hrvatski

Učestalost genotipova ljudskih trombocitnih antigena u djece s arterijskim ishemijskim moždanim udarom

Perinatal arterial stroke (PAS), defined as a cerebrovascular event which occurs between 28 weeks of gestation and 28 days of postnatal age with either pathological or radiological evidence of focal arterial infarction, has received increased attention as an important cause of cerebral palsy and other neurologic disabilities, including epilepsy and cognitive impairment. Although sensitive neuroimaging techniques have dramatically improved the detection of PAS in recent years, the cause of PAS is still poorly understood. The increasing evidence that inherited or acquired prothrombotic disorders may be implicated in the pathogenesis of PAS prompted us to investigate the prevalence of genetic polymorphisms that encode proteins associated with thrombosis (factor V G1619A [FVL], factor II G20210A [PT], homocysteine metabolism (methylenetetrahydrofolate reductase C677T [MTHFR]), and human platelet antigens (HPA) in children with PAS. Polymorphisms were investigated in 24 children (11 boys, 13 girls) with PAS confirmed by brain imaging and in 103 children (72 boys, 31 girls) from the same geographical region that represented the control group, with standard laboratory techniques. At least 1 prothrombotic abnormality was identified in 18/24 (75 %) children with PAS: 3 were heterozygous for FVL, 16 were carriers of the MTHFR mutation (13 heterozygotes, 3 homozygotes) and 1 was double heterozygous for FVL and MTHFR ; the presence of PT 20210A was not detected. Similar genotype and allele frequencies of HPA-1, HPA-2 and HPA-5 were observed in both study groups. Although higher frequencies of HPA-3a/a (50%), HPA-3a allele (68.7%) and FVL (12.5%) were observed in children with PAS compared to the control group (28.2%, 53.4% and 1.9% respectively), these differences failed to reach statistical significance. On the contrary, homozygosity for MTHFR (12.5% in patients and 1.9% in controls) was found to be the only statistically significant difference between the studied groups.

trombocitni antigeni; moždani udar; djeca

nije evidentirano

engleski

Inherited Prothrombotic Risk Factors In Children With Perinatal Arterial Stroke

Perinatal arterial stroke (PAS), defined as a cerebrovascular event which occurs between 28 weeks of gestation and 28 days of postnatal age with either pathological or radiological evidence of focal arterial infarction, has received increased attention as an important cause of cerebral palsy and other neurologic disabilities, including epilepsy and cognitive impairment. Although sensitive neuroimaging techniques have dramatically improved the detection of PAS in recent years, the cause of PAS is still poorly understood. The increasing evidence that inherited or acquired prothrombotic disorders may be implicated in the pathogenesis of PAS prompted us to investigate the prevalence of genetic polymorphisms that encode proteins associated with thrombosis (factor V G1619A [FVL], factor II G20210A [PT], homocysteine metabolism (methylenetetrahydrofolate reductase C677T [MTHFR]), and human platelet antigens (HPA) in children with PAS. Polymorphisms were investigated in 24 children (11 boys, 13 girls) with PAS confirmed by brain imaging and in 103 children (72 boys, 31 girls) from the same geographical region that represented the control group, with standard laboratory techniques. At least 1 prothrombotic abnormality was identified in 18/24 (75 %) children with PAS: 3 were heterozygous for FVL, 16 were carriers of the MTHFR mutation (13 heterozygotes, 3 homozygotes) and 1 was double heterozygous for FVL and MTHFR ; the presence of PT 20210A was not detected. Similar genotype and allele frequencies of HPA-1, HPA-2 and HPA-5 were observed in both study groups. Although higher frequencies of HPA-3a/a (50%), HPA-3a allele (68.7%) and FVL (12.5%) were observed in children with PAS compared to the control group (28.2%, 53.4% and 1.9% respectively), these differences failed to reach statistical significance. On the contrary, homozygosity for MTHFR (12.5% in patients and 1.9% in controls) was found to be the only statistically significant difference between the studied groups.

human platelet antigens (HPA); stroke; children

nije evidentirano