Examination of Cases Who Had Molecular Testing with the Presumptive Diagnosis of Cystic Fibrosis: Experience of a Single Center

Objective: Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene, leading to multisystem involvement. Early diagnosis is crucial for managing complications and improving patient prognosis. This study aimed to evaluate the clinical and demographic characteristics and molecular analysis results of patients who underwent CFTR gene mutation analysis with a preliminary diagnosis of CF. Materials and Methods: A total of 34 patients were included in the study. Clinical and demographic data, along with genetic analysis results, were retrospectively examined. The frequency of symptoms associated with CF was determined, and the relationship between genetic findings and clinical manifestations was analyzed. Results: The most common reason for admission was respiratory symptoms, accounting for 64.7% of cases, followed by gastrointestinal complaints and malnutrition. Malnutrition was found to be significantly associated with a positive CFTR gene mutation (p=0.027). The risk of detecting a CFTR gene mutation was 5.667 times higher in patients with malnutrition. Conclusions: This study highlights the necessity of considering CF in the differential diagnosis of children presenting with recurrent respiratory tract infections and malnutrition, even in the absence of a positive family history. While respiratory symptoms were the most common reason for admission, malnutrition was found to be significantly more prevalent among mutation-positive cases. These findings underscore the importance of supporting careful clinical evaluation with genetic analysis in the diagnostic process of CF. Further large-scale, multicenter studies are needed to confirm and expand upon these results.