Portal ven trombozuna sekonder siroz gelişen MTHFR gen mutasyon olgusu
Portal ven trombusu; portal hipertansiyonun sebeplerinden bir tanesidir. Portal venin tıkanması, yavaş ve iyi tolere edilebilen bir durum olabileceği gibi, şiddetli ve potansiyel olarak ölümcül bir durumda olabilir. Trombofili, tromboza eğilim oluşturan durumları tanımlayan bir terimdir. Trombofili çok yaygın bir fenomen değildir ve edinsel ve konjenital sebepleri vardır. Kalıtımsal trombofilik anormallikler, portal ven trombusu gelişiminde rol oynarlar. Bunlar arasında Faktör V Leiden mutasyonu, Protrombin 20210A mutasyonu, protein S ve C eksiklikleri ve antitrombin 3 eksikliği en sık bilinen ve trombofilik hastalarda en sık etiyolojik faktör olarak sorgulanan faktörlerdir. Bu olgu sunumu ile portal ven trombusu bulunan ve karaciğer sirozu ile kliniğimize başvuran, etiyolojik araştırmalar neticesinde MTHFR geni homozigot mutasyonu tespit edilen 37 yaşındaki bayan hastayı sunmayı amaçladık.
A case with MTHFR gene mutation after secondary cirrhosis to portal vein thrombosis
Portal vein thrombosis is one of the causes of portal hypertension. Portal vein thrombosis can be a cause slowly and well tolerance, and severely and mortal. Thrombophilia, forming tendency of thrombosis is a term that describes situations. Thrombophilia is not a very common phenomenon and has acquired or congenital causes. Inherited thrombophilic abnormalities may have a role in the development of portal vein thrombosis. These include the Factor V Leiden and prothrombin 20210A mutation, protein S, C, and antithrombin 3 deficiency is the most common and known thrombophilic patients are questioned as to why the most common etiological factor. In this case presentation, we report a 37 year old woman patient with portal vein thrombosis and to apply our clinic with liver cirrhosis that outcome MTHFR homozygous gene mutation.
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