Elexacaftor/tezacaftor/ivacaftor in an individual with cystic fibrosis caused by a N1303K CFTR variant and infected with Mycobacterium abscessus

E. Elson, Paula Capel,Jessica Haynes, Stephanie Duehlmeyer,Michelle Fischer, Hugo Escobar

Authorea (Authorea)(2021)

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摘要
This report describes a case of a 15-year-old male with cystic fibrosis caused by N1303K and Q493X cystic fibrosis transmembrane conductance regulator (CFTR) protein variants. In this case, CFTR modulators including tezacaftor/ivacaftor and subsequently elexacaftor/tezacaftor/ivacaftor were utilized and resulted in clinical stability and improvement.
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关键词
cystic fibrosis,mycobacterium,elexacaftor/tezacaftor/ivacaftor
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