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

Creator(s)

Claire Elson, Children's Mercy HospitalFollow
Paula Capel, Children's Mercy HospitalFollow
Jessica Haynes, Children's Mercy HospitalFollow
Stephanie Duehlmeyer, Children's Mercy HospitalFollow
Michelle Fischer, Children's Mercy HospitalFollow
Hugo Escobar, Children's Mercy HospitalFollow

Document Type

Article

Publication Date

2022

Identifier

DOI: 10.5863/1551-6776-27.4.396; PMCID: PMC9088447

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.

Journal Title

J Pediatr Pharmacol Ther

Volume

27

Issue

4

First Page

396

Last Page

399

Keywords

case reports; cystic fibrosis; cystic fibrosis transmembrane conductance regulator

Recommended Citation

Elson EC, Capel P, Haynes J, Duehlmeyer S, Fischer M, Escobar H. 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