Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis

Moreno-Castano A. B.; Ramos A.; Pino M.; Parra R.; Altisent C.; Vidal F.; Corrales I; Borras N.; Torramade-Moix S.; Palomo M.; Escolar G.; Diaz-Ricart M.

首页> 外文期刊>Platelets >Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis

【24h】

Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis

机译：von Willebrand病的诊断挑战。两种患者重点对多聚体和分子分析的报告

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Identification of qualitative variants of von Willebrand disease (VWD) can be a diagnostic challenge because of discrepant results obtained in the multiple laboratory tests available for its appropriate classification. We report two cases of infrequent inherited variants of VWD with unclear preliminary results with the test panel available at the time of first consultation and that were finally diagnosed as a VWD type 2A/IID with a c.8318 G > C, p.Cys2773Ser mutation and a VWD type 2M with c.4225 T > G, p.Val1409Phe mutation, respectively. The description of these two cases highlights that despite the limited diagnostic panel for the evaluation of von Willebrand Factor (VWF) functionality, the multimeric analysis and genetic family studies were fundamental tools to achieve the final diagnosis.

机译：由于在多个实验室试验中获得的结果不一致，因此识别血管性血友病（VWD）的定性变异可能是一个诊断挑战。我们报告了两例罕见的VWD遗传变异病例，首次会诊时可用的检测小组初步结果不明确，最终诊断为VWD 2A型/IID，分别为c.8318 G>c、p.Cys2773Ser突变和c.4225 T>G、p.Val1409Phe突变的VWD 2M型。这两个病例的描述强调，尽管评估血管性血友病因子（VWF）功能的诊断小组有限，但多聚体分析和基因家族研究是实现最终诊断的基本工具。

著录项

来源
《Platelets》 |2021年第5期|共4页
作者
Moreno-Castano A. B.; Ramos A.; Pino M.; Parra R.; Altisent C.; Vidal F.; Corrales I; Borras N.; Torramade-Moix S.; Palomo M.; Escolar G.; Diaz-Ricart M.;
展开▼
作者单位

Univ Barcelona IDIBAPS Hosp Clin CDB Dept Pathol Hematopathol Hemostasis &

Eritrop Barcelona;

Univ Barcelona IDIBAPS Hosp Clin CDB Dept Pathol Hematopathol Hemostasis &

Eritrop Barcelona;

Univ Barcelona IDIBAPS Hosp Clin CDB Dept Pathol Hematopathol Hemostasis &

Eritrop Barcelona;

Banc Sang &

Teixits Congenital Coagulopathies Dept Barcelona Spain;

Univ Autonoma Barcelona VHIR UAB Vall dHebron Res Inst Med Transfus Barcelona Spain;

Banc Sang &

Teixits Congenital Coagulopathies Dept Barcelona Spain;

Banc Sang &

Teixits Congenital Coagulopathies Dept Barcelona Spain;

Banc Sang &

Teixits Congenital Coagulopathies Dept Barcelona Spain;

Univ Barcelona IDIBAPS Hosp Clin CDB Dept Pathol Hematopathol Hemostasis &

Eritrop Barcelona;

Univ Barcelona IDIBAPS Hosp Clin CDB Dept Pathol Hematopathol Hemostasis &

Eritrop Barcelona;

Univ Barcelona IDIBAPS Hosp Clin CDB Dept Pathol Hematopathol Hemostasis &

Eritrop Barcelona;

Univ Barcelona IDIBAPS Hosp Clin CDB Dept Pathol Hematopathol Hemostasis &

Eritrop Barcelona;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类基础医学;
关键词
2A IID; 2M; von Willebrand disease;

机译：2a iid;2m;von willebrand疾病;

相似文献

外文文献
中文文献
专利

1. Angiosarcomatous component in gliosarcoma: case report and consideration of diagnostic challenge and hemorrhagic propensity [J] . Nancy Jiang, Ramiro Larrazabal, Waleed Alsunbul, 生物医学研究杂志（英文版） . 2020,第002期
2. Angiosarcomatous component in gliosarcoma: case report and consideration of diagnostic challenge and hemorrhagic propensity [J] . Nancy Jiang, Ramiro Larrazabal, Waleed Alsunbul, 生物医学研究杂志：英文版 . 2020,第002期
3. Comprehensive analysis on China''''s National Climate Change Assessment Reports: Action and emphasis [J] . Bing WANG123, Ge HONG2, Chao-Qun CUI12, 工程管理前沿：英文版 . 2019,第001期
4. Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test [J] . Jan Jacques Michiels, Petr Smejkal, Miroslav Penka, Clinical and applied thrombosis/hemostasis : . 2017,第6期

机译：von Willebrand因子多聚体分析和DDAVP挑战试验对von Willebrand 1型和2型疾病的诊断区分
5. Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test [J] . Michiels Jan Jacques, Smejkal Petr, Penka Miroslav, Clinical and applied thrombosis/hemostasis . 2017,第6期

机译：Von Willebrand疾病类型1和2的诊断分化由von Willebrand Figure Multimer分析和DDAVP挑战测试
6. Alveolar soft part sarcoma of lung: report of a unique case with emphasis on diagnostic utility of molecular genetic analysis for TFE3 gene rearrangement and immunohistochemistry for TFE3 antigen expression [J] . Ming Zhao, Qiu Rao, Cuiyun Wu, Diagnostic pathology . 2015,第S1期

机译：肺泡软组织肉瘤：一例特殊病例的报告，着重于分子遗传学分析对TFE3基因重排和免疫组织化学对TFE3抗原表达的诊断作用
7. Thermocouple Testing Methods, Data Analysis and Reporting Calibration Results with Emphasis on Noble Metal Types [C] . Tom Kolat, Tom Harper, Mike Coleman NCSL International Workshop Symposium . 2018

机译：热电偶测试方法，数据分析和报告校准结果强调贵金属类型
8. Molecular scale studies of von Willebrand factor: Surface and shear dependent structure and intra -molecular binding sites. [D] . Raghavachari, Madhusudan. 2000

机译：von Willebrand因子的分子规模研究：表面和剪切依赖性结构以及分子内结合位点。
9. Alveolar soft part sarcoma of lung: report of a unique case with emphasis on diagnostic utility of molecular genetic analysis for TFE3 gene rearrangement and immunohistochemistry for TFE3 antigen expression [O] . Ming Zhao, Qiu Rao, Cuiyun Wu, 2015

机译：肺泡软组织肉瘤：一例特殊病例的报告着重于分子遗传学分析对TFE3基因重排和免疫组织化学对TFE3抗原表达的诊断作用
10. Alveolar soft part sarcoma of lung: report of a unique case with emphasis on diagnostic utility of molecular genetic analysis for TFE3 gene rearrangement and immunohistochemistry for TFE3 antigen expression [O] . 2015

机译：肺泡软组织肉瘤：一例特殊病例的报告，着重于分子遗传学分析对TFE3基因重排和免疫组织化学对TFE3抗原表达的诊断作用
11. Von Willebrand's Disease. [R] . Perry, J. J., Alving, B. M. 1990

机译：冯维勒布兰德病。

Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis

摘要

著录项

相似文献

相关主题

期刊订阅