アブストラクト
Japanese
| Title | 高ホモシステイン血症とメチレンテトラヒドロ葉酸還元酵素 (MTHFR) 遺伝子多型を認めた脳静脈洞血栓症の1例 |
|---|---|
| Subtitle | 短報 |
| Authors | 松本明香1, 上田健博1, 米田行宏1, 影山恭史1 |
| Authors (kana) | |
| Organization | 1兵庫県立尼崎総合医療センター脳神経内科 |
| Journal | 脳卒中 |
| Volume | 47 |
| Number | 1 |
| Page | 58-61 |
| Year/Month | 2025 / 1 |
| Article | 報告 |
| Publisher | 日本脳卒中学会 |
| Abstract | 要旨:高ホモシステイン血症は動脈硬化性の血管障害のリスク因子とされており, 脳静脈血栓症にも関連する. 症例は下肢静脈血栓症と肺塞栓症による心停止発作の既往のある64歳男性. 広範な脳静脈洞血栓症に伴う皮質下出血を来した. 血清ホモシステインが軽度高値で, 葉酸, ビタミンB6, B12も低値だった. ホモシステイン代謝経路のメチレンテトラヒドロ葉酸還元酵素(MTHFR)の遺伝子多型(C677T)をホモ接合体で保有していた. 抗凝固療法, ビタミンの補充療法を施行した. MTHFR遺伝子多型では代謝酵素活性が低下し, 軽度の高ホモシステイン血症であっても反復性の重度の血栓症を生じる可能性があり注意を要する. |
| Practice | 臨床医学：内科系 |
| Keywords | homocysteine, methylene tetrahydrofolate reductase, cerebral venous thrombosis |
English
| Title | A case of hyper-homocysteinemia carrying MTHFR gene polymorphism in cerebral sinus thrombosis and pulmonary embolism |
|---|---|
| Subtitle | Short Reports |
| Authors | Sayaka Matsumoto1, Takehiro Ueda1, Yukihiro Yoneda1, Yasufumi Kageyama1 |
| Authors (kana) | |
| Organization | 1Division of Neurology, Hyogo Prefectural Amagasaki General Medical Center |
| Journal | Japanese Journal of Stroke |
| Volume | 47 |
| Number | 1 |
| Page | 58-61 |
| Year/Month | 2025 / 1 |
| Article | Report |
| Publisher | The Japan Stroke Society |
| Abstract | A 64-year-old man with a history of critical pulmonary embolism and leg venous thrombosis developed a large cerebral sinus thrombosis in the right hemisphere. The laboratory tests showed mild hyper-homocysteinemia associated with a low concentration of folic acid and vitamins B6 and B12. The genetic examination documented methylene tetrahydrofolate reductase (MTHFR) gene variant C677T, known as polymorphism associated with hyperhomocysteinemia. Treatments were anticoagulant medication and supplementation of folic acid and vitamins B6 and B12. Because the MTHFR gene polymorphism leads to a low enzyme activity, this genetic factor is important in the management of thrombosis. |
| Practice | Clinical internal medicine |
| Keywords | homocysteine, methylene tetrahydrofolate reductase, cerebral venous thrombosis |
- 全文ダウンロード： 従量制、基本料金制の方共に770円(税込) です。
