Coexistence of two prothrombotic mutations, factor V 1691 G-A and prothrombin gene 20210 G-A, and the risk of cerebral infarct in pediatric patients.

Several studies have evaluated the effect of the factor V (FV) 1691 G-A mutation and prothrombin (PT) 20210 G-A in patients with cerebrovascu- lar disease, particularly in patients over the age of 18, but the results are controversial (1± 3). To date, no study has evaluated the effect of these two prothrombotic mutations in pediatric patients with cerebral infarct. Thirty-twopediatriccerebralinfarctpatientsdiagnosedanddocumented with neurologic examination, laboratory examinations for the etiology of in- farct, and MRI (14 males and 18 females, ages 2 months± 13 years) were included in the study. None of the patients had any etiologic factor for cere- bral infarct, such as collagen tissue disorder, isolated angiitis, possible in- fection, congenital heart disease, sickle cell syndrome, or other inherited coagulation disorders and mitochondrial diseases. DNA was extracted by conventional methods and the mutation analysis was performed according to previously reported techniques (4± 7). Our study revealed that 9 (28.1%) ofthe patients carriedFV1691 A and7 (21.8%) of thepatientscarriedthe PT 20210 A mutation in the heterozygous state. When compared to the normal healthy population the difference was statistically important for both muta- tions respectively (p < .04; p < .0007) ((FV 1691A OR: 2.6 CI 95% 0.9± 6.3); PT 20210A OR:8.2 (CI 95% 2.5± 27.6)). Further, 2 of these patients carried both mutations (6.2%) (OR: 11.8 (CI 95% 1.0± 134.0)) (Table 1). The frequency of FV (1691 G-A) and PT (20210 G-A) mutations is 10.4 and 2.7%, respectively, in the Turkish population (6± 8). Approximately one inevery400healthyindividualsmaycarrybothmutations.Ourdataindicated that FV 1691 A and PT20210 A mutations are important risk factors for the