Evaluation of thrombophilic gene mutation and hyperhomocysteinemia in children with ischemic stroke

Öz

Abstract

Introduction: Although a variety of potential inherited and acquired aetiologies have been defined as a risk factor for ischemic stroke (IS) in paediatric patients, we aimed to revisit the influence of prothrombin G20210A (PT), methylenetetrahydrofolate reductase C677T (MTHFR-C677T) and hyperhomocysteinemia on the initial stroke episode.

Materials and Methods: This retrospective cross-sectional survey was conducted between 2003-2004. Paediatric patients who had been admitted and/or followed up with the diagnosis of IS constituted the patient group (Group I). Nineteen children who were followed up in the healthy children policlinics were elected for control group (Group II). Thrombophilic gene mutation analysis was performed through enzymatic polymerase chain reaction. The homocysteine level was quantified through a chemical immunoassay method.

Results: There was no significant difference between the groups in terms of age [10 (1-18), p=0.98], gender (p=1.0), and ethnicity (p=0.27). The family history of IS that suggested hereditary thrombophilia was significantly higher in Group I (p<0.001). Additionally, it showed a 2,38 times greater risk of ischemic stroke. The rate of neither PT (p=1.0) nor MTHFR-C677T (p=0.19) were considerably higher in group I. While homocysteine level was higher in group I (12,6 versus 7.5 µmol/L, p=0.014), the rate of hyperhomocysteinemia was near-significant (p=0.09). In multi-variate analysis, none of the variables revealed a significant impact on the IS.

Conclusions: Limited number of patient count was the major limitation of the current study. The co-existence of clinical and genetic factors seems to be more determinant than that of a genetic mutation per se.

Keywords: Methylenetetrahydrofolate reductase, Prothrombin G20210A thrombophilia, Hyperhomocysteinemia, Cerebral stroke, Hereditary thrombophilia. 

Anahtar Kelimeler

• Methylenetetrahydrofolate reductase,Prothrombin G20210A thrombophilia,Hyperhomocysteinemia,Cerebral stroke

İskemik inmeli çocuklarda trombofilik gen mutasyonu ve hiperhomosisteinemi’nin araştırılması

Öz

Özet

Giriş: Pediatrik hastalarda iskemik inme (İİ) için birçok kalıtımsal ve kazanılmış sebepler potansiyel risk faktörü olarak tanımlanmış olsa da biz, protrombin G20210A (PT) ve metilentetrahidrofolat redüktaz C677T (MTHFR-C677T) ve hiperhomosisteinemi’nin ilk İİ atağına etkisini tekrar değerlendirmeyi amaçladık.

Gereç ve Yöntem: Bu geriye-dönük kesitsel araştırma 2003-2004 yılları arasında gerçekleştirildi. İİ tanısı ile başvuran veya takip altında olan pediatrik hastalar çalışma topluluğunu (Grup I) oluşturmaktadır. Sağlıklı Çocuk Polikliniği takibi altında olan 19 çocuk kontrol grubu (Grup II) için seçildi. Trombofilik gen mutasyon analizi enzimatik polimeraz zincir reaksiyonu ile gerçekleştirildi. Homosistein düzeyi kimyasal immünoesey metodu ile ölçüldü.

Bulgular: Gruplar arasında yaş [10 (1-18), p= 0.98], cinsiyet (p=1.0) ve etnik köken (p=0.27) olarak anlamlı bir fark yoktu. Herediter trombofili’yi işaret eden İİ için aile öyküsü grup I’de anlamlı olarak daha yüksek (p<0.001) olmasına ek olarak İİ için 2,38 kat risk artışını göstermekteydi. Ne PT (p=1.0) ne de MTHFR-C677T oranı grup I’de anlamlı olarak daha yüksekti. Homosistein düzeyi grup I’de daha yüksek iken (12,6 ila 7.5 µmol/L, p=0.014), hiperhomosisteinemi oranı yakın-anlamlı (p=0.009) idi. Çok-değişkenli analizde hiçbir değişken İİ üzerine belirgin etki göstermedi.

Sonuç: Sınırlı hasta sayısı mevcut araştırmanın başlıca kısıtlılığıydı. Klinik ve genetik faktörlerin eş-zamanlı birlikte bulunmaları, tek başına genetik mutasyon varlığından daha belirleyici görünmektedir.

Anahtar Kelimeler

• Metilentetrahidrofolat redüktaz,Protrombin G20210A trombofili,Hiperhomosisteinemi,Serebral stroke

Kaynakça

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