CFTR Modulator Therapy in an Individual With Cystic Fibrosis Caused by a N1303K CFTR Variant and Infected With Mycobacterium abscessus

E Claire Elson; Paula Capel; Jessica Haynes; Stephanie Duehlmeyer; Michelle Fischer; Hugo Escobar

doi:10.5863/1551-6776-27.4.396

CFTR Modulator Therapy in an Individual With Cystic Fibrosis Caused by a N1303K CFTR Variant and Infected With Mycobacterium abscessus

J Pediatr Pharmacol Ther. 2022;27(4):396-399. doi: 10.5863/1551-6776-27.4.396. Epub 2022 May 9.

Authors

E Claire Elson¹, Paula Capel¹, Jessica Haynes¹, Stephanie Duehlmeyer¹, Michelle Fischer¹, Hugo Escobar¹

Affiliation

¹ Children's Mercy, Kansas City, MO.

Abstract

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.

Keywords: case reports; cystic fibrosis; cystic fibrosis transmembrane conductance regulator.