Clinical, laboratory, genetic, and prognosis evaluation of patients with cystic fibrosis with gastrointestinal system involvement

ABSTRACT Clınıcal, Laboratory, Genetıc, And Prognosıs Evaluatıon Of Cystıc Fıbrosıs Cases Wıth Gastroıntestınal System Involvement Purpose: Cystic fibrosis is a chronic, multisystemic disease with autosomal recessive inheritance that occurs as a result of the defect of the CFTR channel, which is located in the gastrointestinal tract, respiratory system, sinuses, sweat glands and urogenital system mucous glands and provides chloride passage. In this study, it was aimed to evaluate the clinical processes, anthropometric values, laboratory, genetic and radiological imaging results and prognoses of CF patients with GIS involvement. Materials and Methods: 97 cases of CF with GIS involvement followed in Çukurova University Medical Faculty Balcalı Hospital Pediatric Gastroenterology Department between 2011 and 2022 were included in this study. Demographic, anthropometric, laboratory, genetic and radiological imaging data of these cases were analyzed retrospectively from the time of diagnosis. Findings: 55.7% of the cases were female and 44.3% were male. The mean age at diagnosis of CF was 18.1±33.7 months, while the age at diagnosis of GIS involvement was 21.4±32.3 months. There was consanguinity between the parents in 55.6% of the cases, and there was a family history of CF in 16.5%. The most common initial findings of the cases were lung infection (61.9%) and inability to gain weight (20.6%). There was a history of hospitalization in 77.3% of the cases. The most common reasons for hospitalization are; lung infection (55.7%), dehydration (25.8%) and oral intake disorder (23.7%). F508del (14.4%) was the most common variant in the genetic analysis of the cases. In the 5-year follow-up from the diagnosis, a significant difference was found in the weight-height percentile and SD scores, which are among the anthropometric values of the cases (p<0.05), but no significant difference was found in the BMI percentile and SD scores (p>0.05). When the degree of malnutrition was examined, it was determined that they caught the normal range for Gomez (>90%) and Waterlow (>95%) classifications in the first year. In terms of GIS involvement in cases; pancreatic failure (75.3%), growth retardation (64.9%), constipation (30.9%), GERD (14.4%), hepatosteatosis (4.1%), pancreatitis (4.1%), Rectal prolapse (1%) and meconium ileus (1%) were detected. Abdominal USG was performed in 78 of the cases and 50.5% of them were normal, 14.4% had hepatic parenchymal heterogeneity and 12.4% hepatomegaly. The most common finding in HRCT imaging of the cases was bronchiectasis. In the clinical follow-ups, gallstones were observed in 4.1% of the cases and pancreatitis attack was observed in 6.2% of the cases. It was determined that 95.9% of the patients received dornoz alfa, 94.8% pancreatic enzyme, 74.2% multivitamin 57.7% DEKAs, 41.2% enteral product, 25.8% PPI and 3.1% of them used ursodeoxycholic acid. Conclusions: Cystic fibrosis is a disease with multisystemic involvement with hig mortality and morbidity. The age of diagnosis is gradually decreasing with its entry into thescreening program. In our study, the median age at diagnosis was 5 months. The most common genetic mutation was F508del. The most common GISinvolvement in the cases was pancreatic insufficiency. The pancreatic enzyme utilization rate was 94.8%. While height-weight percentile and SD scores from anthropometric measurements showed a significant difference over time, no difference was found in BMI. In this case, with early diagnosis, adequate medication and nutritional support, there are significant positive changes in the weight and height percentiles of patients with CF. We think that no significant increase was observed in the body mass index of the patients since height and weight increase are together. There was no one who died in the follow-up cases, but the prognosis of the cases who left the follow-up was unknown. Keywords: Cystic fibrosis, Clinic, Laboratory, Gastrointestinal system, Genetics, Childhood