Standards for the care of people with cystic fibrosis (CF): A timely and accurate diagnosis.

Autor: Castellani C; Cystic Fibrosis Center, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Simmonds NJ; Adult Cystic Fibrosis Centre, Royal Brompton Hospital and Imperial College, London, United Kingdom., Barben J; Division of Paediatric Pulmonology & CF Centre, Children's Hospital of Eastern Switzerland, Claudiusstr. 6, St. Gallen 9006, Switzerland., Addy C; All Wales Adult Cystic Fibrosis Centre, University Hospital Llandough, Cardiff and Vale University Health Board, Cardiff, UK., Bevan A; University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom., Burgel PR; Respiratory Medicine and Cystic Fibrosis National Reference Center, Cochin Hospital, Assistance Publique Hôpitaux de Paris (AP-HP) and Université Paris-Cité, Institut Cochin, Inserm U1016, Paris, France., Drevinek P; Department of Medical Microbiology, Second Faculty of Medicine, Motol University Hospital, Charles University, Prague, Czech Republic., Gartner S; Hospital Universitari Vall d'Hebron, Barcelona, Spain., Gramegna A; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Respiratory Unit and Adult Cystic Fibrosis Center, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milano, Italy., Lammertyn E; Cystic Fibrosis Europe, Brussels, Belgium and the Belgian CF Association, Brussels, Belgium., Landau EEC; The Graub CF Center, Pulmonary Institute, Schneider Children's Medical Center, Petah Tikva, Israel., Middleton PG; Westmead Clinical School, University of Sydney and CITRICA, Dept Respiratory & Sleep Medicine, Westmead Hospital, Westmead, Australia., Plant BJ; Cork Centre for Cystic Fibrosis (3CF), Cork University Hospital, Cork, Ireland., Smyth AR; School of Medicine, Dentistry and Biomedical Sciences, Queens University Belfast, Belfast and NIHR Nottingham Biomedical Research Centre, Nottingham, UK., van Koningsbruggen-Rietschel S; CF Centre Cologne, Children's Hospital, Faculty of Medicine and University of Cologne, Kerpener Str. 62, Cologne 50937, Germany., Girodon E; Molecular Genetics Laboratory, Cochin Hospital, Assistance Publique-Hôpitaux de Paris, Université de Paris, Paris, France., Kashirskaya N; Laboratory of genetic epidemiology, Research Centre for Medical Genetics/Moscow Regional Research and Clinical Institute, Moscow, Russian Federation., Munck A; Hospital Necker Enfants-Malades, AP-HP, CF centre, Université Paris Descartes, Paris, France., Nährlich L; Department of Pediatrics, Justus-Liebig-University Giessen, Giessen, Germany., Raraigh K; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, United States., Sermet-Gaudelus I; 1 INSERM U1151, Institut Necker Enfants Malades, and Centre de Références Maladies Rares, Mucoviscidose et Maladies apparentées, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP)-Centre, and AP-HP, Hôpital Universitaire Necker-Enfants Malades, Service de Pneumologie Pédiatrique, Centre de Référence pour les Maladies Respiratoires Rares de l'Enfant, Paris, France., Sommerburg O; Paediatric Pulmonology, Allergology & CF Centre, Department of Paediatrics III, and Translational Lung Research Center, German Lung Research Center, University Hospital Heidelberg, Germany., Southern KW; Department of Women's and Children's Health, University of Liverpool, Liverpool, UK. Electronic address: kwsouth@liv.ac.uk.
Jazyk: angličtina
Zdroj: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2023 Nov; Vol. 22 (6), pp. 963-968. Date of Electronic Publication: 2023 Sep 27.
DOI: 10.1016/j.jcf.2023.09.008
Abstrakt: There is considerable activity with respect to diagnosis in the field of cystic fibrosis (CF). This relates primarily to developments in newborn bloodspot screening (NBS), more extensive gene analysis and improved characterisation of CFTR-related disorder (CFTR-RD). This is particularly pertinent with respect to accessibility to variant-specific therapy (VST), a transformational intervention for people with CF with eligible CFTR gene variants. This advance reinforces the need for a timely and accurate diagnosis. In the future, there is potential for trials to assess effectiveness of variant-specific therapy for CFTR-RD. The guidance in this paper reaffirms previous standards, clarifies a number of issues, and integrates emerging evidence. Timely and accurate diagnosis has never been more important for people with CF.
Competing Interests: Declaration of Competing Interest None.
(Copyright © 2023. Published by Elsevier B.V.)
Databáze: MEDLINE
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