Diz-Küçükkaya Reyhan
1Department of Internal Medicine, Division of Hematology, Faculty of Medicine, Istanbul Bilim University, Istanbul, Turkey.
Hematology Am Soc Hematol Educ Program. 2013;2013:268-75. doi: 10.1182/asheducation-2013.1.268.
Inherited platelet disorders (IPDs) are a heterogeneous group of diseases affecting platelet production, morphology, and function. The degree of thrombocytopenia and functional abnormality of platelets determines the clinical manifestations. Although severe deficiencies may cause excessive bleeding beginning in early childhood, most of IPDs have mild bleeding tendencies and therefore are not always easy to distinguish from acquired platelet disorders. The diagnosis of IPD may require extensive laboratory investigation, because current routine laboratory tests are not satisfactory for differential diagnosis in some cases, and most of the specific tests are not readily available in many countries. This review summarizes the classification and clinical and molecular characteristics of known IPDs, including Bernard-Soulier syndrome and Glanzmann thrombasthenia, with a focus on current challenges in the laboratory diagnosis and management of bleeding in these patients.
遗传性血小板疾病（IPDs）是一组异质性疾病，影响血小板的生成、形态和功能。血小板减少的程度和血小板的功能异常决定了临床表现。尽管严重缺陷可能在儿童早期就导致过度出血，但大多数遗传性血小板疾病的出血倾向较轻，因此并不总是容易与获得性血小板疾病区分开来。遗传性血小板疾病的诊断可能需要广泛的实验室检查，因为目前的常规实验室检查在某些情况下对鉴别诊断并不令人满意，而且大多数特异性检查在许多国家都不容易获得。本综述总结了已知遗传性血小板疾病的分类、临床和分子特征，包括伯纳德-索利尔综合征和血小板无力症，重点关注这些患者实验室诊断和出血管理方面的当前挑战。
