Çocukluk çağı iskemik inmeli hastalarda protrombin g20210a mutasyonu, metilentetrahidrofolat redüktaz c677t mutasyonu ve hiperhomosisteineminin değerlendirilmesi
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Tarih
2007
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info:eu-repo/semantics/openAccess
Özet
Çocuklarda tromboza erişkinlere göre daha az oranda rastlanmakla birlikte, iskemik inme çocuklarda kronik morbidite ve mortaliteye yol açması nedeniyle önemli bir sağlık sorunudur. Çalışmamızın amacı, iskemik inmeli çocuklarda protrombin G20210A mutasyonu, metilentetrahidrofolat redüktaz C677T mutasyonu ve hiperhomosisteinemiyi değerlendirip, bunların iskemik inmedeki rollerini saptamaktır. Bu çalışma doğumdan sonra normal gelişim gösterirken 1 ay-18 yaş arasında aniden spontan iskemik inme gelişen, kranial görüntülemesinde infarkt bulgusu olan 19 çocuk ve yaş-cins uyumlu 19 sağlıklı çocukta protrombin G20210A mutasyonu, metilentetrahidrofolat redüktaz C677T mutasyonu çalışılarak ve serum homosistein düzeyleri saptanarak gerçekleştirildi. İskemik inmeli çocuklarda inme yaşı 2.6 ± 3.3 yıl olarak bulundu. Gruplar arasında cins ve tetkik yaşı yönünden anlamlı bir farklılık saptanmadı. Gruplar arasında etnik köken bakımından farklılık saptandı. İskemik inmeli çocuklarda kontrol grubuna göre ailede tromboz öyküsü olması ve hiperhomosisteinemi saptanması ihtimalinin daha yüksek olduğu ve protrombin G20210A mutasyonu, metilentetrahidrofolat redüktaz C677T mutasyonu açısından ise istatistiksel olarak önemli bir fark olmadığı tespit edildi. Sonuç olarak, çalışmamızda araştırdığımız trombofili risk faktörleri kısıtlı sayıda idi ve kontrol grubuna kıyasla anlamlı fark bulunmadı. Çocukluk çağı iskemik inmelerinde trombotik risk faktörlerinin birkaçının birarada bulunmasının iskemik inme riskini katlayarak artırdığı bilindiğinden, çocukluk çağı iskemik inme vakalarında bilinen herediter risk faktörlerinin bir bütün olarak değerlendirilmesi gerekir. Anahtar kelimeler: metilentetrahidrofolat redüktaz C677T mutasyonu, protrombin G20210A mutasyonu, hiperhomosisteinemi, iskemik inme, kalıtsal trombofili.
Although thrombosis is less frequent in children than adults, ischemic stroke is an important health issue causing mortality and chronic morbidity in children. The aim of this study was to find the frequency of protrombin G20210A mutation, methylenetetrahydrofolate reductase C677T mutation and hyperhomocysteinemia in children with ischemic stroke. This study was performed on 19 normally developed children with acute stroke aged between 1 months and 18 years. Nineteen healthy age-gender matched children were used as a control group. Protrombin G20210A mutation, methylenetetrahydrofolate reductase C677T mutation and homocysteine levels were studied. Mean age of stroke cases were 2.6 ± 3.3 years. There was no difference in terms of gender and age between the groups, whereas ethnicity differed between the two groups. Children in the stroke group had a positive family history of thrombosis and their homocysteine levels were found to be elevated in comparison to the control group. However, the frequency of protrombin G20210A mutation and methylenetetrahydrofolate reductase C677T mutation were similar between the groups. In conclusion, the number of evaluated hereditary thrombophilia risk factors were few in our study and the results were found to be similar compared to the control group. It is wellknown that combinations of multipl hereditary thrombophilia risk factors trigger ischemic stroke in children several folds. Therefore all known hereditary risk factors have to be determined in cases with ischemic stroke. Key words: methylenetetrahydrofolate reductase C677T mutation, prothrombin G20210A mutation, hyperhomocysteinemia, ischemic stroke, hereditary thrombophilia
Although thrombosis is less frequent in children than adults, ischemic stroke is an important health issue causing mortality and chronic morbidity in children. The aim of this study was to find the frequency of protrombin G20210A mutation, methylenetetrahydrofolate reductase C677T mutation and hyperhomocysteinemia in children with ischemic stroke. This study was performed on 19 normally developed children with acute stroke aged between 1 months and 18 years. Nineteen healthy age-gender matched children were used as a control group. Protrombin G20210A mutation, methylenetetrahydrofolate reductase C677T mutation and homocysteine levels were studied. Mean age of stroke cases were 2.6 ± 3.3 years. There was no difference in terms of gender and age between the groups, whereas ethnicity differed between the two groups. Children in the stroke group had a positive family history of thrombosis and their homocysteine levels were found to be elevated in comparison to the control group. However, the frequency of protrombin G20210A mutation and methylenetetrahydrofolate reductase C677T mutation were similar between the groups. In conclusion, the number of evaluated hereditary thrombophilia risk factors were few in our study and the results were found to be similar compared to the control group. It is wellknown that combinations of multipl hereditary thrombophilia risk factors trigger ischemic stroke in children several folds. Therefore all known hereditary risk factors have to be determined in cases with ischemic stroke. Key words: methylenetetrahydrofolate reductase C677T mutation, prothrombin G20210A mutation, hyperhomocysteinemia, ischemic stroke, hereditary thrombophilia
Açıklama
Anahtar Kelimeler
Çocuk Sağlığı ve Hastalıkları, Child Health and Diseases
