Comprehensive risk assessment on thrombophilic onset in pediatric protein C defficiency patients

2021 Fiscal Year Final Research Report

• Project/Area Number: 18K15675
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: Yamaguchi University
• Principal Investigator: INOUE Hirofumi 山口大学, 医学部附属病院, 医師(時間給) (70650604)
• Project Period (FY): 2018-04-01 – 2022-03-31
• Keywords: プロテインC欠乏症 / 深部静脈血栓症 / 重症心身障碍児 / 抗てんかん薬

Outline of Final Research Achievements

We investigated to find undiagnosed severe protein C (PC) defficiency from 67 patients with severe motor and intellectual disabilities (SMID) and/or pediatric thromboembolic events by analyzing their clinical features and coagulation tests. Seven patients with thromboembolic events, family history, and/or reduction in PC activity had no mutation of the PC gene. We also analyzed 46 patients with SMID to clarify factors associated with PC activity and deep vein thrombosis (DVT). There was significant correlation between reduction in PC activity and using valproic acid in patients with SMID. The risk for DVT was significantly correlate with number of antiepileptic drugs.

Free Research Field

小児神経

Academic Significance and Societal Importance of the Research Achievements

栄養管理や人工呼吸管理などの継続的な医療を要する重症心身障碍児（者）が国内に約38,000人おり, 一般の疫学調査に比し高率に深部静脈血栓症を合併していることが報告されている。本研究で抗てんかん薬と深部静脈血栓症の関係が明らかとなり, これらの患者の深部静脈血栓症の発症予防につながる基礎データとなりうる。