Idiopathic thrombosis developing in childhood has increased in incidence because of advances in medical technology and improved disease recognition. The genetic predisposition of pediatric thrombosis (thrombophilia) primarily consists of protein C, protein S, and antithrombin deficiencies. Evidence of thrombolysis, specific replacement, or anticoagulant therapy for these disorders does not exist. Moreover, trials for direct oral anticoagulants and specific replacement therapy for non-hereditary idiopathic thrombosis have also not proceeded. Hereditary thrombosis occurring in childhood leads to poor outcomes. Repetitive purpura fulminans require life-long anticoagulant therapy; however, a specific treatment strategy does not exist. Pregnancy and delivery of unaffected carriers could trigger maternal and infant thrombosis. Herein, we established a research project, “Establishment of a clinical algorithm for idiopathic thrombosis that develops from neonates to adults,” supported by the Japan Agency for Medical Research and Development in 2020–2022. This study proposed thrombosis underlying genetic predispositions as early-onset thrombosis/thrombophilia (EOT) and aimed to present a clinical guideline for EOT. In this symposium, we showed the progress of the EOT registry and the guideline.
"},{"@language":"ja","@value":"小児期に発症する特発性血栓症は医療技術の進歩と疾患認識の拡がりから増加傾向にある．遺伝性血栓症は新生児期に発症するprotein C（PC）欠乏症と思春期に発症するPC，protein Sおよびantithrombin欠乏症が占める．一方で，これら異常症に対する血栓溶解，特異的補充や抗凝固療法のエビデンスは存在しない．また遺伝性以外の特発性血栓症においても直接経口抗凝固剤や特異的補充療法などのエビデンス集積が進んでいない．小児期発症の遺伝性性血栓症は予後不良である．電撃性紫斑に対して抗凝固療法が生涯必要となるがその具体的方法は確立していない．未発症保因者の妊娠出産は母子の血栓発症の誘因となる．日本医療研究開発機構（AMED）難治性疾患等政策研究事業「新生児から成人までに発症する特発性血栓症の診療アルゴリズムの確立」研究班（2020–22年度）では，新生児から成人までに発症する血栓症のうち遺伝性素因の関与が強いものを早発型遺伝性血栓症（early-onset thrombosis/thrombophilia, EOT）ととらえ診療指針を発信する．国内外の文献や診療ガイドラインなどを参考にし，患児とその家族を血栓症から守る治療管理に必要な情報を医療従事者に提供するための質問項目を設定し，各項目に回答する形式で「新生児から成人までに発症する特発性血栓症の診療ガイド（仮）」を作成中である．今回EOTレジストリならびに診療ガイドの進捗を報告する．
"}],"abstractLicenseFlag":"disallow"}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1410298001831367296","@type":"Researcher","foaf:name":[{"@language":"en","@value":"Ochiai Masayuki"},{"@language":"ja","@value":"落合 正行"}],"jpcoar:affiliationName":[{"@language":"ja","@value":"九州大学環境発達医学研究センター"},{"@language":"en","@value":"Research Center for Environment and Developmental Medical Sciences, Kyushu University"},{"@language":"en","@value":"The Study group for Establishment of the Medical Algorithms for Management of Neonatal and Pediatric Onset Idiopathic Thromboembolism, Japan Agency for Medical Research and Development"},{"@language":"ja","@value":"日本医療研究開発機構難治性疾患等政策研究事業「新生児から成人までに発症する特発性血栓症の診療アルゴリズムの確立」研究班"},{"@language":"en","@value":"The Study Group for Hereditary Thrombophilia, Research on Blood Coagulation Abnormalities, Research Program on Rare and Intractable Diseases, The Ministry of Health, Labour and Welfare Science Research Grants"},{"@language":"ja","@value":"厚生労働科学研究費補助金 難治性疾患政策研究事業・血液凝固異常症に関する研究班・特発性血栓症グループ"}]}],"publication":{"publicationIdentifier":[{"@type":"PISSN","@value":"2187011X"},{"@type":"EISSN","@value":"21895384"}],"prism:publicationName":[{"@language":"ja","@value":"日本小児血液・がん学会雑誌"},{"@language":"en","@value":"The Japanese Journal of Pediatric Hematology / Oncology"},{"@language":"ja","@value":"日本小児血液・がん学会雑誌"},{"@language":"en","@value":"J Jpn Soc Pediatr Hematol Oncol"}],"dc:publisher":[{"@language":"en","@value":"The Japanese Society of Pediatric Hematology / Oncology"},{"@language":"ja","@value":"日本小児血液・がん学会"}],"prism:publicationDate":"2023","prism:volume":"60","prism:number":"3","prism:startingPage":"234","prism:endingPage":"236"},"availableAt":"2023","foaf:topic":[{"@id":"https://cir.nii.ac.jp/all?q=%E7%89%B9%E7%99%BA%E6%80%A7%E8%A1%80%E6%A0%93%E7%97%87","dc:title":"特発性血栓症"},{"@id":"https://cir.nii.ac.jp/all?q=%E3%83%97%E3%83%AD%E3%83%86%E3%82%A4%E3%83%B3C","dc:title":"プロテインC"},{"@id":"https://cir.nii.ac.jp/all?q=%E9%9B%BB%E6%92%83%E6%80%A7%E7%B4%AB%E6%96%91","dc:title":"電撃性紫斑"},{"@id":"https://cir.nii.ac.jp/all?q=%E6%97%A9%E7%99%BA%E5%9E%8B%E9%81%BA%E4%BC%9D%E6%80%A7%E8%A1%80%E6%A0%93%E7%97%87","dc:title":"早発型遺伝性血栓症"},{"@id":"https://cir.nii.ac.jp/all?q=idiopathic%20thrombosis","dc:title":"idiopathic thrombosis"},{"@id":"https://cir.nii.ac.jp/all?q=protein%20C","dc:title":"protein C"},{"@id":"https://cir.nii.ac.jp/all?q=purpura%20fulminans","dc:title":"purpura fulminans"},{"@id":"https://cir.nii.ac.jp/all?q=early-onset%20thrombosis/thrombophilia","dc:title":"early-onset thrombosis/thrombophilia"}],"dataSourceIdentifier":[{"@type":"JALC","@value":"oai:japanlinkcenter.org:2011994133"}]}