Effect of CFTR modulators on the course of recurrent pancreatitis in a child with cystic fibrosis
https://doi.org/10.66825/2949-4664-apps-3-4-54-58
Abstract
Recurrent pancreatitis in patients with cystic fibrosis (CF) can develop in the presence of mild pathogenic variants of the CFTR gene. In this article, we report a clinical case of a 6‑year-old child with recurrent pancreatitis in the setting of CF with the F508del/ 3849+10kbC>T. A pronounced positive dynamics after the CFTR modulator therapy with elexacaftor + tezacaftor + ivacaftor + ivacaftor was observed. Following the onset of therapy, the child demonstrated an improvement in appetite, the disappearance of abdominal pain, and normalization of blood amylase and lipase levels. Targeted CFTR modulator therapy that restores the defective protein function is effective not only for pulmonary manifestations of the disease, but also in relation to pancreatitis in the case of mild CF phenotype.
About the Authors
A. P. Gudkova
Research Centre for Medical Genetic; National Medical Research Center for Children’s Health, Ministry of Health of Russia
Russian Federation
Competing Interests:
Russian Federation
Anastasia P. Gudkova, 2nd-year resident in Genetics, employee in the Medical Genomics Laboratory, National Medical Research Center for Children’s Health, Ministry of Health of the Russian Federation
Moskvorechye str., Moscow 115522;
Build. 1, 2, Lomonosovskiy prospekt, Moscow 119991
Competing Interests:
The authors declare no conflict of interest.
N. V. Moryakova
Research Centre for Medical Genetic
Russian Federation
Competing Interests:
Russian Federation
Natalia V. Moryakova, 2nd-year resident in Genetics
Moskvorechye str., Moscow 115522
Competing Interests:
The authors declare no conflict of interest.
V. V. Shadrina
Research Centre for Medical Genetic; Research Clinical Institute of Childhood of the Moscow Region
Russian Federation
Competing Interests:
Russian Federation
Vera V. Shadrina, Cand. Sci. (Med.), Head of the Department of Hereditary and Metabolic Diseases, Leading Researcher, Cystic Fibrosis Clinical Department
Moskvorechye str., Moscow 115522;
build. 1, 24a, Kominterna str., Moscow region, Mytishchi, 141009
Competing Interests:
The authors declare no conflict of interest.
E. I. Kondratyeva
Research Centre for Medical Genetic; Research Clinical Institute of Childhood of the Moscow Region
Russian Federation
Competing Interests:
Russian Federation
Elena I. Kondratyeva, Dr. Sci. (Med.), Professor, Head of the Cystic Fibrosis Research and Clinical Department, Head of the Department of Respiratory Disease Genetics, Deputy Director for Research
Moskvorechye str., Moscow 115522;
build. 1, 24a, Kominterna str., Moscow region, Mytishchi, 141009
Competing Interests:
The authors declare no conflict of interest.
References
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Review
For citations:
Gudkova A.P., Moryakova N.V., Shadrina V.V., Kondratyeva E.I. Effect of CFTR modulators on the course of recurrent pancreatitis in a child with cystic fibrosis. Archives of Pediatrics and Pediatric Surgery. 2025;3(4):54-58. (In Russ.) https://doi.org/10.66825/2949-4664-apps-3-4-54-58
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