| Autor: |
Elena Stekolchik, David Saul, Aaron Chidekel |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Respiratory Medicine Case Reports, Vol 40, Iss , Pp 101775- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2213-0071 |
| DOI: |
10.1016/j.rmcr.2022.101775 |
| Popis: |
Elexacaftor-tezacaftor-ivacaftor (ELX/TEZ/IVA) is a triple combination drug therapy approved for individuals with cystic fibrosis (CF) who possess at least one copy of the F508del cystic fibrosis transmembrane conductance regulator (CFTR) variant. ELX/TEZ/IVA improves lung function and decreases the frequency of CF exacerbations in clinical studies, which has led to investigation of this therapy on rare CFTR variants. Rare mutations have limited research publications; therefore, reporting outcomes is critical to expanding knowledge and understanding of therapeutic efficacy. This case highlights a CF adolescent homozygous for the G85E CFTR variant who had resolution of chronic respiratory symptoms after initiating ELX/TEZ/IVA. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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