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

N. J. Simmonds*, K. W. Southern, E. De Wachter, K. De Boeck, F. Bodewes, J. G. Mainz, P. G. Middleton, C. Schwarz, V. Vloeberghs, M. Wilschanski, E. Bourrat, J. D. Chalmers, C. Y. Ooi, D. Debray, D. G. Downey, P. Eschenhagen, E. Girodon, G. Hickman, A. Koitschev, D. NazarethJ. A. Nick, D. Peckham, D. VanDevanter, C. Raynal, I. Scheers, M. D. Waller, I. Sermet-Gaudelus, C. Castellani, ECFS Diagnostic Network Working Group

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
JournalJournal of Cystic Fibrosis
Early online date19 Mar 2024
DOIs
Publication statusEarly online date - 19 Mar 2024

Bibliographical note

Publisher Copyright:
© 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

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

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