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題名 | 法布瑞氏症藥物治療=Treatment for Fabry Disease |
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作者 | 鍾雅旬; 許郁笙; 曾雅聘; Chung, Ya-hsun; Shu, Yu-shen; Tseng, Ya-pin; |
期刊 | 藥學雜誌 |
出版日期 | 20130900 |
卷期 | 29:3=116 2013.09[民102.09] |
頁次 | 頁82-86 |
分類號 | 417.134 |
語文 | chi |
關鍵詞 | 法布瑞氏症; α-半乳糖甘酵素; 酵素替代療法; 症狀療法; ERT; |
中文摘要 | 法布瑞氏症 (Fabry disease) 是一種罕見的遺傳疾病,病因為位於X染色體負責製造α-半乳糖苷酵素 (α-galactosidase A) 的基因出現異常,造成溶小體α-半乳糖苷酵素活性喪失,而無法正常代謝醣神經胺醇脂 (globotriaosylcermide, GL-3)。GL-3堆積在全身細胞內的溶小體及細胞質,造成腎臟、心臟與腦血管病變。GL-3也會造成周邊神經病變,導致臨床上病人出現四肢疼痛的症狀,而最常見的病況是因心臟病變而猝死。目前臨床治療以酵素替代療法以及症狀治療為主。藉由本文,可提供藥師對於此罕見疾病及其治療藥物的進一步認識。 |
英文摘要 | Fabry disease is a rare inherited disorder resulted from mutated X chromosome genes that are responsible for producing α-galactosidase A, an enzyme metabolizing globotriaosylcermide. The deficiency of α-galactosidase A causes the loss of lysosome activity and impairs the degradation of globotriaosylcermide (GL-3). GL-3 accumulates in lysosomes and the cytoplasm resulting to damages of kidneys, hearts and cerebral vessels. Accumulated GL-3 also causes peripheral neuropathy, pain of limbs and, most commonly, sudden death due to cardiopathy. The treatment of Fabry disease includes enzyme replacement therapy (ERT) and symptomatic management. The purpose of this article is to provide pharmacists further awareness regarding on this rare disease and its updated treatment. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。