Clinical and laboratory findings of patients with cystic fibrosis: a single center experience from Türkiye

Abstract

Objective: The objective of this study was to evaluate the clinical characteristics of patients with cystic fibrosis (CF) and to determine whether there is a relationship between nutritional status and pulmonary functions. Additionally, the study aimed to investigate the relationship between the CFTR genotype and the occurrence of cystic fibrosis-related diabetes (CFRD), as well as the impact of CFTR mutations on the severity of CF pulmonary disease. Material and Methods: The data of 300 CF patients were retrospectively analyzed. Clinical and laboratory characteristics were obtained from unit database. The patients’ growth indices and nutritional status were assessed based on age groups. Results: Among the 300 patients, 69.5% were diagnosed under age one year old. The earliest diagnosed patient was 2 days old, and the latest diagnosed patient was 31 years old. The most common presenting complaints were recurrent lung infections and gastrointestinal symptoms. Genotyping was performed in 241 patients (80.3%), and 16.6% of these were found to be homozygous for F508del. The allelic frequency of F508del was found to be 41.4%. Eighty-three patients (29.7%) were colonized with Pseudomonas aeruginosa, andthey were found to have more severe lung disease compared to non-colonized patients (p=0.004). We observed that 30% of the patients with CFRD and 12.7% of the non-diabetic patients had severely impaired pulmonary function (p=0.004). The patients who had F508del mutation in at least one allel were found to have a higher risk of developing diabetes compared to those who did not have (p=0.049). Conclusion: Pseudomonas aeruginosa colonisation and development of CFRD are associated with impairment in pulmonary functions in CF patients.

Keywords

• Cystic fibrosis
• Mutation
• Pulmonary function

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