The Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Hematology Am Soc Hematol Educ Program. 2011;2011:377-83. doi: 10.1182/asheducation-2011.1.377.
Inherited platelet disorders (IPDs) comprise a heterogenous group of diseases that include defects in platelet function and disordered megakaryopoiesis. Some IPDs overlap as both defects in function and thrombopoiesis, resulting in both altered aggregation and/or secretion and thrombocytopenia. This review examines the key features of the presentation of IPDs in children and adults and presents a diagnostic algorithm for the evaluation of these patients. In addition, recent advances in our understanding of the pathophysiology of platelet disorders are addressed, with attention given to some of the novel genetic associations. Finally, treatment options and future therapies are briefly discussed.
遗传性血小板疾病(IPD)包括一组异质性疾病,包括血小板功能缺陷和巨核细胞增生异常。一些 IPD 重叠,因为它们既存在功能缺陷又存在血小板生成障碍,导致聚集和/或分泌改变以及血小板减少。本综述检查了 IPD 在儿童和成人中的表现的主要特征,并提出了用于评估这些患者的诊断算法。此外,还探讨了我们对血小板疾病病理生理学的理解的最新进展,并关注了一些新的遗传关联。最后,简要讨论了治疗选择和未来的治疗方法。