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https://doi.org/10.14300/mnnc.2020.15041

Course of the disease with evaluation of the chloride channel function and selection of target therapy in vitro in an adult with cystic fibrosis with 2184insA/L138ins genotype

[Cystic fibrosis]
Julia Leonidovna Melyanovskaya; Stanislav Aleksandrovich Krasovsky; Anna Sergeevna Efremova; Natalya Vadimovna Bulatenko; Marina Alekseevna Makarova;

The article presents a clinical case of a patient with the genotype 2184insA/L138ins c.[2052dupA];[413_415dupTAC] and describes the course of the disease. The patient underwent intestinal current measurement (ICM) studies and a forskolin test on intestinal organoids using biopsy material of the rectum. The results of the study confirm the «mildness» of the genetic variant of L138ins, which is fully consistent with the clinical and functional assessment of pancreatic function: the absence of a picture of pancreatic insufficiency both in childhood and adulthood, with normal rates of fecal elastase. Although it was shown by the method of intestinal organoids that the genotype 2184insA/L138ins leads to a significant decrease in the functional activity of the CFTR protein, despite the presence of a pathogenic variant of class IV in the genotype.

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References:
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Keywords: сystic fibrosis, genetic variants, CFTR gene, intestinal current measurement, CFTR protein, intestinal organoids, forskolin test, corrector VX-809, potentiator VX-770