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The spectrum of CFTR dysfunction in patients with nontuberculous mycobacterial pulmonary disease

Arthur Lemson1, Monique Reijers1, Dineke Westra2

  • 1Department of Pulmonary Diseases, Research Institute for Medical Innovation, Radboud University Medical Center, Radboudumc Community for Infectious Diseases, PO Box 9101, 6500 HB, Nijmegen, the Netherlands.

Respiratory Investigation
|August 2, 2025
PubMed

Insights

Cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction is linked to nontuberculous mycobacterial pulmonary disease (NTM-PD). This study identified clinical features and CFTR variants in NTM-PD patients, suggesting CFTR dysfunction contributes to disease development.

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Infectious Diseases

Background:

  • Dysfunctional cystic fibrosis transmembrane conductance regulator (CFTR) protein is an understudied risk factor for nontuberculous mycobacterial pulmonary disease (NTM-PD).
  • Understanding the clinical characteristics of NTM-PD patients with CFTR dysfunction is crucial for disease management and research.

Purpose of the Study:

  • To identify clinical features of NTM-PD patients with CFTR dysfunction.
  • To investigate the prevalence of CFTR dysfunction in NTM-PD patients.
  • To explore the association between CFTR dysfunction and NTM-PD pathogenesis.

Main Methods:

  • Retrospective review of health records for NTM-PD patients.
  • Definition of CFTR dysfunction by sweat chloride concentration (SCC) ≥30 mmol/L.
  • CFTR genotyping for patients with elevated SCC.

Main Results:

  • Among 40 NTM-PD patients, 57.5% had elevated SCC, indicating CFTR dysfunction.
  • Female sex, low BMI, tobacco use, bronchiectasis, and small airway disease were common in patients with elevated SCC.
  • Clinically relevant CFTR variants were identified in 29% of patients with elevated SCC.

Conclusions:

  • CFTR dysfunction is associated with specific clinical features in NTM-PD patients.
  • These findings suggest a potential role for CFTR dysfunction in the pathogenesis of NTM-PD.
  • Further molecular and functional studies are needed to confirm the link between CFTR dysfunction and NTM-PD.
Keywords:
CFTR dysfunctionCFTR genotypingNontuberculous mycobacterial pulmonary diseaseSweat chloride concentration

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