Departments of Pathology and Molecular Medicine, Michael G DeGroote Centre for Learning, McMaster University, 1280 Main Street West, Hamilton, Ontario, Canada.
Expert Rev Hematol. 2011 Apr;4(2):137-41. doi: 10.1586/ehm.11.5.
Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder associated with a unique gain-of-function defect in fibrinolysis. In the past 5 years, there have been important advances in the understanding of the pathogenesis of QPD, including its genetic cause, which is a copy number variation mutation of PLAU, the gene for urokinase plasminogen activator (uPA). QPD is the first bleeding disorder identified to be caused by a PLAU mutation and it is also the first bleeding disorder recognized to result from a gene copy number mutation. The molecular defect of QPD leads to marked overexpression of uPA during megakaryopoiesis, producing profibrinolytic platelets that contain active forms of uPA in their α-granules. This article summarizes expert opinions on the features of QPD and recent advances in the understanding of its pathogenesis and genetic cause.
魁北克血小板功能障碍（QPD）是一种常染色体显性出血性疾病，与纤维蛋白溶解的独特获得性功能缺陷有关。在过去的 5 年中，人们对 QPD 的发病机制有了重要的认识进展，包括其遗传原因，即尿激酶型纤溶酶原激活物（uPA）基因 PLAU 的拷贝数变异突变。QPD 是第一个被确定为 PLAU 突变引起的出血性疾病，也是第一个被认为由基因拷贝数突变引起的出血性疾病。QPD 的分子缺陷导致巨核细胞生成过程中 uPA 的过度表达，产生具有纤维蛋白溶解活性的血小板，其α-颗粒中含有 uPA 的活性形式。本文总结了专家对 QPD 特征以及对其发病机制和遗传原因的认识进展的意见。
