Portal ven trombozuna sekonder siroz gelişen MTHFR gen mutasyon olgusu

Year 2017, Volume: 9 Issue: 3, 146 - 149, 01.09.2017

Kenan Çadırcı , Ahmet Yalçın

https://doi.org/10.21601/ortadogutipdergisi.277896

Abstract

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.

Keywords

Portal ven, Kalıtsal trombofili, Tromboz

A case with MTHFR gene mutation after secondary cirrhosis to portal vein thrombosis

Abstract

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.

Keywords

Portal vein, Hereditary Thrombophilia, thrombosis

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