Investigation of clinical laboratory and demographic characteristics of patients followed up in Dicle University cystic fibrosis center between 2010-2020

Introduction and Aim: Cystic Fibrosis is a disease that develops as a result of mutations in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene, which encodes a protein that functions as a transmembrane ion channel in many organ epithelium, showing autosomal recessive inheritance. In our study; To determine the complications that occur during the follow-up period of the patient group covering the childhood and adult age periods, the clinical characteristics of the patients and the conditions that affect the course of the disease, to reveal the interrelated factors more clearly, to have information about the long-term characteristics of the disease and to produce solutions to increase the quality of life of the patients intended. Material–method: In our study, the demographic characteristics, laboratory and clinical findings of 150 CF patients who were followed up and treated in Dicle University Faculty of Medicine, Department of Pediatrics, Pediatric Chest Diseases Outpatient Clinic were retrospectively analyzed. Cases that met the diagnostic criteria by considering mutation analysis and sweat test results and whose demographic information, clinical features and laboratory results were recorded regularly and adequately were included in the study. Results: 78 (52%) of our patients were male and 72 (48%) were female. When the age of diagnosis was examined, it was seen that 75.3% of the patients were diagnosed within the first year. The mean age at diagnosis is 22.3 months. It was determined that 41 (27.3%) of the patients had P.aeruginosa growth at least once, and 64 (42.7%) had at least one S.aureus growth. The most common reasons for admission were found to be frequent lung infections and diarrhea-vomiting after newborn screening. When the mutation analyzes of the cases were examined, it was observed that the most common mutation was the 3130delA/3130delA homozygous mutation with a rate of 8.7%. Then, deltaF508/deltaF508 was the second most common with a rate of 5.5%. It was observed that patients with the 3130delA mutation had a higher risk of nutritional status than patients without this mutation, which was statistically significant. When the degree of lung disease was examined according to the nutritional status of the patients and the FEV% values, it was observed that the nutritional status of 83.3% of the patients with severe lung disease was inadequate and this difference was statistically significant. It was determined that the FEV1% of cases with P.aeruginosa colonization were lower. It was observed that patients with low vitamin D levels had statistically significantly lower FEV1% values than patients without low vitamin D levels. Considering the number of days of hospitalization in the last 1 year, it was observed that the number of days of hospitalization was significantly higher in those colonized with P.aeruginosa. Conclusion: In addition to early diagnosis of the patients, close follow-up of nutritional status and culture reproduction status and performing the necessary treatments will have a positive effect on the patients' quality of life and life expectancy. Keywords: Cystic fibrosis, nutritional status, colonization