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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http://dx.doi.org/10.1016/j.jcf.2024.03.008 | DOI Listing |
Clin J Gastroenterol
November 2024
Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Chuo-Ku Sapporo, Hokkaido, S1W16060-8543, Japan.
Enterocutaneous fistulas (ECFs) occurring in the setting of Crohn's disease (CD) are difficult to cure with medical treatment alone and affects a patient's quality of life. A 39-year-old man was diagnosed with an ileocolitis-type CD in 2007. His inflammation was insufficiently controlled despite the administration of an anti-tumor necrosis factor-alpha antibody.
View Article and Find Full Text PDFEur Respir J
September 2024
Royal Brompton Hospital, Adult Cystic Fibrosis Centre, London, UK.
Eur Respir Rev
July 2024
University of Groningen, University Medical Center Groningen (UMCG), Department of Clinical Pharmacy and Pharmacology, Groningen, The Netherlands.
Background: In the last decade, a fundamental shift in the treatment of cystic fibrosis (CF) took place due to the introduction of CF transmembrane conductance regulator (CFTR) modulators. Adequate medication adherence is a prerequisite for their effectiveness, but little is known about adherence to CFTR modulators. We aimed to assess the extent of medication adherence to CFTR modulators in patients with CF and assess which characteristics are associated with adherence.
View Article and Find Full Text PDFJ Cyst Fibros
July 2024
Oslo Centre for Biostatistics and Epidemiology, Oslo University Hospital, Oslo, Norway.
Background: Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is important for early diagnosis and treatment. However, screening can lead to false-positive results leading to unnecessary follow-up tests and distress. This study evaluated the 11-year performance of the Swiss CF-NBS programme, estimated optimal cut-offs for immunoreactive trypsinogen (IRT), and examined how simulated algorithms would change performance.
View Article and Find Full Text PDFJ Cyst Fibros
July 2024
IRCCS Istituto Giannina Gaslini, Cystic Fibrosis Center, Genoa, Italy.
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.
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