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

ABPA Aquagenic palmoplantar keratoderma Aquagenic wrinkling Bronchiestasis CFTR CFTR-related disorder Congenital absence of the vas deferens Cystic fibrosis Genetics Intestinal current measurement Nasal potential difference Pancreatitis Rhinosinusitis Sclerosing cholangitis Sweat test

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:
19 Mar 2024
Historique:
received: 21 11 2023
revised: 06 02 2024
accepted: 08 03 2024
medline: 21 3 2024
pubmed: 21 3 2024
entrez: 20 3 2024
Statut: aheadofprint

Résumé

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.

Identifiants

DOI: 10.1016/j.jcf.2024.03.008 PMID: 38508949
pubmed: 38508949
pii: S1569-1993(24)00037-7
doi: 10.1016/j.jcf.2024.03.008
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2024. Published by Elsevier B.V.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: NJS reports consulting fees and/or honoraria from Vertex, Chiesi, Gilead and Menarini. KDB reports consulting fees and/or honoraria from Vertex, ELoxx, Splisense and Arcturus. JGM reports honoraria from Vertex, Chiesi, Abbvie and Viatris. PGM reports consulting fees and/or honoraria from Vertex, AstraZenica, Limbic and MedEd. CS reports consulting fees and/or honoraria from Vertex, Chiesi, TFF and Pfizer. JC reports consulting fees for Astrazeneca, Boehringer Ingelheim, Grifols, Gilead sciences, Insmed, Genentech, Glaxosmithkline, Antabio, Zambon and Trudell. OCY reports consulting fees and honoraria from Vertex. DGD reports consulting fees and/or honoraria from Chiesi, Insmed and Vertex. DP reports payments for educational talks. DVD reports consulting fees for Arcturus, Arrevus, BiomX, Clarametyx, CFF, Enbiotix, Microbion, Pyros, Respirion and Zambon. ISG reports honoraria from Vertex. KWS, FB, VV, EDW, MW, EB, DD, PE, EG, GH, AK, DN, JAN, CR, IS, MDW report no personal fees/honoraria

Auteurs

N J Simmonds (NJ)

Adult Cystic Fibrosis Centre, Royal Brompton Hospital, London, UK; National Heart and Lung Institute, Imperial College London, UK. Electronic address: n.simmonds@imperial.ac.uk.

K W Southern (KW)

Department of Women's and Children's Health, University of Liverpool, University of Liverpool, Alder Hey Children's Hospital, Liverpool, UK.

E De Wachter (E)

Cystic Fibrosis Center, Pediatric Pulmonology department, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.

K De Boeck (K)

Department of Pediatrics, University of Leuven, Leuven, Belgium.

F Bodewes (F)

Pediatric Gastroenterology and Hepatology, Department of Pediatrics, University of Groningen Medical Center, Groningen, the Netherlands.

J G Mainz (JG)

Cystic Fibrosis Center, Brandenburg Medical School (MHB), University, Klinikum Westbrandenburg, Brandenburg an der Havel, Germany.

P G Middleton (PG)

Cystic Fibrosis and Bronchiectasis Service, Department of Respiratory and Sleep Medicine, Westmead Hospital, Sydney, News South Wales, Australia.

C Schwarz (C)

HMU-Health and Medical University Potsdam, CF Center Westbrandenburg, Campus Potsdam, Germany.

V Vloeberghs (V)

Brussels IVF, Centre for Reproductive Medicine, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.

M Wilschanski (M)

CF Center, Department of Pediatrics, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

E Bourrat (E)

APHP, Service de Dermatologie, CRMR MAGEC Nord St Louis, Hôpital-Saint Louis, Paris, France.

J D Chalmers (JD)

Division of Molecular and Clinical Medicine, University of Dundee, Dundee, UK.

C Y Ooi (CY)

a) School of Clinical Medicine, Discipline of Paediatrics and Child Health, Medicine & Health, University of New South Wales, Level 8, Centre for Child Health Research & Innovation Bright Alliance Building Cnr Avoca & High Streets, Randwick, Sydney, NSW, Australia, 2031; b) Sydney Children's Hospital, Gastroenterology Department, High Street, Randwick, Sydney, NSW, Australia, 2031.

D Debray (D)

Pediatric Hepatology unit, Centre de Référence Maladies Rares (CRMR) de l'atrésie des voies biliaires et cholestases génétiques (AVB-CG), National network for rare liver diseases (Filfoie), ERN rare liver, Hôpital Necker-Enfants Malades, AP-HP, Université de Paris, Paris, France; Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine (CRSA), Institute of Cardiometabolism and Nutrition (ICAN), Paris, France.

D G Downey (DG)

Wellcome-Wolfson Institute for Experimental Medicine, Queen's University Belfast, Belfast, UK.

P Eschenhagen (P)

CF Center Westbrandenburg, Potsdam, Germany.

E Girodon (E)

Service de Médecine Génomique des Maladies de Système et d'Organe, APHP.Centre - Université de Paris Cité, Hôpital Cochin, Paris, France.

G Hickman (G)

APHP, Service de Dermatologie, CRMR MAGEC Nord St Louis, Hôpital-Saint Louis, Paris, France.

A Koitschev (A)

Klinikum Stuttgart, Pediatric Otorhinolaryngology, Stuttgart, Germany.

D Nazareth (D)

a) Adult CF Unit, Liverpool Heart and Chest Hospital NHS Foundation Trust, U.K; b) Clinical Infection, Microbiology and Immunology, University of Liverpool, UK.

J A Nick (JA)

Department of Medicine, National Jewish Health, Denver, CO, 80206, USA, Department of Medicine, University of Colorado School of Medicine, Aurora, CO, 80045, USA.

D Peckham (D)

Leeds Institute of Medical Research, University of Leeds, Leeds, United Kingdom.

D VanDevanter (D)

Department of Pediatrics, School of Medicine, Case Western Reserve University, Cleveland, Ohio, USA.

C Raynal (C)

Laboratory of molecular genetics, University Hospital of Montpellier and INSERM U1046 PHYMEDEXP, Montpellier, France.

I Scheers (I)

Department of Pediatrics, Pediatric Gastroenterology and Hepatology Unit, Cliniques Universitaires Saint Luc, Université Catholique de Louvain, Brussels, Belgium.

M D Waller (MD)

Adult Cystic Fibrosis and Respiratory Medicine, King's College Hospital NHS Foundation Trust, London, United Kingdom; Honorary Senior Lecturer, King's College London, London, United Kingdom.

I Sermet-Gaudelus (I)

INSERM U1151, Institut Necker Enfants Malades, Paris, France; Université de Paris, Paris, France; Centre de référence Maladies Rares, Mucoviscidose et maladies apparentées, Hôpital Necker Enfants malades, Paris, France.

C Castellani (C)

IRCCS Istituto Giannina Gaslini, Cystic Fibrosis Center, Genoa, Italy.

Classifications MeSH