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

Autor: Tosco A; Paediatric Unit, Department of Translational Medical Sciences, Cystic Fibrosis Regional Reference Center, University of Naples Federico II, Naples, Italy., Castaldo A; Paediatric Unit, Department of Translational Medical Sciences, Cystic Fibrosis Regional Reference Center, University of Naples Federico II, Naples, Italy., Colombo C; Cystic Fibrosis Regional Reference Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Department of Pathophysiology and Transplantation, Milan, Italy., Claut L; Cystic Fibrosis Regional Reference Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Department of Pathophysiology and Transplantation, Milan, Italy., Carnovale V; Department of Translational Medical Science, Cystic Fibrosis Center, Adult Unit, University of Naples 'Federico II', Italy., Iacotucci P; Department of Translational Medical Science, Cystic Fibrosis Center, Adult Unit, University of Naples 'Federico II', Italy., Lucarelli M; Dept of Experimental Medicine, Sapienza University of Rome, Rome, Italy; Pasteur Institute, Cenci Bolognetti Foundation, Sapienza University of Rome, Rome, Italy., Cimino G; Cystic Fibrosis Regional Reference Center, A.O.U. Policlinico Umberto I, Rome, Italy., Fabrizzi B; Cystic Fibrosis Regional Reference Center, Mother - Child Department, United Hospitals, Ancona, Italy., Caporelli N; Cystic Fibrosis Regional Reference Center, Mother - Child Department, United Hospitals, Ancona, Italy., Majo F; Cystic Fibrosis Centre, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Ciciriello F; Cystic Fibrosis Centre, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Padoan R; Cystic Fibrosis Regional Support Center, Department of Pediatrics, University of Brescia, ASST Spedali Civili Brescia, Brescia, Italy., Poli P; Cystic Fibrosis Regional Support Center, Department of Pediatrics, University of Brescia, ASST Spedali Civili Brescia, Brescia, Italy., Taccetti G; Meyer Children's Hospital, Cystic Fibrosis Regional Reference Center, Department of Paediatric Medicine, Viale Gaetano Pieraccini 24, Florence, Italy., Centrone C; Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy., Casciaro R; IRCCS Istituto Giannina Gaslini, Genova, Italy., Castellani C; IRCCS Istituto Giannina Gaslini, Genova, Italy., Salvatore D; Cystic Fibrosis Center, Hospital San Carlo, Potenza, Italy., Colangelo C; Cystic Fibrosis Center, Hospital San Carlo, Potenza, Italy., Bonomi P; Freelance Statistician, Milan, Italy., Castaldo G; Department of Molecular Medicine and Medical Biotechnology, University of Naples, Naples, Italy; CEINGE-Advanced Biotechnology, Naples, Italy., Terlizzi V; Meyer Children's Hospital, Cystic Fibrosis Regional Reference Center, Department of Paediatric Medicine, Viale Gaetano Pieraccini 24, Florence, Italy. Electronic address: vito.terlizzi@meyer.it.
Jazyk: angličtina
Zdroj: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2022 Sep; Vol. 21 (5), pp. 850-855. Date of Electronic Publication: 2022 May 04.
DOI: 10.1016/j.jcf.2022.04.020
Abstrakt: Background: 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.
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.
Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest and no financial rela- tionships relevant to this article to disclose.
(Copyright © 2022 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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