engleski

Inherited thrombophilia associated with ischemic paediatric stroke in parents-child pairs

Background: Inherited thrombophilia in parents-child pairs with ischemic pediatric stroke (IPS) has been investigated in few studies and included the most common polymorphisms (FV Leiden, FII G20210A, MTHFR C677T, MTHFR A1298C) only. Aims: We aimed to examine inherited thrombophilia frequencies, focusing on previously not investigated polymorphisms, in children with IPS and their parents. Methods: The study included 32 pairs of children with IPS (22 with perinatal, 8 with childhood arterial ischemic stroke and 2 with cerebral sinovenous thrombosis) and their parents (26 mother- child, 1 father-child and 5 both parents-child pairs). Genotyping of FV Leiden, FV HR2, FII G20210A, β-fibrinogen-455G>A, FXIII-A Val34Leu, PAI-1 4G/5G, HPA-1, MTHFR C677T, MTHFR A1298C, ACE I/D and apo E ε2-4 was performed using CVD Strip assay (ViennaLab, Austria). Results: Most frequently identified thrombophilia’s were PAI- 1 4G/5G and ACE I/D both in children and their parents. Similarly, in about half of cases, MTHFR C677T, MTHFR A1298C and FXIII-A Val34Leu frequencies were also found both in children and their parents. β-fibrinogen -455A allele was found in all fathers, half of children and a third of mothers. All frequencies are presented in Figure 1. Conclusions: The high rate of PAI-1 4G/5G and ACE I/D found both in children and their parents suggests that these polymorphisms could play a role in IPS. For FXIII-A Val34Leu and β- fibrinogen-455G>A, further investigation are needed.

inherited thrombophilia ; ischemic pediatric stroke ; cerebral sinovenous thrombosis

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