Clarification of the pathophysiology of hereditary and non-hereditary angioedema by using patient registry
Project/Area Number |
16K09246
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
General internal medicine(including psychosomatic medicine)
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Research Institution | Kyushu University |
Principal Investigator |
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Co-Investigator(Kenkyū-buntansha) |
木本 泰孝 九州大学, 大学病院, 助教 (40735487)
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Project Period (FY) |
2016-04-01 – 2019-03-31
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Project Status |
Completed (Fiscal Year 2018)
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Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2017: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2016: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
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Keywords | 血管性浮腫 / プラスミノーゲン / 遺伝性血管性浮腫 / C1インヒビター / 患者レジストリー / 遺伝子解析 |
Outline of Final Research Achievements |
By using our patient registry, we clarified the clinical and genetic features of HAE-Unknown for the first time in Asia. Clinical characteristics of our Japanese patients with HAE-Unknown manifested significantly more frequent facial, pharyngeal and laryngeal edema, compared with HAE-C1-INH (HAE with abnormal C1-INH). In addition, we clarified a missense mutation in the plasminogen gene (K330E) in 4 patients in 2 families of HAE-Unknown.
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Academic Significance and Societal Importance of the Research Achievements |
欧米からはHAE-C1-INHとHAE-Unknownを比較した研究は散見されるが、今回の報告はアジアからは初の研究となった。また遺伝子解析を行うことによってHAE-Unknownの原因となる遺伝子異常を同定することができた。従来HAE-Unknownの遺伝子異常は欧米から最近複数報告されてきているがアジアからの報告は皆無であった。こうした点を考えると、我々の研究は臨床的にもまた基礎的にもHAE-C1-INHならびにHAE-Unknownの研究に寄与したと考えられる。日本補体学会、厚労省研究班と密に連携しており、遺伝性血管性浮腫ガイドライン作成に寄与した。
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Report
(4 results)
Research Products
(16 results)
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[Journal Article] A novel scoring system based on common laboratory tests predicts the efficacy of TNF-inhibitor and IL-6 targeted therapy in patients with rheumatoid arthritis: a retrospective, multicenter observational study2017
Author(s)
Nakagawa J, Koyama Y, Kawakami A, Ueki Y, Tsukamoto H, Horiuchi T, Nagano S, Uchino A, Ota T, Akahoshi M, Akashi K
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Journal Title
Arthritis Res. Ther
Volume: 19
Pages: 185-185
Related Report
Peer Reviewed
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[Journal Article] Clinical and genetic features of patients with TNFRSF1A variants in Japan: Findings of a nationwide survey.2016
Author(s)
Ueda N, Ida H, Washio M, Miyahara H, Tokunaga S, Tanaka F, Takahashi H, Kusuhara K, Ohmura K, Nakayama M, Ohara O, Nishikomori R, Minota S, Takei S, Fujii T, Ishigatsubo Y, Tsukamoto H, Tahira T, Horiuchi T
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Journal Title
Arthritis Rheumatol.
Volume: 68
Pages: 2760-2771
Related Report
Peer Reviewed / Open Access
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