Ön mediastende hematomu olan ve Faktör V Leiden mutasyonu bulunan Glanzman Trombastenili bir olgu sunumu

Hüseyin Tokgöz, Ümran Çalişkan, Tuğçe Duran, Kaniye Zeynep ÇALIŞKAN SAK
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Abstract

Glanzmann thrombasthenia (GT) is an autosomal recessive disease associated with platelet aggregation dysfunction with normal platelet count, causing bleeding diathesis. GT is characterized by decreased levels or decreased function of the glycoprotein IIb-IIIa (GPIIb-IIIa) complex and therefore results in an increased tendency to bleeding as the aggregation phase of primary hemostasis cannot be sufficiently formed. Factor V Leiden mutation is a genetic mutation predisposing to thrombophilia. We present this case in which Factor V and Glanzmann thrombasthenia with hematoma in the anterior mediastinum are rarely seen together.
Glanzmann血栓减少症(GT)是一种常染色体隐性遗传病,与血小板计数正常的血小板聚集功能障碍相关,可引起出血。GT的特征是糖蛋白IIb-IIIa (GPIIb-IIIa)复合物的水平降低或功能下降,因此由于初级止血的聚集期不能充分形成,导致出血倾向增加。因子V Leiden突变是一种易致血栓形成的基因突变。我们提出这个病例,其中因子V和格兰兹曼血栓合并血肿在前纵隔是罕见的。
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