Evaluation of microbiologic findings in pediatric patients with cystic fibrosis

ABSTRACT Evaluation of Microbiologic Findings in Pediatric Patients with Cystic Fibrosis Aim: Cystic fibrosis (CF) is an autosomal recessive multisystemic genetic disorder that occurs due to a defect in the Cystic Fibrosis Transmembrane Regulator (CFTR) chloride channel in the epithelial cell membranes of sweat glands, respiratory, pancreatic, gastrointestinal, and genital systems. Although its incidence varies between populations, it is observed at a rate of approximately 1/3000-1/3500 in Turkey. This study aimed to evaluate the clinical processes, respiratory tract culture results, genetic and radiological imaging results, and prognoses of cases diagnosed with CF. Material and Methods: Ninety-six cases diagnosed with CF, who were followed between 2020 and 2023 by the Pediatric Allergy and Immunology and Pediatric Infectious Diseases Departments at Çukurova University Faculty of Medicine Balcalı Hospital, were included in this study. The demographic, genetic, radiological imaging, and microbiological data of these cases were retrospectively reviewed from the time of diagnosis. Findings: Fifty-one percent of the patients were female, and 49% were male. The median age of the patients was 95 (14-22) months. Consanguinity between parents was present in 44.8% of the cases, and 18.8% had a family history of CF. The rate of patients presenting due to a positive CF screening test result was 53.1% (51 patients). At the first presentation, 28.1% (27 patients) had a history of recurrent lung infections. According to CFTR gene mutations, 39.6% of the patients (38 patients) were homozygous, 49% (47 patients) were heterozygous, and 11.5% (11 patients) were compound heterozygous. When examining the distribution of comorbid conditions accompanying our patients, liver parenchymal disease was present in 6.2%, asthma in 5.2%, food allergies in 5.2%, and Allergic Bronchopulmonary Aspergillosis (ABPA) in 4.2%. A total of 50 patients were hospitalized for treatment in our study. The average hospital stay duration was 9.7±2.3 days, with the shortest being 2 days and the longest 19 days. The total number of hospitalizations averaged 3.3±1.8, with patients having at least 1 and at most 21 hospitalizations. Seasonal distribution of hospitalizations showed that 34% occurred in spring, 28% in summer, 24% in winter, and 14% in autumn. When examining the indications for hospitalization, lung infection was the most common reason at 36%, followed by oral intake disorder at 17%, and dehydration at 14%. Regarding radiological findings from thorax CT scans, the most frequent were bronchiectasis at 15.6%, consolidation at 9.4%, and atelectasis at 9.4%. In terms of supportive treatments, 86 patients (89.6%) used inhaled dornase alfa, 81 patients (84.4%) used multivitamins, 72 patients (75%) used pancreatic enzyme replacement therapy, and 44 patients (45.8%) used enteral feeding solutions. Evaluating the respiratory tract culture results, Staphylococcus was present in 59.7% of the patients, Pseudomonas in 45.8%, Enterobacter in 35.4%, Streptococcus in 29.2%, and Acinetobacter in 18.8%. Bordetella was detected at a minimum rate of 2.1%, and Candida at 3.1% Conclusion: Respiratory tract infections are considered the clinical condition most frequently responsible for morbidity and mortality in CF cases. To reduce the morbidity and mortality of the disease, it is necessary to develop follow-up and treatment methods such as early diagnosis, early treatment, early prophylaxis, and close monitoring. Keywords: Cystic Fibrosis, Cystic Fibrosis Transmembrane Regulator, Genetics, Allergic Bronchopulmonary Aspergillosis