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Inherited and acquired risk factors and their combined effects in pediatric stroke
Sameiro Barreirinho1, Anabela Ferro, Manuela Santos
1Serviço de Neuropediatria, Hospital de Crianças Maria Pia, Porto, Portugal.
Insights
Childhood stroke is often linked to multiple genetic and acquired risk factors. The Factor V Leiden mutation and Factor II G20210A variant appear to increase the risk of stroke in children.
Area of Science:
- Pediatric Neurology
- Genetics
- Thrombophilia
Background:
- Stroke in children is a significant concern with multifactorial causes.
- Identifying specific hereditary and acquired risk factors is crucial for understanding pediatric stroke.
- Previous research suggests a potential link between thrombophilia and childhood stroke.
Purpose of the Study:
- To identify hereditary and acquired risk factors associated with stroke occurrence in children.
- To investigate the prevalence of specific genetic mutations (Factor V Leiden, Factor II G20210A, MTHFR) in pediatric stroke patients.
- To determine the association between these genetic variants and the risk of childhood stroke.
Main Methods:
- Case-control study involving 21 children diagnosed with stroke and 115 healthy controls.
- Genetic analysis for Factor V Leiden mutation, Factor II G20210A variant, and thermolabile methylenetetrahydrofolate reductase (MTHFR) variant.
- Assessment of acquired risk factors in conjunction with hereditary predispositions.
Main Results:
- 19 out of 21 children with stroke had identifiable acquired and/or hereditary risk factors.
- Multiple risk factors were common: 11 children had three or more, 7 had two.
- Higher frequencies of Factor V Leiden mutation and Factor II G20210A variant were observed in patients compared to controls.
Conclusions:
- Childhood stroke is frequently associated with a combination of multiple genetic and acquired risk factors.
- Factor V Leiden mutation and Factor II G20210A variant are identified as predisposing factors for childhood stroke.
- The study highlights the importance of comprehensive risk factor assessment in pediatric stroke cases.
Abstract:
The aim of this study was to identify hereditary and acquired risk-factors as they are related to the occurrence of stroke in children. We identified 21 children with stroke. A search of the Factor V Leiden mutation, the Factor II G20210A variant, and the thermolabile variant of methylenetetrahydrofolate reductase was performed in patients and in a control group (n = 115). We identified risk factors of acquired and/or hereditary nature for stroke in 19 of 21 children. Eleven children had three or more risk factors, seven had two risk factors, and one child had only one risk factor. We found three carriers (14.3%) of the Factor V Leiden mutation, two carriers (9.5%) of the Factor II G20210A variant, eleven (52.4%) thermolabile variant of methylenetetrahydrofolate reductase heterozygote carriers, and one (4.8%) homozygotes for this variant. Frequencies of the Factor V Leiden mutation and the Factor II variant were higher in patients than in controls, suggesting that these variants are associated with an increased risk of stroke in childhood. Homozygosity for the thermolabile variant of methylenetetrahydrofolate reductase was equally frequent amongst patients and controls. Our study confirms that stroke in children is commonly associated with a combination of multiple risk factors, both genetic and acquired, and that the Factor V Leiden mutation and the Factor II G20210A variant are predisposing factors for this situation.