Abstract
Clinical manifestations of cystic fibrosis depend on the patient’s genotype since there are more than 2,000 variants of the CFTR gene. Main complications of the disease are expressed in a reduction or loss of pancreatic function and bacterial lung infection, leading to respiratory failure. The E92K (p.(Glu92Lys) and 4428insGA (p.(Ser1435Glyfs*14) mutations in the CFTR gene are accompanied by a high frequency of preserved pancreatic function. In a 3-year-old patient with recurrent pancreatitis and E92K/4428insGA genotype, the functional activity of the CFTR channel was studied using the intestinal current measurement method on rectal biopsy specimens and the forskolin-induced swelling assay in intestinal organoids. The personalized assessment of the action of CFTR modulators was also performed on organoid cultures obtained from the patient’s intestinal biopsies. In a 3-year-old child with cystic fibrosis and recurrent pancreatitis with frequent exacerbations, a high preservation of residual CFTR channel function was revealed. All the investigated targeted drugs were effective in increasing the functional activity of the CFTR chloride channel. Key words: cystic fibrosis, CFTR gene, targeted therapy, pancreatitis, intestinal organoids, intestinal current measurement, E92K, 4428insGA
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