Simmonds, N.J., Southern, K.W., De Wachter, E. et al. (26 more authors) (2024) ECFS standards of care on CFTR-related disorders: Identification and care of the disorders. Journal of Cystic Fibrosis, 23 (4). pp. 590-602. ISSN 1569-1993
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.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Keywords: | CFTR-related disorder, Cystic fibrosis, CFTR, Genetics, Sweat test, Nasal potential difference, Intestinal current measurement, Congenital absence of the vas deferens, Pancreatitis, Bronchiestasis, ABPA, Rhinosinusitis, Sclerosing cholangitis, Aquagenic wrinkling, Aquagenic palmoplantar keratoderma |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Leeds Institute of Medical Research (LIMR) > Division of Molecular Medicine |
Depositing User: | Symplectic Publications |
Date Deposited: | 11 Jul 2024 10:15 |
Last Modified: | 18 Oct 2024 14:30 |
Status: | Published |
Publisher: | Elsevier |
Identification Number: | 10.1016/j.jcf.2024.03.008 |
Related URLs: | |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:214664 |