[New tools in cystic fibrosis]

Area of Science:

• Medical Diagnostics
• Pulmonology
• Biotechnology

Background:

• Cystic fibrosis (CF) diagnosis and treatment require sensitive and personalized approaches.
• Early detection of functional impairment is crucial for timely intervention in CF patients.
• Current diagnostic and therapeutic strategies can be advanced through novel technologies.

Purpose of the Study:

• To describe three innovative tools for cystic fibrosis diagnosis and treatment.
• To highlight the capabilities of the lung clearance index, advanced MRI, and organoids in CF care.
• To discuss the potential impact and future generalization of these novel methods.

Main Methods:

• Lung clearance index (LCI) as a sensitive measure for early functional impairment detection in infants.
• Advanced magnetic resonance imaging (MRI) sequences for non-invasive, radiation-free morphological and functional lung analysis, including perfusion, diffusion, ventilation, and inflammation.
• Organoid technology for personalized medicine, assessing CFTR function and treatment response across numerous CFTR mutations.

Main Results:

• LCI can detect functional impairment within months of birth.
• Advanced MRI allows detailed morphological analysis and functional assessment of lungs and other organs (sinuses, liver, abdomen) without contrast or radiation.
• Organoids provide a platform for personalized medicine, evaluating treatment efficacy for specific CFTR mutations.

Conclusions:

• These novel tools offer significant advancements in cystic fibrosis diagnosis and treatment.
• The described methods, including LCI, advanced MRI, and organoids, promise more precise and personalized CF care.
• While currently limited to research settings, standardization is expected to facilitate broader clinical application in the near future.