Biochemical and genetic tools to predict the progression to Cystic Fibrosis in CRMS/CFSPID subjects: A systematic...

Area of Science:

• Pediatric Pulmonology
• Genetic Screening
• Newborn Screening

Background:

• Cystic Fibrosis Screening Positive, Inconclusive Diagnosis (CFSPID) represents a challenge in early detection.
• Identifying individuals at high risk for progression to cystic fibrosis (CF) is essential for timely intervention.

Purpose of the Study:

• To identify key risk factors associated with the progression of CFSPID to confirmed cystic fibrosis (CF).

Main Methods:

• A systematic literature review (2015-2023) assessed various parameters in CFSPID individuals who progressed to CF.
• Evaluated factors included blood immunoreactive trypsinogen (b-IRT), CFTR genotype, sweat chloride (SC) values, Pseudomonas aeruginosa (Pa) isolation, and Lung Clearance Index (LCI).

Main Results:

• Progression from CFSPID to CF occurred in 5.3% to 44% of cases.
• Risk factors identified include: CFTR variant with variable clinical consequences (VVCC) genotype, initial SC ≥ 40 mmol/L, SC increase > 2.5 mmol/L/year, and recurrent Pa airway isolation.

Conclusions:

• CFSPID individuals with CF-causing/VVCC genotypes and higher borderline initial SC values warrant closer, extended clinical monitoring.
• Early identification of these risk factors enables proactive management strategies for CF progression.