Development of screening method for neonatal hereditary protein C deficiency and application to thrombotic disease
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- Ichiyama Masako
- Principal Investigator
- 九州大学
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- 藤吉 順子
- Co-Investigator
- 九州大学
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- 井上 普介
- Co-Investigator
- 九州大学
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- 落合 正行
- Co-Investigator
- 九州大学
About this project
- Japan Grant Number
- JP18K07849
- Funding Program
- Grants-in-Aid for Scientific Research
- Funding organization
- Japan Society for the Promotion of Science
- Project/Area Number
- 18K07849
- Research Category
- Grant-in-Aid for Scientific Research (C)
- Allocation Type
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- Multi-year Fund
- Review Section / Research Field
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- Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
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- Kyushu University
- Project Period (FY)
- 2018-04-01 〜 2023-03-31
- Project Status
- Completed
- Budget Amount*help
- 4,550,000 Yen (Direct Cost: 3,500,000 Yen Indirect Cost: 1,050,000 Yen)
Research Abstract
Most neonatal hereditary thrombosis is protein C deficiency. However, it is difficult to diagnose from the activity value in the neonatal period. In this study, we accumulated the clinical features and activity levels of 41 neonatal-onset protein C deficiencies with genetic testing (19 biallelic mutations, 9 monoallelic mutations, and 13 no mutations) . Moreover, a prediction formula for gene mutation detection was developed using the protein C activity value and the protein C/protein S activity ratio. In addition, a nationwide survey of neonatal thrombosis was conducted. Five of 9 patients with protein C gene mutations had monoallelic mutations, and the genetic effects of monoallelic mutations were recognized. Seventy-five percent of the patients developed within 3 days of age (including the fetal period) regardless of the presence or absence of the mutation, suggesting the importance of early diagnosis and early treatment.
Details 詳細情報について
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- CRID
- 1040000782000380416
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- Text Lang
- ja
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- Data Source
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- KAKEN