Cystic Fibrosis: Two Case Reports of Adults in Taiwan

囊腫纖維症：台灣兩成人病例報告

林志鴻(Chih-Hung Lin) ； 邱銘煌(Ming-Huang Chiu)

《輔仁醫學期刊》 17卷3期 (2019/09) Pp. 135-140

https://doi.org/10.3966/181020932019091703004

摘要

Almost any adult bronchiectasis is considered a non-cystic fibrosis in Taiwan. Herein, we present two cystic fibrosis cases with bronchiectasis and recurrent pulmonary infection. DNA extracted from the peripheral blood was sent for molecular diagnosis of cystic fibrosis transmembrane conductance regulator gene mutation analysis under clinical suspicion. Mutation variant analysis improves the epidemiological and genetic database to develop additional precision medicines for cystic fibrosis patients of different ethnicities.

關鍵字

cystic fibrosis ； cystic fibrosis transmembrane conductance regulator gene mutation variant

並列摘要

幾乎所有成人支氣管擴張在台灣都被認為是非囊性纖維化。在這裡，我們有兩個囊性纖維化病例，表現為支氣管擴張和復發性肺部感染。因為高度臨床懷疑，從周邊血中提取的脫氧核糖核酸送實驗室囊性纖維化跨膜調節基因突變分析的分子診斷。突變變異分析將改進流行病學和遺傳數據庫，以開發未來不同種族的囊性纖維化之精確醫學。

並列關鍵字

囊腫纖維症 ； CFTR基因突變變異