Pancreatitis in children with cystic fibrosis and preserved pancreatic exocrine function

Abstract

The pancreas is one of the main organs affected by the dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Pancreatitis can be a symptom of cystic fibrosis (CF) or a CFTR-related disorder. Genetic variants of the CFTR gene causing CF or having varying clinical significance are observed in 32–48% of patients. Approximately 20% of patients with mild genotypes are expected to develop pancreatitis. We report three cases of pancreatitis in children with CF and preserved pancreatic function. We focus on the challenges associated with the assessment of pancreatic insufficiency grade, suffering of children with recurrent acute and chronic pancreatitis, difficulties associated with the diagnosis and interpretation of laboratory parameters, problems of prognosis of pancreatitis development and progression in patients with pathogenic variants of the CFTR gene. Patients with mild pathogenic variants of the CFTR gene can have their pancreatic elastase-1 level reduced over time, which necessitates its annual monitoring. Patients with mild pathogenic variants should be routinely tested for pancreatic amylase, lipase, and diastase; and undergo examination using visualization methods. All CF patients require complete genotype verification to identify those with a mild genotype. Patients with recurrent pancreatitis should be checked for heterozygous pathogenic variants of the CFTR gene or CF verification. Key words: CFTR gene, cystic fibrosis, mild genotype, pancreas, pancreatitis, pancreatic elastase