Targeted therapy for cystic fibrosis in a 15-year-old patient (clinical case)

Abstract

Cystic fibrosis is a genetic disease with a wide range of clinical manifestations, in some cases accompanied by severe complications. In recent years, a significant increase in the number of adolescent patients with cystic fibrosis has been observed, which indicates an increase in life expectancy among children with this diagnosis. Previously, therapy for this disease was mainly based on the management of symptoms and was not always successful. At present, medications have become available that allow correction of defective protein structures involved in the pathological process of the disease. The article examines the current strategy of targeted therapy for this hereditary disorder, which involves the use of modern drugs aimed at restoring the structure and function of the abnormal CFTR protein by compensating for its defective structure. Using a clinical case of a child who has suffered from cystic fibrosis since birth over a 15-year period, the absence of an effect from a combined two-component drug is demonstrated. Despite favorable prognostic data, the therapy did not produce the expected effect, which may indicate its late initiation, as well as the presence of an already decompensated state in a number of organs and systems involved in the pathological process. This should be taken into account when using targeted therapy in patients with this pathology. As a rule, early and timely initiation of treatment yields good results, helps prolong the patient’s life, prevents a number of life-threatening conditions, and generally improves the quality of life of such patients.