Clarification of the pathogenesis of angioedema
Project/Area Number |
19H03564
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Single-year Grants |
Section | 一般 |
Review Section |
Basic Section 52010:General internal medicine-related
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Research Institution | Kyushu University |
Principal Investigator |
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Co-Investigator(Kenkyū-buntansha) |
宮原 寿明 独立行政法人国立病院機構九州医療センター(臨床研究センター), その他部局等, 整形外科統括部長 (10209934)
木本 泰孝 九州大学, 大学病院, 助教 (40735487)
田平 知子 金城学院大学, 薬学部, 准教授 (50155230)
宮田 敏行 国立研究開発法人国立循環器病研究センター, 病院, 客員研究員 (90183970)
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Project Period (FY) |
2019-04-01 – 2022-03-31
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Project Status |
Completed (Fiscal Year 2022)
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Budget Amount *help |
¥17,160,000 (Direct Cost: ¥13,200,000、Indirect Cost: ¥3,960,000)
Fiscal Year 2021: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2020: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2019: ¥8,320,000 (Direct Cost: ¥6,400,000、Indirect Cost: ¥1,920,000)
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Keywords | 浮腫 / 窒息 / 遺伝子解析 / C1インヒビター / プラスミノーゲン / 遺伝性血管性浮腫 / ブラジキニン / 血管性浮腫 / 全国調査 / 接触系 / 凝固線溶系 |
Outline of Research at the Start |
血管性浮腫は全身のさまざまな部位に突然の浮腫をきたす疾患である。顔面や四肢の腫れはもちろんのこと、激烈な腹痛、呼吸困難や窒息などをきたす場合があるため、プライマリーケアの領域では見逃してはならない疾患である。血管性浮腫は遺伝性、非遺伝性の大きく二つに分類されるが、それぞれの原因や病態はヘテロでありいまだ不明な点が多い。 本研究では、複数の学会や厚労省研究班と連携して患者レジストリを進め、原因や重症度に関与する遺伝子の同定をおこない、個々の病態にもとづいた治療法の展開を目的とする。
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Outline of Final Research Achievements |
Angioedema is a disease that causes sudden edema throughout the body. It is broadly classified into hereditary and non-hereditary according to its cause. In this study, a national survey of hereditary angioedema (HAE) was conducted, and genetic analysis was performed on consented cases. 158 HAE patients with abnormalities in the C1 inhibitor (C1-INH) gene (HAE-C1-INH), 122 families, and 21 HAE patients without C1-INH gene abnormalities (HAEnCI), 21 families. There were many We identified 112 HAE-C1-INH families with C1-INH mutations, and 2 HAEnCI families with plasminogen gene mutations.
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Academic Significance and Societal Importance of the Research Achievements |
HAEの研究は欧米に比べてアジアでは遅れている。今回、我々は初めてHAE-C1-INHとHAEnCIの臨床症状の特徴、お互いの違い、遺伝子異常の詳細を明らかにした。この結果は、特定難病でありながら見逃されやすい疾患であるHAEの早期診断、早期治療、疾患の適切なコントロールに役立つことが考えられる。喉頭浮腫で窒息死をきたしうる疾患であることを考えると社会的な意義は大きい。またHAEnCIに関してはアジアで初めてその原因となる遺伝子異常を明らかにした。アジアにも遺伝子異常が確定したHAEnCIが欧米と同様に存在することが明らかになり、学術的意義は高いと考えられる。
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Report
(4 results)
Research Products
(22 results)
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[Journal Article] Clinical course of patients with rheumatoid arthritis who continue or discontinue biologic therapy after hospitalization for infection: a retrospective observational study2022
Author(s)
Kashiwado Y, Kiyohara C, Kimoto Y, Nagano S, Sawabe T, Oryoji K, Mizuki S, Nishizaka H, Yoshizawa S, Yoshizawa S, Tsuru T, Inoue Y, Ueda N, Ota SI, Suenaga Y, Miyamura T, Tada Y, Niiro H, Akashi K, Horiuchi T
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Journal Title
Arthritis Res. Ther.
Volume: 24
Issue: 1
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Shoulder ultrasound and serum lactate dehydrogenase predict inadequate response to glucocorticoid treatment in patients with polymyalgia rheumatica.2020
Author(s)
Ayano M, Arinobu Y, Tsukamoto H, Ota SI, Misaki K, Nishimura K, Kimoto Y, Mitoma H, Akahoshi M, Akashi K, Horiuchi T, Niiro H.
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Journal Title
Rheumatology International
Volume: -
Issue: 7
Pages: 1101-1109
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Methotrexate Enhances Apoptosis of Transmembrane TNF-Expressing Cells Treated With Anti-TNF Agents2020
Author(s)
Wang Q, Oryoji D, Mitoma H, Kimoto Y, Koyanagi M, Yokoyama K, Ayano M, Akahoshi M, Arinobu Y, Niiro H, Akashi K, Horiuchi T.
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Journal Title
Front Immunol.
Volume: 14
Pages: 2042-2042
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Generation of a novel CD30 + B cell subset producing GM-CSF and its possible link to the pathogenesis of systemic sclerosis2020
Author(s)
Higashioka K, Kikushige Y, Ayano M, Kimoto Y, Mitoma H, Kikukawa M, Akahoshi M, Arinobu Y, Horiuchi T, Akashi K, Niiro H.
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Journal Title
Clin Exp Immunol.
Volume: 201
Issue: 3
Pages: 233-243
DOI
Related Report
Peer Reviewed
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[Journal Article] CD34-selected versus unmanipulated autologous hematopoietic stem cell transplantation in the treatment of severe systemic sclerosis: a post hoc analysis of a phase I/II clinical trial conducted in Japan.2019
Author(s)
Ayano M, Tsukamoto H, Mitoma H, Kimoto Y, Akahoshi M, Arinobu Y, Miyamoto T, Horiuchi T, Niiro H, Nagafuji K, Harada M, Akashi K
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Journal Title
Arthritis Res Ther.
Volume: 21
Issue: 1
Pages: 30-30
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome2019
Author(s)
Tsuji, S. Matsuzaki, H. Iseki, M. Nagasu, A. Hirano, H. Ishihara, K. Ueda, N. Honda, Y. Horiuchi, T. Nishikomori, R. Morita, Y. Mukai, T.
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Journal Title
Clin Exp Immunol
Volume: 198
Issue: 3
Pages: 416-429
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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