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Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae
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ECFS standards of care on CFTR-related disorders: Identification and care of the disorders

N J Simmonds1, K W Southern2, E De Wachter3

  • 1Adult Cystic Fibrosis Centre, Royal Brompton Hospital, London, UK; National Heart and Lung Institute, Imperial College London, UK.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|March 20, 2024
PubMed

Insights

This paper updates recommendations for cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder (CFTR-RD). It details established and emerging CFTR-RD conditions, diagnostic guidance, and future research directions, including CFTR modulators.

Area of Science:

  • Genetics and Molecular Biology
  • Pulmonology
  • Gastroenterology

Background:

  • Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)-related disorder (CFTR-RD) encompasses a spectrum of conditions linked to CFTR gene dysfunction.
  • Established CFTR-RDs include congenital absence of the vas deferens (CAVD), diffuse bronchiectasis, and recurrent pancreatitis.
  • Emerging conditions potentially linked to CFTR dysfunction are also increasingly recognized.

Purpose of the Study:

  • To provide updated information and clinical recommendations for diagnosing and managing CFTR-related disorders.
  • To discuss the genetic and functional evidence supporting various conditions as CFTR-RDs.
  • To highlight knowledge gaps and future research priorities, including the role of novel therapeutics.

Main Methods:

  • Review and synthesis of existing literature on CFTR-related disorders.
  • Analysis of genetic and functional data supporting CFTR-RD diagnoses.
  • Development of diagnostic criteria and management guidelines.

Main Results:

  • Comprehensive overview of established CFTR-RDs (CAVD, bronchiectasis, pancreatitis) and emerging conditions (allergic bronchopulmonary aspergillosis, chronic rhinosinusitis, primary sclerosing cholangitis, aquagenic wrinkling).
  • Discussion of CFTR functional and genetic evidence for each condition.
  • Guidance on diagnosis, differential diagnoses, and management strategies.

Conclusions:

  • CFTR-RD is a complex spectrum of diseases requiring careful diagnostic evaluation.
  • Further research is crucial to understand emerging CFTR-RDs and optimize management.
  • The potential of CFTR modulators offers new therapeutic avenues for patients with CFTR-related disorders.

Keywords:
ABPAAquagenic palmoplantar keratodermaAquagenic wrinklingBronchiestasisCFTRCFTR-related disorderCongenital absence of the vas deferensCystic fibrosisGeneticsIntestinal current measurementNasal potential differencePancreatitisRhinosinusitisSclerosing cholangitisSweat test

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