWF 分子量形式的敏感性差异:比较瑞斯托菌素辅因子、胶原结合和单抗检测的实验室间研究。
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