Clinical outcome of individuals carrying 5T;TG12 in trans with CFTR variants with varying clinical consequences

Affiliations

¹ Paediatric Unit, Department of Translational Medical Sciences, Cystic Fibrosis Regional Reference Center, University of Naples Federico II, Naples, Italy.
² Adult Unit, Department of Translational Medical Science, Cystic Fibrosis Center, University of Naples Federico II, Naples, Italy.
³ Department of Pathophysiology and Transplantation, Cystic Fibrosis Regional Reference Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
⁴ Mother - Child Department, Cystic Fibrosis Regional Reference Center, United Hospitals, Ancona, Italy.
⁵ Cystic Fibrosis Centre, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
⁶ IRCCS Istituto Giannina Gaslini, Genova, Italy.
⁷ Department of Molecular Medicine and Medical Biotechnology, University of Naples, Naples, Italy.
⁸ CEINGE-Advanced Biotechnology, Naples, Italy.
⁹ Department of Paediatric Medicine, Meyer Children's Hospital IRCCS, Cystic Fibrosis Regional Reference Center, Florence, Italy.

Antonella Tosco et al. Pediatr Pulmonol. 2023 Apr.

. 2023 Apr;58(4):1253-1255.

doi: 10.1002/ppul.26323. Epub 2023 Jan 27.

¹ Paediatric Unit, Department of Translational Medical Sciences, Cystic Fibrosis Regional Reference Center, University of Naples Federico II, Naples, Italy.
² Adult Unit, Department of Translational Medical Science, Cystic Fibrosis Center, University of Naples Federico II, Naples, Italy.
³ Department of Pathophysiology and Transplantation, Cystic Fibrosis Regional Reference Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
⁴ Mother - Child Department, Cystic Fibrosis Regional Reference Center, United Hospitals, Ancona, Italy.
⁵ Cystic Fibrosis Centre, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
⁶ IRCCS Istituto Giannina Gaslini, Genova, Italy.
⁷ Department of Molecular Medicine and Medical Biotechnology, University of Naples, Naples, Italy.
⁸ CEINGE-Advanced Biotechnology, Naples, Italy.
⁹ Department of Paediatric Medicine, Meyer Children's Hospital IRCCS, Cystic Fibrosis Regional Reference Center, Florence, Italy.

No abstract available

Keywords: CBAVD; CRMS/CFSPID; outcomes.

References

1. Terlizzi V, Claut L, Tosco A, et al. A survey of the prevalence, management, and outcome of infants with an inconclusive diagnosis following newborn bloodspot screening for cystic fibrosis (CRMS/CFSPID) in six Italian centres. J Cystic Fib. 2021;20:828-834.
1. Terlizzi V, Mergni G, Centrone C, Festini F, Taccetti G. Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: is there a risk of increasing sweat chloride over time? Pediatr Pulmonol. 2020;55:1089-1093.
1. Castaldo A, Cimbalo C, Castaldo RJ, et al. Cystic fibrosis-screening positive inconclusive diagnosis: newborn screening and long-term follow-up permits to early identify patients with CFTR-related disorders. Diagnostics. 2020;10:570.
1. Tosco A, Castaldo A, Colombo C, et al. Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype. J Cyst Fibros. 2022;S1569-1993(22):00109-6.
1. Farrell PM, White TB, Ren CL, et al. Diagnosis of cystic fibrosis: consensus guidelines from the cystic fibrosis foundation. J Pediatr. 2017;181S:S4-S15.