Ergül BERBER, Suar Çakı KILIÇ, Utku AYGÜNEŞ

p.Cys398Tyr Mutasyonuna bağlı Faktör XI Eksikliği olan hastada spontan tromboz

Yayın Aralığı: Yılda 4 Sayı
Yayıncı: Cumhuriyet Üniversitesi Tıp Fakültesi

Faktör XI (FXI) kanda zimojen halde dolaşan, serin proteaz grubundan glikoprotein yapıda bir hemostatic plazma proteinidir. Burada çocukluk çağında FXI eksikliği olan ve spontan iskemik inme geçiren bir hasta sunulmaktadır. Homozigot bir mutasyona bağlı FXI eksikliği saptanan hastada görülen tromboembolik fenomen nadir bir örnek olması ve FXI’in aynı zamanda antikoagulan etkisi olduğunu vurgulamak amacıyla sunulmuştur.

Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation

Factor XI (FXI) is a haemostatic plasma glycoprotein which circulates as a serine protease zymogen of activated FXI.We present an example of a patient with severe FXI deficiency who is not protected against thrombosis and developed aspontaneous ischaemic stroke at a very early age. Our case adds to the small number of patients who spontaneouslydeveloped cerebral venous thrombosis despite being homozygous for a severe FXI deficiency mutation.

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