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Integration of molecular and clinical data of 40 unrelated von Willebrand Disease families in a Spanish locus-specific mutation database: first release including 58 mutations.40个非亲缘性血管性血友病（von Willebrand Disease）家族的分子和临床数据整合到西班牙位点特异性突变数据库：首次发布，包含58种突变。
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本文引用的文献

1
Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications.常染色体显性遗传性C1149R型血管性血友病：表型特征及其意义。
Haematologica. 2009 May;94(5):679-86. doi: 10.3324/haematol.2008.003301. Epub 2009 Mar 13.
2
Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.2B型血管性血友病患者血小板减少症的临床和分子预测因素及出血风险：一项对67例患者的队列研究
Blood. 2009 Jan 15;113(3):526-34. doi: 10.1182/blood-2008-04-152280. Epub 2008 Sep 19.
3
Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).在欧洲研究中通过检测血管性血友病因子原肽鉴定血管性血友病因子生存期缩短的1型血管性血友病患者：1型血管性血友病（MCMDM-1VWD）诊断和管理的分子及临床标志物
Blood. 2008 May 15;111(10):4979-85. doi: 10.1182/blood-2007-09-110940. Epub 2008 Mar 14.
4
Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD.1型血管性血友病（VWD）中去氨加压素的反应受基因型和表型影响：欧洲MCMDM-1VWD研究结果
Blood. 2008 Apr 1;111(7):3531-9. doi: 10.1182/blood-2007-08-109231. Epub 2008 Jan 29.
5
Evidence-based diagnosis of type 1 von Willebrand disease: a Bayes theorem approach.1型血管性血友病的循证诊断：贝叶斯定理方法
Blood. 2008 Apr 15;111(8):3998-4003. doi: 10.1182/blood-2007-08-105940. Epub 2008 Jan 10.
6
Management of inherited von Willebrand disease in 2007.2007年遗传性血管性血友病的管理
Ann Med. 2007;39(5):346-58. doi: 10.1080/07853890701513738.
7
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.1型血管性血友病的突变谱：一项加拿大队列研究的结果。
Blood. 2007 Jan 1;109(1):145-54. doi: 10.1182/blood-2006-05-021105..
8
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).在欧洲开展的“1型血管性血友病诊断与管理的分子和临床标志物研究（MCMDM-1VWD）”中，一组历史上被诊断为1型血管性血友病的家族的表型和基因型。
Blood. 2007 Jan 1;109(1):112-21. doi: 10.1182/blood-2006-05-020784. Epub 2006 Sep 19.
9
Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor.血管性血友病的病理生理学与分类更新：血管性血友病因子小组委员会报告
J Thromb Haemost. 2006 Oct;4(10):2103-14. doi: 10.1111/j.1538-7836.2006.02146.x. Epub 2006 Aug 2.
10
A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD).1型血管性血友病出血症状的定量分析：一项欧洲多中心研究（MCMDM-1 VWD）的结果
J Thromb Haemost. 2006 Apr;4(4):766-73. doi: 10.1111/j.1538-7836.2006.01847.x.

用于正确分类血管性血友病的临床及实验室指标与分子标志物

Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease.

作者信息

Federici Augusto B, Canciani Maria T

出版信息

Haematologica. 2009 May;94(5):610-5. doi: 10.3324/haematol.2009.005751.

DOI:10.3324/haematol.2009.005751
PMID:19407316
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2675671/
Abstract

von Willebrand disease (VWD) is the most common inherited bleeding disorder. In this perspective article, Drs. Federici and Canciani review how correlating the clinical, laboratory and genetic features of von Willebrand disease has led to improved understanding of its pathophysiology. They show how this has rationalized classification, which in turn can be used to improve treatment of these patients.

摘要

血管性血友病（VWD）是最常见的遗传性出血性疾病。在这篇观点文章中，费代里西博士和坎恰尼博士回顾了将血管性血友病的临床、实验室和基因特征相互关联是如何增进对其病理生理学的理解的。他们展示了这如何使分类合理化，而分类反过来又可用于改善这些患者的治疗。