Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype.

Adolescent Cohort Studies Cystic Fibrosis / diagnosis Cystic Fibrosis Transmembrane Conductance Regulator / genetics Female Genotype Humans Mutation Retrospective Studies

CBAVD CFTR-RD CRMS/CFSPID FEV1 Outcomes Spirometry

Journal

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

ISSN: 1873-5010

Titre abrégé: J Cyst Fibros

Pays: Netherlands

ID NLM: 101128966

Informations de publication

Date de publication:
09 2022

Historique:

received: 09 12 2021

revised: 16 03 2022

accepted: 26 04 2022

pubmed: 7 5 2022

medline: 28 9 2022

entrez: 6 5 2022

Statut: ppublish

Résumé

In recent years, patients with cystic fibrosis (CF) conductance regulator (CFTR) variant poly(T) sequences have been increasingly reported with a wide spectrum of clinical severity. We describe the long-term clinical outcomes and progression to a CF diagnosis over time in a large Italian cohort of patients carrying the CFTR F508del/5T;TG12 genotype. A retrospective analysis of subjects from 10 CF centres in Italy with the F508del/5T;TG12 genotype was performed. Demographic, clinical, microbiological, and biochemical data, as well as information about the follow-ups and complications of the enroled patients, were collected. A total of 129 subjects (54 females; median age: 15.0 years, range: 0-58 years; 59 older than 18 years) were included. In terms of initial diagnoses, 30 were CF (23.3%), 41 were CFTR-related disorder (CFTR-RD) (31.7%), and 58 were CF transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) (45.0%). After a median follow-up of 6.7 years (range 0.2-25 years), 15 patients progressed to CF, bringing the total number of CF diagnoses to 45/129 (34.9%). Most of these patients had mild lung diseases with pancreatic sufficiency and a low prevalence of CF-related complications. At the end of the study, 34.9% of subjects with the CFTR F508del/5T;TG12 genotype were diagnosed with CF. We suggest including patients with the F508del/5T;TG12 genotype in long-term follow-ups.

Sections du résumé

BACKGROUND

METHODS

A retrospective analysis of subjects from 10 CF centres in Italy with the F508del/5T;TG12 genotype was performed. Demographic, clinical, microbiological, and biochemical data, as well as information about the follow-ups and complications of the enroled patients, were collected.

RESULTS

A total of 129 subjects (54 females; median age: 15.0 years, range: 0-58 years; 59 older than 18 years) were included. In terms of initial diagnoses, 30 were CF (23.3%), 41 were CFTR-related disorder (CFTR-RD) (31.7%), and 58 were CF transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID) (45.0%). After a median follow-up of 6.7 years (range 0.2-25 years), 15 patients progressed to CF, bringing the total number of CF diagnoses to 45/129 (34.9%). Most of these patients had mild lung diseases with pancreatic sufficiency and a low prevalence of CF-related complications.

CONCLUSIONS

At the end of the study, 34.9% of subjects with the CFTR F508del/5T;TG12 genotype were diagnosed with CF. We suggest including patients with the F508del/5T;TG12 genotype in long-term follow-ups.

Identifiants

DOI: 10.1016/j.jcf.2022.04.020 PMID: 35523714

pubmed: 35523714

pii: S1569-1993(22)00109-6

doi: 10.1016/j.jcf.2022.04.020

pii:

doi:

Substances chimiques

CFTR protein, human 0

Cystic Fibrosis Transmembrane Conductance Regulator 126880-72-6

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

Pagination

850-855

Informations de copyright

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors have no conflicts of interest and no financial rela- tionships relevant to this article to disclose.