Glanzmann thrombasthenia.
Glanzmann thrombasthenia.
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DOI：
10.1186/1750-1172-1-10
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发表时间：
2006-04-06
影响因子：
3.7
通讯作者：
Nurden AT
中科院分区：
文献类型：
--
作者：
Nurden AT
Glanzmann血栓减少症（GT）是一种罕见的常染色体隐性出血综合征，影响巨核细胞谱系，其特征是缺乏血小板聚集。分子基础与α ib β3整合素的定量和/或定性异常有关。该受体介导粘附蛋白的结合，粘附聚集的血小板，并确保在血管损伤部位形成血栓。GT与临床变异性有关：一些患者只有轻微的瘀伤，而另一些患者则有频繁、严重和可能致命的出血。GT的出血部位明确：紫癜、鼻出血、牙龈出血和月经过多几乎是不变的特征；消化道出血和血尿较少见。在大多数情况下，出血症状在出生后迅速显现，即使GT偶尔在以后的生活中才被诊断出来。对所有生理刺激均无血小板聚集，且血小板计数和形态正常的皮肤粘膜出血患者，应怀疑诊断。血小板α ib β3缺乏或无功能应始终予以确认，例如流式细胞术。为了避免血小板异体免疫，治疗管理必须包括，如果可能的话，局部止血手术和/或去氨加压素（DDAVP）给药。如果这些措施无效，或为了防止手术期间出血，可能需要输注hla相容的血小板浓缩物。重组VIIa因子的施用是一种越来越常用的治疗方法。GT可能是一种严重的出血性疾病，但在精心的支持治疗下预后良好。
Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. The molecular basis is linked to quantitative and/or qualitative abnormalities of αIIbβ3 integrin. This receptor mediates the binding of adhesive proteins that attach aggregating platelets and ensure thrombus formation at sites of injury in blood vessels. GT is associated with clinical variability: some patients have only minimal bruising while others have frequent, severe and potentially fatal hemorrhages. The site of bleeding in GT is clearly defined: purpura, epistaxis, gingival hemorrhage, and menorrhagia are nearly constant features; gastrointestinal bleeding and hematuria are less common. In most cases, bleeding symptoms manifest rapidly after birth, even if GT is occasionally only diagnosed in later life. Diagnosis should be suspected in patients with mucocutaneous bleeding with absent platelet aggregation in response to all physiologic stimuli, and a normal platelet count and morphology. Platelet αIIbβ3 deficiency or nonfunction should always be confirmed, for example by flow cytometry. In order to avoid platelet alloimmunisation, therapeutic management must include, if possible, local hemostatic procedures and/or desmopressin (DDAVP) administration. Transfusion of HLA-compatible platelet concentrates may be necessary if these measures are ineffective, or to prevent bleeding during surgery. Administration of recombinant factor VIIa is an increasingly used therapeutic alternative. GT can be a severe hemorrhagic disease, however the prognosis is excellent with careful supportive care.
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