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 used and resulted in clinical stability and improvement.
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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