Turkish Thoracic Journal
Original Article

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

1.

Division of Pediatric Pulmonology, Akdeniz University School of Medicine, Antalya, Turkey

2.

Department of Pediatrics, Akdeniz University School of Medicine, Antalya, Turkey

3.

Department of Pediatrics, Division of Allergy Immunology, Faculty of Medicine, Akdeniz University, Antalya, Turkey

4.

Department of Medical Biology and Genetics, Akdeniz University, Faculty of Medicine, Antalya, Turkey

5.

Department of Pediatrics, Akdeniz University, Faculty of Medicine, Antalya, Turkey

Turk Thorac J 2021; 22: 426-431
DOI: 10.5152/TurkThoracJ.2021.20282
Read: 217 Downloads: 58 Published: 28 October 2021

OBJECTIVE: To compare class I/II cystic fibrosis transmembrane conductance regulator (CFTR) mutations to class III-V mutations with regards to cystic fibrosis disease severity markers in children.

MATERIAL AND METHODS: This study was designed as a cross-sectional study in Antalya province, located on the south coast of Turkey. The study included 38 cystic fibrosis patients aged between 0.6 and 18 years. The CFTR genotype of the patients was categorized into 2 groups based on the presence or absence of class I or class II mutations in any of the alleles. Group I comprised 8 homozygous, 8 with
unknown alleles, and 8 compound heterozygous patients, and group II comprised 11 homozygous and 3 compound heterozygous patients. The groups were analyzed in respect of cystic fibrosis disease severity markers, such as spirometry, ShwachmanKulczycki score, body mass index (BMI), sweat chloride concentration, chronic Pseudomonas aeruginosa infection, annual exacerbation frequency, and severe exacerbations requiring hospitalization during the previous year.

RESULTS: In the comparison of group I and group II patients, a significant difference was observed in pancreas insufficiency (83.3% vs. 35.7%; P = .005), chronic P. aeruginosa infection (58.3% vs. 7.1%; P = .002), cough severity score (1.7 ± 1.1 vs. 0.9 ± 1.5; P = .029), number of severe exacerbations requiring hospitalization during the previous year (0.9 ± 1 vs. 0.3 ± 0.8; P = .03), and sweat chloride levels (76.7 ± 15.2 vs. 61 ± 22.3; P = .02). All these values were higher in group I patients. The mean BMI values (15.8 ± 2.2 vs. 17.6 ± 2.8; P = .03) were lower in group I patients.

CONCLUSION: There seems to be a difference between class I/II CFTR mutations and class III-V mutations on the severity of the disease in cystic fibrosis patients.

Cite this article as: Basaran AE, Basaran A, Kocacik Uygun FD, et al. Association between cystic fibrosis severity markers and CFTR genotypes in Turkish children. Turk Thorac J. 2021; 22(6): 426-431.

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