Hafif Hiperhomosisteinemi ve Heterozigot Metilentetrahidrofolat Redüktaz Mutasyonu İle İlişkili Pulmoner Tromboemboli
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Date
2010
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info:eu-repo/semantics/openAccess
Abstract
Hiperhomosisteineminin arteryel tıkayıcı damar hastalıkları ve venöz tromboz için önemli bir risk faktörü olduğu bilinmektedir. Bu yazıda, metilentetrahidrofolat redüktaz (MTHFR) enziminde heterozigot 677C-T mutasyonu bulunan pulmoner tromboembolili iki hasta sunmaktayız. Hastalarda ayrıca hafif hiperhomosisteinemi de gözlendi ve serum B12, B6 ve folik asit düzeyleri normal bulundu. Hastalar sistemik antikoagülasyonla başarılı bir şekilde tedavi edildi. Tromboembolik hastalıklarda herhangi bir edinsel ve kalıtsal risk faktörünün saptanamadığı durumlarda MTHFR 677C-T mutasyonunun araştırılmasını önermekteyiz.
Hyperhomocysteinemia is known to be a significant risk factor for arterial occlusive vascular diseases and venous thrombosis. Here, we have reported two patients with pulmonary thromboembolism who had heterozygous 677C-T mutation in the methylenetetrahydrofolate reductase (MTHFR) enzyme. Mild hyperhomocysteinemia was also observed and serum B12, B6 and folate levels were normal. The patients were treated successfully with systemic anticoagulation. We suggest that MTHFR 677C-T mutation might be investigated in thromboembolic diseases when no other hereditary or acquired risk factors were found.
Hyperhomocysteinemia is known to be a significant risk factor for arterial occlusive vascular diseases and venous thrombosis. Here, we have reported two patients with pulmonary thromboembolism who had heterozygous 677C-T mutation in the methylenetetrahydrofolate reductase (MTHFR) enzyme. Mild hyperhomocysteinemia was also observed and serum B12, B6 and folate levels were normal. The patients were treated successfully with systemic anticoagulation. We suggest that MTHFR 677C-T mutation might be investigated in thromboembolic diseases when no other hereditary or acquired risk factors were found.
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hyperhomocysteinemia, pulmonary thromboembolism, pulmoner tromboemboli, hiperhomosisteinemi
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Solunum Dergisi
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12
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1
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Tülek, B., Süerdem, M., (2010). Hafif Hiperhomosisteinemi ve Heterozigot Metilentetrahidrofolat Redüktaz Mutasyonu İle İlişkili Pulmoner Tromboemboli. Solunum Dergisi, 12(1), 52-55.
