Streif W, Knöfler R, Eberl W
Department of Pediatrics, Innsbruck Medical University, Innsbruck, Austria.
Klin Padiatr. 2010 May;222(3):203-8. doi: 10.1055/s-0030-1249660. Epub 2010 May 31.
Hereditary disorders of platelet function are a heterogeneous group of diseases that are often complex and tend to go undetected until clinically relevant bleeding occurs. Hallmarks are epistaxis, easy bruising, mucous membrane bleeding, perioperative bleeding and menorrhagia. Bleeding may be intermittent and unpredictable. After decades of successful research on platelet biology and genetics, research findings have not been satisfactorily translated to clinical practice. The lack of robust and well- standardized test systems continues to make the diagnosis of platelet defects cumbersome for the practising clinician. Patient history and description of clinical bleeding symptoms are essential. Exclusion of von Willebrand disease, platelet count and investigation of blood smears may provide a tentative diagnosis. Light transmission aggregometry is still considered the gold standard for assessing platelet function. Due to the wide range of possible genetic defects molecular biological analyses can complement but do not substitute for other tests. The true incidence of inherited disorders of platelet function is unknown. A survey in Germany revealed that receptor-defects including Glanzmann's thrombasthenia and Bernard-Soulier syndrome and aspirin-like defects were the most frequently diagnosed platelet disorders. Of affected children 60% presented with mild and 40% with moderate to severe bleeding tendency. Epistaxis, cutaneous and mucous membrane bleeding were the most frequent symptoms. The paediatric competence network of the GTH e.V. comprises 44 collaborating centres that are caregivers to over 150 children with well-defined inherited platelet defects. A major goal of this network is to promote diagnosis of children with inherited disorders of platelet function.
遗传性血小板功能障碍是一组异质性疾病，通常较为复杂，往往在出现临床相关出血之前未被发现。其特征包括鼻出血、容易瘀伤、黏膜出血、围手术期出血和月经过多。出血可能是间歇性的且不可预测。经过数十年对血小板生物学和遗传学的成功研究，研究结果尚未令人满意地转化为临床实践。缺乏强大且标准化的检测系统，使得临床医生诊断血小板缺陷仍然很麻烦。患者病史和临床出血症状的描述至关重要。排除血管性血友病、血小板计数以及血液涂片检查可能提供初步诊断。光透射聚集法仍被认为是评估血小板功能的金标准。由于可能的基因缺陷范围广泛，分子生物学分析可以作为补充，但不能替代其他检测。遗传性血小板功能障碍的真实发病率尚不清楚。德国的一项调查显示，包括Glanzmann血小板无力症和Bernard-Soulier综合征在内的受体缺陷以及阿司匹林样缺陷是最常被诊断出的血小板疾病。在受影响的儿童中，60%表现为轻度出血倾向，40%表现为中度至重度出血倾向。鼻出血、皮肤和黏膜出血是最常见的症状。德国血栓与止血学会（GTH e.V.）的儿科能力网络由44个合作中心组成，这些中心负责照顾150多名患有明确遗传性血小板缺陷的儿童。该网络的一个主要目标是促进对患有遗传性血小板功能障碍儿童的诊断。
