TY - JOUR T1 - Evaluation of thrombophilic gene mutation and hyperhomocysteinemia in children with ischemic stroke TT - İskemik inmeli çocuklarda trombofilik gen mutasyonu ve hiperhomosisteinemi’nin araştırılması AU - Kıbrıs, Aslı AU - Sünnetçi Silistre, Eda AU - Biner Orhaner, Betül PY - 2020 DA - June DO - 10.16948/zktipb.553407 JF - Zeynep Kamil Tıp Bülteni PB - Zeynep Kamil Kadın ve Çocuk Hastalıkları EAH WT - DergiPark SN - 1300-7971 SP - 101 EP - 105 VL - 51 IS - 2 LA - en AB - AbstractIntroduction: Although a variety ofpotential inherited and acquired aetiologies have been defined as a risk factorfor ischemic stroke (IS) in paediatric patients, we aimed to revisit theinfluence of prothrombin G20210A (PT), methylenetetrahydrofolate reductaseC677T (MTHFR-C677T) and hyperhomocysteinemia on the initial stroke episode. Materials and Methods: This retrospectivecross-sectional survey was conducted between 2003-2004. Paediatric patients whohad been admitted and/or followed up with the diagnosis of IS constituted thepatient group (Group I). Nineteen children who were followed up in the healthychildren policlinics were elected for control group (Group II). Thrombophilicgene mutation analysis was performed through enzymatic polymerase chainreaction. The homocysteine level was quantified through a chemical immunoassaymethod.Results: There was no significant difference between thegroups 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 wassignificantly higher in Group I (p<0.001). Additionally, it showed a 2,38 times greater risk ofischemic stroke. The rate of neither PT (p=1.0) nor MTHFR-C677T (p=0.19) wereconsiderably 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 significantimpact on the IS. Conclusions: Limited number of patient countwas the major limitation of the current study. The co-existence of clinical and genetic factors seemsto be more determinant than that of a genetic mutation per se.Keywords: Methylenetetrahydrofolate reductase, ProthrombinG20210A thrombophilia, Hyperhomocysteinemia, Cerebral stroke, Hereditarythrombophilia. KW - Methylenetetrahydrofolate reductase KW - Prothrombin G20210A thrombophilia KW - Hyperhomocysteinemia KW - Cerebral stroke N2 - ÖzetGiriş: Pediatrik hastalarda iskemik inme (İİ) için birçokkalıtımsal ve kazanılmış sebepler potansiyel risk faktörü olarak tanımlanmışolsa da biz, protrombin G20210A (PT) ve metilentetrahidrofolat redüktaz C677T(MTHFR-C677T) ve hiperhomosisteinemi’nin ilk İİ atağına etkisini tekrardeğerlendirmeyi amaçladık. Gereç ve Yöntem: Bu geriye-dönük kesitsel araştırma 2003-2004yılları arasında gerçekleştirildi. İİ tanısı ile başvuran veya takip altındaolan pediatrik hastalar çalışma topluluğunu (Grup I) oluşturmaktadır. SağlıklıÇocuk Polikliniği takibi altında olan 19 çocuk kontrol grubu (Grup II) içinseçildi. Trombofilik gen mutasyon analizi enzimatik polimeraz zincir reaksiyonuile gerçekleştirildi. Homosistein düzeyi kimyasal immünoesey metodu ileölçüldü. 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. Hereditertrombofili’yi işaret eden İİ için aile öyküsü grup I’de anlamlı olarak dahayüksek (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 7.5µmol/L, p=0.014), hiperhomosisteinemi oranı yakın-anlamlı (p=0.009) idi.Çok-değişkenli analizde hiçbir değişken İİ üzerine belirgin etki göstermedi. 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