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題 名 | 裘馨氏肌肉萎縮症藥物治療進展=The Treatment Nowadays in Duchenne Muscular Dystrophy |
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作 者 | 陳偉智; 廖培伶; 郭旆均; 謝永宏; 李妮鍾; 陳偉智; | 書刊名 | 藥學雜誌 |
卷 期 | 33:1=130 2017.03[民106.03] |
頁 次 | 頁109-113 |
分類號 | 418.93 |
關鍵詞 | 裘馨氏肌肉萎縮症; 肌肉失養蛋白; 基因治療; Duchenne muscular dystrophy; Dystrophin; Gene therapy; |
語 文 | 中文(Chinese) |
中文摘要 | 裘馨氏肌肉萎縮症 (Duchenne muscular dystrophy, DMD) 為我國罕見疾病之一,據 北部大型醫學新生兒篩檢中心統計,發生率約1/7000的活產男嬰,治療上以美國 FDA 提供的治療準則為主,利用類固醇控制肌肉萎縮情況。近年來有數種創新的研究與治 療方法,包含(1)通讀轉錄 (Read through) 治療移碼突變 (frameshift mutation),(2)反義 寡核甘酸 (antisense oligonucleotides, ASOs) 治療特定外顯子突變 (exon mutation),(3) adeno-associated virus, AAV 病毒載體基因治療。目前核准上市的藥物包含 Translarna (Ataluren) 與 Exondys 51 (Eteplirsen),對裘馨氏肌肉萎縮症患者的症狀改善有一大進 展。對於 DMD 的病理機轉仍有很多嶄新的治療方法值得研究探討,本文回顧近來研 究,提供對藥物治療方法與策略。 |
英文摘要 | Duchenne muscular dystrophy, DMD, is a rare disease in Taiwan, ROC. According to the database of NTUH Newborn Screening Center, the prevalence is about 1 in 7000 male newborns. The treatment guideline is based on the FDA suggestion, the corticosteroid is useful in the control of muscular dystrophy. Recently there are many innovative therapeutic approaches underways, including (1) read through treatment for DMD frameshift mutation, (2) antisense oligonucleotides in specific exon mutation, (3) adeno-associated virus as vectors in gene therapy. All the researches are helpful in management of the DMD patients. The pathological mechanisms are still worth of research. We review recent articles for more development new treatment methods. |
本系統中英文摘要資訊取自各篇刊載內容。