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

Yıl 2020, Cilt: 51 Sayı: 2, 101 - 105, 15.06.2020

Aslı Kıbrıs , Eda Sünnetçi Silistre , Betül Biner Orhaner

https://doi.org/10.16948/zktipb.553407

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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