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頁籤選單縮合
題名 | Novel Mutation (I1023R) in Two Taiwanese Siblings of Cystic Fibrosis=囊性纖維化新突變點(I1023R)的發現:兩名臺灣兄弟病例 |
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作者姓名(中文) | 何宇苓; 吳宛昭; 黃健燊; 黃崇濱; 牛震廣; 徐世達; 黃立心; 吳柏蒼; | 書刊名 | 中華民國兒童胸腔醫學會雜誌 |
卷期 | 5:3 2007.05[民96.05] |
頁次 | 頁152-158 |
分類號 | 415.135 |
關鍵詞 | 新突變點; 囊性纖維化; 臺灣; Novel mutation; Cystic fibrosis; Taiwan; |
語文 | 英文(English) |
中文摘要 | 囊性纖維化為一種東方人少見的隱性遺傳疾病,目前有基因突變確診而被發表的台灣病例不到十個,我們這次發表的一對台灣兄弟病例,皆有找到相同的兩個基因突變點。其中一捆是1898+SG->T,或許可以用來解釋為何這些台灣囊性纖維化的息者不約而同地很少有胰臟方面的問題;另一個是新的突變點I1023R。兩兄弟在臨床上的表現都有呼吸道阻塞、反覆的綠膿桿菌感染、慢性鼻竇炎以及支氣管擴張不全的症狀,目前正在接受Tobramycin早晚各300毫克的藥物吸入治療。 |
英文摘要 | Cystic fibrosis (CF) is an autosomal recessive disorder that is rarely diagnosed definitely in Asians. Less than ten cases of Taiwanese CF with certain gene mutations were published up till now. We report two cases of CF that involved two adolescent Taiwanese siblings. They were identified by direct DNA sequence analysis and both were found to have the same two mutation sites. One is 1898+5G->T which may well explain the pancreatic sufficient phenotype several Taiwanese with CF have in common. The other is a novel mutation I1023R. Both of the siblings presented with airway obstruction symptoms, recurrent infections with Pseudomonas aeruginosa, chronic sinusitis, and bronchiectasis. They are accepting treatment with inhaled Tobramycin 300mg twice daily currently. |
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