Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del].
CFTR modulators
complex allele
cystic fibrosis (CF)
intestinal current measurements (ICM)
intestinal organoids
targeted therapy
Journal
Current issues in molecular biology
ISSN: 1467-3045
Titre abrégé: Curr Issues Mol Biol
Pays: Switzerland
ID NLM: 100931761
Informations de publication
Date de publication:
21 Oct 2022
21 Oct 2022
Historique:
received:
08
09
2022
revised:
16
10
2022
accepted:
18
10
2022
entrez:
26
10
2022
pubmed:
27
10
2022
medline:
27
10
2022
Statut:
epublish
Résumé
The presence of complex alleles in the CFTR gene can lead to difficulties in diagnosing cystic fibrosis and cause resistance to therapy with CFTR modulators. Tezacaftor/ivacaftor therapy for 8 months in a patient with the initially established F508del/F508del genotype did not lead to an improvement in her condition-there was no change in spirometry and an increase in the patient's weight, while there was only a slight decrease in NaCl values, measured by a sweat test. The intestinal current measurements of the patient's rectal biopsy showed no positive dynamics in the rescue of CFTR function while taking tezacaftor/ivacaftor. The assumption that the patient had an additional mutation in the cis position was confirmed by sequencing the
Identifiants
pubmed: 36286063
pii: cimb44100349
doi: 10.3390/cimb44100349
pmc: PMC9600521
doi:
Types de publication
Journal Article
Langues
eng
Pagination
5126-5138Subventions
Organisme : Russian Science Foundation
ID : 22-15-00473
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