Modern approach to the treatment of cystic fibrosis in children

Abstract

Cystic fibrosis is the most common monogenic pathology with an autosomal recessive type of inheritance. The frequency of carriers of the cystic fibrosis gene is 3-4%. The disease leads to damage to the respiratory system, pancreas, intestines, gallbladder, and liver, and can lead to electrolyte loss and the development of diabetes mellitus. In Ukraine, 250-300 children with cystic fibrosis are born every year. Their average life expectancy is 13-14 years. As of 2024, there are 16 children with cystic fibrosis in the Ternopil region.

Aim - to analyze and present clinical cases of cystic fibrosis in children, to investigate the features of the course and treatment of cystic fibrosis in children using the example of two clinical cases and to evaluate the effect of the three-component drug Tricaft (ivacaftor + tezacaftor + elexacaftor) on the course of the disease.

Literature search of scientific publications and study of inpatient charts of two patients who were inpatients in the gastroenterology department were conducted.

Clinical cases. The charts of inpatients and genetic confirmation of two patients diagnosed with cystic fibrosis were studied. In the first case, a boy, 12 years old, is treated annually on an outpatient and inpatient basis. It is known that the first patient was treated with the three-component drug Tricaft with the active ingredient elexacaftor, tezacaftor and ivacaftor. The second case is a boy, 16 years old, who did not receive the three-component drug in his treatment. In both cases, a comparative analysis of clinical manifestations was carried out and the course of the disease was assessed.

Conclusions. In children with cystic fibrosis with pancreatic insufficiency, in parallel with the intestinal tract damage, damage to the bronchopulmonary system is noted with varying degrees of severity of functional and clinical manifestations.

Clinical manifestations and complications from the side of the systems of lesions in cystic fibrosis worsen with age.

Taking drugs that moderate the CFTR receptor reduce the severity of clinical symptoms from the side of the bronchopulmonary system in children with cystic fibrosis, which is manifested in violations of the lowest degree of severity of the functions of the cardiovascular and bronchopulmonary systems.

The study was carried out in accordance with the principles of the Declaration of Helsinki. The informed consent of the children's parents was obtained for the research.

No conflict of interests was declared by the authors.