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

Yıl 2023, , 17 - 22, 28.04.2023

Hüseyin Tokgöz , Ümran Çalışkan , Tuğçe Duran , Kaniye Zeynep Çalışkan Sak

https://doi.org/10.59244/ktokusbd.1173506

Öz

Glanzmann trombasteni (GT), normal trombosit sayısı ile trombosit agregasyon disfonksiyonu ile ilişkili, kanama diyatezi oluşturan otozomal resesif geçişli bir hastalıktır. GT, glikoprotein IIb-IIIa (GPIIb-IIIa) kompleksinin azalmış seviyeleri veya azalmış işlevi ile karakterize edilir ve bu nedenle, birincil hemostazın kümelenme fazı yeterince oluşturulamadığından artan kanama eğilimi ile sonuçlanır. Faktör V Leiden mutasyonu, trombofili için yatkınlık oluşturan genetik bir mutasyondur. Faktör V ve Glanzmann trombastisinin ön mediastende hematom ile birlikte nadiren birlikte görüldüğü bu olguyu sunuyoruz.

Anahtar Kelimeler

Factor V Leiden, Glanzmann trombasteni, Hematom, Trombofili

A case report of Glanzman Thrombasthenia with anterior mediastinal hematoma and Factor V Leiden mutation

Öz

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.

Anahtar Kelimeler

Glanzmann thrombasthenia, Factor V Leiden, Hematoma, Thrombophilia

Kaynakça

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