Title

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

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

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