Assessment of abdominal symptoms and intestinal inflammation in children and adolescents with cystic fibrosis without highly effective modulator therapy

OBJECTIVE: Cystic fibrosis (CF) is a rare genetic disease caused by mutations in the CFTR gene, resulting in a dysfunctional protein that affects various systems in the body, including the gastrointestinal (GI) tract. The changes caused by CF in the GI tract include dysmotility, dysbiosis, intestinal inflammation, and abdominal symptoms such as pain, altered bowel habits, and distension, which are frequent in people with CF. This study aims to establish the prevalence of these complaints in children with CF and investigate associations between symptoms, clinical conditions, and markers of intestinal inflammation. METHODS: Twenty-two pediatric patients with a genetic diagnosis of CF, followed at a Brazilian reference center, were included. Methods involved a systematic assessment of gastrointestinal symptoms using a questionnaire, biochemical analysis of fecal calprotectin (FC) as a marker of intestinal inflammation, and collection of clinical, anthropometric, laboratory, and imaging data from medical records. RESULTS: 86.3% (n = 19) of participants showed elevated FC levels (> 50 gt; 50 mcg/g), indicating a high prevalence of intestinal inflammation. The most common abdominal symptoms were pain and flatulence, present in about half of the patients. No significant associations were observed between FC levels and clinical or symptomatic variables. CONCLUSION: There is a high prevalence of intestinal inflammation and abdominal symptoms in this sample of Brazilian children with CF, highlighting the importance of systematically investigating these symptoms.