Association Between Cystic Fibrosis Severity Markers and CFTR Genotypes in Turkish Children

Area of Science:

• Genetics
• Pediatrics
• Pulmonology

Background:

• Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene.
• CFTR mutations are classified into different classes based on their effect on protein function.
• Understanding genotype-phenotype correlations is crucial for predicting disease severity.

Purpose of the Study:

• To compare disease severity markers in pediatric cystic fibrosis patients with class I/II CFTR mutations versus those with class III-V CFTR mutations.
• To investigate the association between specific CFTR mutation classes and clinical outcomes in children.
• To identify potential differences in disease progression based on CFTR mutation type.

Main Methods:

• Cross-sectional study of 38 pediatric CF patients in Antalya, Turkey.
• Patients categorized into Group I (class I/II mutations) and Group II (class III-V mutations) based on CFTR genotype.
• Analysis of disease severity markers including spirometry, Shwachman-Kulczycki score, BMI, sweat chloride, P. aeruginosa infection, and exacerbation frequency.

Main Results:

• Group I patients exhibited significantly higher rates of pancreatic insufficiency (83.3% vs. 35.7%) and chronic P. aeruginosa infection (58.3% vs. 7.1%).
• Higher cough severity scores (1.7 vs. 0.9), more severe exacerbations requiring hospitalization (0.9 vs. 0.3), and elevated sweat chloride levels were observed in Group I.
• Group I patients had lower mean BMI values (15.8 vs. 17.6).

Conclusions:

• Class I/II CFTR mutations are associated with more severe cystic fibrosis phenotypes in children compared to class III-V mutations.
• Significant differences in pancreatic function, infection rates, and nutritional status were noted between the mutation groups.
• These findings highlight the importance of CFTR mutation class in predicting disease severity and guiding clinical management.