ECFS standards of care on CFTR-related disorders: Identification and care of the disorders - Institut de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition
Journal Articles Journal of Cystic Fibrosis Year : 2024

ECFS standards of care on CFTR-related disorders: Identification and care of the disorders

1 Royal Brompton Hospital
2 Imperial College London
3 University of Liverpool
4 Alder Hey Children's Hospital
5 UZ Brussel - Universitair Ziekenhuis Brussel = University Hospital of Brussels
6 VUB - Vrije Universiteit Brussel [Bruxelles]
7 KU Leuven - Catholic University of Leuven = Katholieke Universiteit Leuven
8 University of Groningen [Groningen]
9 MHB Theodor Fontane - Medizinische Hochschule Brandenburg Theodor Fontane / Brandenburg Medical School Theodor-Fontane
10 Westmead Hospital [Sydney]
11 HMU - Health and Medical University [Potsdam, Germany]
12 Hadassah Hebrew University Medical Center [Jerusalem]
13 AP-HP - Hopital Saint-Louis [AP-HP]
14 University of Dundee
15 UNSW - University of New South Wales [Sydney]
16 Sydney Children's hospital
17 Hôpital Necker - Enfants Malades [AP-HP]
18 CRSA - Centre de Recherche Saint-Antoine
19 IHU ICAN - Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière]
20 QUB - Queen's University [Belfast]
21 UPCité - Université Paris Cité
22 Hôpital Cochin [AP-HP]
23 Klinikum Stuttgart-Olgahospital [Stuttgart, Germany]
24 NJH - National Jewish Health
25 University of Colorado Anschutz [Aurora]
26 University of Leeds
27 Case Western Reserve University [Cleveland]
28 PhyMedExp - Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046]
29 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
30 Cliniques Universitaires Saint-Luc [Bruxelles]
31 UCL - Université Catholique de Louvain = Catholic University of Louvain
32 King‘s College London
33 INEM - UM 111 (UMR 8253 / U1151) - Institut Necker Enfants-Malades
34 IRCCS Istituto Giannina Gaslini [Genoa, Italy]
P.G. Middleton
D.G. Downey
P. Eschenhagen
D. Peckham
M.D. Waller

Abstract

This is the third paper in the series providing updated information and recommendations for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder (CFTR-RD). This paper covers the individual disorders, including the established conditions - congenital absence of the vas deferens (CAVD), diffuse bronchiectasis and chronic or acute recurrent pancreatitis - and also other conditions which might be considered a CFTR-RD, including allergic bronchopulmonary aspergillosis, chronic rhinosinusitis, primary sclerosing cholangitis and aquagenic wrinkling. The CFTR functional and genetic evidence in support of the condition being a CFTR-RD are discussed and guidance for reaching the diagnosis, including alternative conditions to consider and management recommendations, is provided. Gaps in our knowledge, particularly of the emerging conditions, and future areas of research, including the role of CFTR modulators, are highlighted.
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Dates and versions

hal-04550912 , version 1 (15-07-2024)

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N.J. Simmonds, K.W. Southern, E. de Wachter, K. de Boeck, F. Bodewes, et al.. ECFS standards of care on CFTR-related disorders: Identification and care of the disorders. Journal of Cystic Fibrosis, 2024, Online ahead of print. ⟨10.1016/j.jcf.2024.03.008⟩. ⟨hal-04550912⟩
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