Development of screening method for neonatal hereditary protein C deficiency and application to thrombotic disease

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
  • Multi-year Fund
Review Section / Research Field
  • Basic Section 52050:Embryonic medicine and pediatrics-related
Research Institution
  • 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.

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