CFTR Modulators Rescue the Activity of CFTR in Colonoids Expressing the Complex Allele p.[R74W;V201M;D1270N]/dele22_24.
CFTR modulators
FIS assay
Ussing chambers
complex CFTR alleles
personalized medicine
rectal organoids
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
08 Mar 2023
08 Mar 2023
Historique:
received:
31
01
2023
revised:
24
02
2023
accepted:
02
03
2023
medline:
30
3
2023
entrez:
29
3
2023
pubmed:
30
3
2023
Statut:
epublish
Résumé
An Italian, 46-year-old female patient carrying the complex allele p.[R74W;V201M;D1270N] in trans with CFTR dele22_24 was diagnosed at the Cystic Fibrosis (CF) Center of Verona as being affected by CF-pancreatic sufficient (CF-PS) in 2021. The variant V201M has unknown significance, while both of the other variants of this complex allele have variable clinical consequences, according to the CFTR2 database, with reported clinical benefits for treatment with ivacaftor + tezacaftor and ivacaftor + tezacaftor + elexacaftor in patients carrying the R74W-D1270N complex allele, which are currently approved (in USA, not yet in Italy). She was previously followed up by pneumologists in northern Italy because of frequent bronchitis, hemoptysis, recurrent rhinitis,
Identifiants
pubmed: 36982273
pii: ijms24065199
doi: 10.3390/ijms24065199
pmc: PMC10048957
pii:
doi:
Substances chimiques
Cystic Fibrosis Transmembrane Conductance Regulator
126880-72-6
ivacaftor
1Y740ILL1Z
Colforsin
1F7A44V6OU
Benzodioxoles
0
CFTR protein, human
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : CFFT
ID : Assael08A0
Organisme : Italian Cystic Fibrosis Research Foundation
ID : FFC #13/2018
Organisme : Italian Cystic Fibrosis Research Foundation
ID : FFC#9/2020
Organisme : Lega Italiana Fibrosi Cistica onlus
ID : Research grant
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