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.
Original language | English |
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Number of pages | 13 |
Journal | Journal of Cystic Fibrosis |
Early online date | 21 Mar 2024 |
DOIs | |
Publication status | E-pub ahead of print - 21 Mar 2024 |
Keywords
- 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
ASJC Scopus subject areas
- Pulmonary and Respiratory Medicine
- Pediatrics, Perinatology, and Child Health