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

N J SimmondsK W SouthernE De WachterK De BoeckF BodewesJ G MainzP G MiddletonC SchwarzV VloeberghsM WilschanskiE BourratJ D ChalmersC Y OoiD DebrayD G DowneyP EschenhagenE GirodonG HickmanA KoitschevD NazarethJ A NickD PeckhamD VanDevanterC RaynalI ScheersM D WallerI Sermet-GaudelusC Castellaninull null
Published in: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society (2024)
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.
Keyphrases
  • cystic fibrosis
  • healthcare
  • small molecule
  • chronic rhinosinusitis
  • liver failure
  • pain management
  • social media
  • genome wide
  • current status
  • affordable care act
  • respiratory failure
  • dna methylation
  • allergic rhinitis