Ruhsen Öncel ÖCAL, Dilcan KOTAN, Ayhan BÖLÜK, Zeynep Özözen AYAS

Serebral Venöz Trombozlu Hastalarda Multipl Trombotik Gen Mutasyonları: Üç Olgu Sunumu ve Literatürün Gözden Geçirilmesi

Serebral venöz tromboz (SVT) daha çok genç erişkin hastalarda görülmekle birlikte her yaş grubunda rastlanılabilen, çok çeşitli klinik bulgularla seyreden, genellikle iyi prognoza sahip bir hastalıktır. Etiyolojinin belirlenmesinde geniş çaplı bir araştırma gerekmektedir. SVT için belirgin bir risk faktörü varlığında bile genetik trombotik faktörlerin her hastada sistematik olarak araştırılması gereklidir. Trombotik gen mutasyonu koagülasyon bozukluğuna neden olan önemli herediter nedenler arasındadır. Tekli gen mutasyonu görülebildiği gibi, daha nadir olarak multipl gen mutasyonları da saptanabilmektedir. Burada multipl gen mutasyonlarına sahip serebral venöz tromboz nedeni ile takip edilen üç hastadan bahsedilecektir.

Multiple Thrombotic Gene Mutations in Patients with Cerebral Venous Thrombosis: Three Case Reports and Literature Review

Although cerebral venous thrombosis (CVT) is mostly seen in young adults, it is a disease that affects all age groups, has a broad range of symptoms, and usually carries a good prognosis. Extensive tests and examinations are needed to determine its etiology. Even in the presence of a marked risk factor, genetic thrombotic factors should be systematically investigated. Thrombotic important hereditary causes of coagulation defects. Single gene mutations may be observed, as well as multiple gene mutations can rarely be detected. Here, we report three patients with cerebral venous thrombosis who had multiple gene mutations.

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