How should we test for nonsevere heritable platelet function disorders?
How should we test for nonsevere heritable platelet function disorders?
复制标题
我们应该如何检测非严重遗传性血小板功能障碍？
DOI：
10.1111/ijlh.12211
复制
发表时间：
2014
影响因子：
3
通讯作者：
Norman JE
中科院分区：
文献类型：
--
作者：
Norman JE
遗传性血小板功能障碍（HPFD）是一组具有不同临床和实验室特征的出血性疾病。与严重表型疾病，血小板无力症和Bernard-Soulier综合征相反，大多数非严重HPFD的特征不完全。这是诊断试验标准化不佳和对非重度HPFD不同亚组的诊断标准缺乏共识的结果。区分患有非重度HPFD的患者与非重度HPFD的患者是诊断的重要第一步，可以通过出血评估工具和筛选测试（如血小板功能分析仪-100）进行辅助。然而，高诊断准确性只能实现与光传输聚集（LTA）和分泌测试，精简激动剂面板可能是类似的实用性扩展面板。这些测试方法的标准化和质量保证对于可靠的诊断至关重要。LTA和分泌试验通常也可用于鉴别非重度HPFD患者的血小板通路缺陷。这种策略有时也可以通过涉及单个候选蛋白质和基因来实现准确的诊断。下一代测序可能提供一种快速诊断非严重HPFD的方法，尽管必须采取严格的策略来区分致病基因缺陷和旁观者变异。
Heritable platelet function disorders (HPFD) are a heterogeneous group of bleeding disorders with diverse clinical and laboratory characteristics. In contrast to the severe phenotype disorders, Glanzmann thrombasthenia and Bernard–Soulier syndrome, most nonsevere HPFD are incompletely characterized. This is a consequence of the poor standardization of diagnostic tests and of the lack of consensus about diagnostic criteria for the different subgroups of nonsevere HPFD. Distinguishing patients who have a nonsevere HPFD from those who do not is an essential first step in diagnosis which may be aided by bleeding assessment tools and screening tests such as the Platelet Function Analyser‐100. However, high diagnostic accuracy can only be achieved with both light transmission aggregation (LTA) and secretion tests, for which streamlined agonist panels may be of similar utility to extended panels. Standardization of the methodology of these tests and quality assurance are essential for robust diagnosis. Identification of which platelet pathway is defective in patients with nonsevere HPFD is also usually possible with LTA and secretion tests. This strategy also sometimes enables exact diagnosis by implicating a single candidate protein and gene. Next‐generation sequencing may offer a rapid approach to diagnosis of nonsevere HPFD, although rigorous strategies must be adopted to distinguish causative gene defects from bystander variations.
登录
查看更多内容
血小板功能障碍基因图谱的表型方法
DOI：
--
发表时间：
2010
期刊：
Hämostaseologie
影响因子：
--
作者：
S. Watson;M. Daly;B. Dawood;P. Gissen;M. Makris;S. Mundell;Jonathan J. Wilde;A. Mumford
通讯作者：
A. Mumford
富含血小板血浆中的血小板聚集测试：旨在制定该领域标准的程序描述。
影响因子：
3.5
作者：
Zhou,Lan;Schmaier,AlvinH
通讯作者：
Schmaier,AlvinH
血小板功能障碍检测临床实验室实践的差异
影响因子：
6.7
作者：
K. Moffat;M. Ledford;W. Nichols;C. Hayward
通讯作者：
C. Hayward
影响因子：
10.4
作者：
Cattaneo, M.;Cerletti, C.;Michelson, A. D.
通讯作者：
Michelson, A. D.
影响因子：
10.4
作者：
Mumford, A. D.;Nisar, S.;Gaussem, P.
通讯作者：
Gaussem, P.