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Prothrombin Gene Mutation As a Risk Factor In Young Ischemic Stroke: a Case Report

Yıl 2015, Sayı: 1, 52 - 54, 01.03.2015

Öz

Stroke at young age is the stroke seen under the age of 45 years with the incidence range between 2.5 and 40/100.000. Stroke at young age is account for 4-10% of overall stroke cases. The majority of strokes in young adults are of ischemic origin. The causes of young ischemic strokes are different than those of advanced age and many analyses may be required to find out the underlying reason. These analyses include cerebral angiography, transesophageal echocardiography, tests to detect coagulation disorders, and investigation of collagen vascular diseases. Studies have most frequently focused on FV Leiden, MTHFR C677T and Prothrombin G20210A, which are among prothrombotic gene mutations in thrombophilia panel. Herein, a young female case with young ischemic stroke, in which heterozygote polymorphism of prothrombotic gene has been detected, was presented

Kaynakça

  • 1. Nedeltchev K, Maur TA, Georgiadis D, et al. Ischemic stroke in young adults: predictors of outcome and recurrence. J Neurol Neurosurg Psychiatry. 2005;76:191-195.
  • 2. Lalouschek W, Schillinger M, Hsieh K, Endler G, Tentschert S, Lang W, Cheng S, Mannhalter C. Matched Case-Control Study on Factor V Leiden and the Prothrombin G20210A Mutation in Patients With Ischemic Stroke/Transient Ischemic Attack Up to the Age of 60 Years. Stroke. 2005;36:1405-9.
  • 3. Belvis R, Santamaría A, Marti-Fàbregas J, Cocho D, Borrell M, Fontcuberta J, Martí-Vilalta JL. Diagnostic yield of prothrombotic state studies in cryptogenic stroke. Acta Neurol Scand. 2006;114:250-3.
  • 4. Xin XY, Song YY, Ma JF, Fan CN, Ding JQ, Yang GY et al. Gene polymorphisms and risk of adult early-onset ischemic stroke: a meta-analysis. Tromb Res. 2009;124:619-24.
  • 5. Martinelli I, Taioli E, Bucciarelli P, Akhavan S, Mannucci PM: Interaction between the G20210A mutation of the prothrombin gene and oral contraceptive use in deep vein thrombosis. Arterioscler Thromb Vasc Biol 1999;19:700–703.
  • 6. Simioni P, Prandoni P, Lensing AW, Manfrin D, Tormene D, Gavasso S, et al. Risk for subsequent venous thromboembolic complications in carriers of the prothrombin or the factor V gene mutation with a first episode of deep-vein thrombosis. Blood 2000;96:3329-33.
  • 7. Miles JS, Miletich JP, Goldhaber SZ, Hennekens CH, Ridker PM. G20210A mutation in the prothrombin gene and the risk of recurrent venous thromboembolism. J Am Coll Cardiol 2001;37:215-8.
  • 8. De Stefano V, Chiusolo P, Paciaroni K, Casorelli I, Rossi E, Molinari M, et al.Prothrombin G20210A mutant genotype is a risk factor for cerebrovascular ischemic disease in young patients. Blood 1998;91:3562-5.

GENÇ İSKEMIK İNMEDE RİSK FAKTÖRÜ OLARAK PROTROMBİN GEN MUTASYONU: BİR OLGU SUNUMU

Yıl 2015, Sayı: 1, 52 - 54, 01.03.2015

Öz

Genç inme, kırkbeş yaşın altında görülen inmelerdir ve inme insidansı 2,5 -40/100.000 arasında değişmektedir. Bütün inmelerin %4+-10 kadarı gençlerde görülür. Genç erişkindeki inmelerin çoğu iskemik orjinlidir. Genç iskemik inme nedenleri ileri yaşa oranla daha farklıdır ve altta yatan nedeni bulmaya yönelik pekçok araştırma yapmak gerekebilir. Bu araştırmalar serebral anjiyografi, transözefageyal ekokardiyografi, koagulasyon bozukluklarını tespit için testler ve kollajen vasküler hastalıkların araştırılması gibi tetkikleri içermektedir. Trombofili panelindeki protrombotik mutasyonlardan FV Leiden, MTHFR C677T ve Protrombin G20210A üzerinde şimdiye kadar daha yoğun çalışılmıştır. Burada, protrombotik gen heterozigot polimorfizimi tespit edilen genç iskemik inmeli bir kadın olgu sunulmaktadır

Kaynakça

  • 1. Nedeltchev K, Maur TA, Georgiadis D, et al. Ischemic stroke in young adults: predictors of outcome and recurrence. J Neurol Neurosurg Psychiatry. 2005;76:191-195.
  • 2. Lalouschek W, Schillinger M, Hsieh K, Endler G, Tentschert S, Lang W, Cheng S, Mannhalter C. Matched Case-Control Study on Factor V Leiden and the Prothrombin G20210A Mutation in Patients With Ischemic Stroke/Transient Ischemic Attack Up to the Age of 60 Years. Stroke. 2005;36:1405-9.
  • 3. Belvis R, Santamaría A, Marti-Fàbregas J, Cocho D, Borrell M, Fontcuberta J, Martí-Vilalta JL. Diagnostic yield of prothrombotic state studies in cryptogenic stroke. Acta Neurol Scand. 2006;114:250-3.
  • 4. Xin XY, Song YY, Ma JF, Fan CN, Ding JQ, Yang GY et al. Gene polymorphisms and risk of adult early-onset ischemic stroke: a meta-analysis. Tromb Res. 2009;124:619-24.
  • 5. Martinelli I, Taioli E, Bucciarelli P, Akhavan S, Mannucci PM: Interaction between the G20210A mutation of the prothrombin gene and oral contraceptive use in deep vein thrombosis. Arterioscler Thromb Vasc Biol 1999;19:700–703.
  • 6. Simioni P, Prandoni P, Lensing AW, Manfrin D, Tormene D, Gavasso S, et al. Risk for subsequent venous thromboembolic complications in carriers of the prothrombin or the factor V gene mutation with a first episode of deep-vein thrombosis. Blood 2000;96:3329-33.
  • 7. Miles JS, Miletich JP, Goldhaber SZ, Hennekens CH, Ridker PM. G20210A mutation in the prothrombin gene and the risk of recurrent venous thromboembolism. J Am Coll Cardiol 2001;37:215-8.
  • 8. De Stefano V, Chiusolo P, Paciaroni K, Casorelli I, Rossi E, Molinari M, et al.Prothrombin G20210A mutant genotype is a risk factor for cerebrovascular ischemic disease in young patients. Blood 1998;91:3562-5.
Toplam 8 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Case Report
Yazarlar

Dilcan Kotan

Lütfi Özel

Hızır Ulvi

Recep Aygül

Yayımlanma Tarihi 1 Mart 2015
Yayımlandığı Sayı Yıl 2015Sayı: 1

Kaynak Göster

EndNote Kotan D, Özel L, Ulvi H, Aygül R (01 Mart 2015) Prothrombin Gene Mutation As a Risk Factor In Young Ischemic Stroke: a Case Report. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 1 52–54.