The Australian Centre for Blood Diseases, Monash University, Department of Haematology, Alfred Hospital, Melbourne, Victoria, Australia.
Br J Haematol. 2009 Nov;147(4):415-30. doi: 10.1111/j.1365-2141.2009.07819.x. Epub 2009 Jul 28.
Considerable progress has been made over the last two decades in delineating the key molecular events regulating the haemostatic function of platelets. Much of this new insight has been derived from the study of mouse models, in which the expression or structure of one or more platelet proteins has been genetically altered. Despite these advances on the research front, clinical progress in diagnosing patients with unexplained surgical bleeding or recurrent haemorrhage from mucocutaneous sites has been comparatively limited. There is a dearth of literature available to help physicians integrate and apply the burgeoning knowledge on platelet biology to diagnosing patients with atypical or unexplained platelet dysfunction. The purpose of this review is to summarise the major primary platelet disorders relevant to pathological bleeding in humans (excluding those primarily due to thrombocytopenia or acquired functional disorders), with a focus on lesions identified in mouse models that could represent candidate molecules for study in patients with impaired platelet function.
在过去的二十年中,在阐明调节血小板止血功能的关键分子事件方面取得了相当大的进展。这些新的认识主要来自于对小鼠模型的研究,在这些模型中,一个或多个血小板蛋白的表达或结构发生了遗传改变。尽管在研究方面取得了这些进展,但在诊断不明原因手术出血或粘膜部位反复出血的患者方面,临床进展相对有限。目前可用于帮助医生整合和应用日益增多的血小板生物学知识来诊断非典型或不明原因血小板功能障碍患者的文献很少。本文的目的是总结与人类病理性出血相关的主要原发性血小板疾病(不包括主要由血小板减少或获得性功能障碍引起的疾病),重点介绍在小鼠模型中发现的病变,这些病变可能代表候选分子,用于研究血小板功能受损的患者。