Retrospective evaluation of gastrointestinal system attitudes of cystic fibrosis patients followed in our center

Cystic fibrosis (CF) is a disease that shows autosomal recessive transition, resulting from a defect in the chlorine channel called Cystic Fibrosis Transmembrane Regulator (CFTR), affecting exocrine glands in all systems. Depending on the type of genetic mutation, the symptoms of the cases, the onset time of the complaints, and the clinical findings vary. In CF patients, gastrointestinal, respiratory, endocrine, hematological and urogenital system effects are seen. In our study, the demographic features of the patients, system interactions, findings in diagnosis and follow-up, and mutation relationships and especially gastrointestinal tract effects were emphasized. The genetic, clinical, laboratory and radiological findings of 114 patients who were followed up in the Pediatric Gastroenterology Outpatient Clinic with the diagnosis of CF were retrospectively evaluated. The demographic characteristics, mutation analysis, biochemical parameters, system effects and mutation relationship of the cases, diagnosis and follow-up findings and mutation relationship, radiological findings were investigated. The mean age of the patients was 11 years, 2 months, and 67 (59%) were boys and 47 (41%) were girls. The earliest diagnosis age was 5 days, and the latest diagnosis age was 17 years old. The average age of diagnosis was 23 months. Twentyfive of the cases (27.8%) had consanguineous marriage between their parents. Gastrointestinal in 96 (84.2%), respiratory in 87 (76.3%), endocrine in 12 (10.5%), hematological in 4 (3.5%) and 2 (%) 1.7) urinary tract involvement was observed. The most common complaints and symptoms in diagnosis are 26.7% not gaining weight, 24.4% vomiting, 15.1% lung infection, 14% meconium ileus, 14% recurrent lung infection, 10.5% metabolic alkalosis, 9.3% dehydration and electrolyte disturbance, 8.1% hypoalbuminemia, 7% growth retardation, 7% Neonatal Blood Sampling (increased IRT). Among the clinical findings, the most common findings were 58 patients with genetic mutation, and 46 (79.3%) had recurrent lung infections. 24 of them (41.4%) have F508 del mutation and 19 (61.3%) of F508del are homozygous. Of the 26 (44.8%) patients with growth and developmental retardation, 13 had F508 del mutations and 10 (32.3%) were F508 del heterozygotes. There was no significant difference between fecal elastase abortion and F508del mutation. There was a significant difference between fecal elastase and low albumin, GGT level, and F508del homozygous and hypocalcemia. In conclusion, multisystem evaluation, regular follow-up of patients diagnosed with cystic fibrosis are important. NBS IRT analysis is promising for the prevention of morbidity and mortality at the beginning of early diagnosis and treatment. More studies are needed on genetic mutation and system effects that are not yet clear. Keywords: Cystic Fibrosis, Gastrointestinal System involvements, Genetics.