頁籤選單縮合
題名 | 威爾森氏病概述=Wilson's Disease |
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作者 | 郭廷濠; Kuo, Ting-hao; |
期刊 | 藥學雜誌 |
出版日期 | 20191200 |
卷期 | 35:4=141 2019.12[民108.12] |
頁次 | 頁31-35 |
分類號 | 415.596 |
語文 | chi |
關鍵詞 | 威爾森氏病; Wilson's disease; ATP7B; Trientine; Penicillamine; |
中文摘要 | 威爾森氏病係一體染色體隱性遺傳疾病,其突變位於第13 條染色體短臂處,造 成 ATP7B 運輸蛋白功能異常,為銅離子代謝異常疾病,過多的銅堆積會造成肝臟及 神經精神症狀,目前藥物治療方式為使用金屬螯合劑及銅離子吸收抑制,經適當治療 後患者大多有良好的成效。 |
英文摘要 | Wilson's disease is an autosomal recessive disease, which leads to abnormality in copper metabolism. The mutation is located on chromosome 13 and cause defect in ATP7B. Excessive copper accumulation results in liver injury and neuropsychiatric disturbances. To date, pharmacological treatment including chelating agent and the agents which inhibit the uptake of copper from the gastrointestinal tract. Most patients with Wilson disease will have good outcome after therapies. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。