Pulmonary-intestinal form of cystic fibrosis diagnosed in a child aged 7 years: a clinical case

A clinical case of a patient with a mixed form of cystic fibrosis with bronchopulmonary and gastrointestinal manifestations is presented. Despite the screening of newborns, as well as the active use of available diagnostic sweat tests and genetic analysis, the diagnosis cannot always be accurately confirmed, the problem of diagnosing cystic fibrosis both at the manifestation of the disease and at the subsequent stages of its development remains relevant.

Diagnosis of cystic fibrosis requires physicians to be alert to cystic fibrosis in pulmonary and intestinal disorders, to inform physicians of the diagnostic signs of cystic fibrosis, to adequately assess the clinical picture and internosological diagnosis, to be aware of possible false-negative and false-positive results when using a modern set of diagnostic tools. Diagnosis and treatment of cystic fibrosis are in the process of continuous improvement. Timely therapy, taking into account the origin of the syndrome, can significantly improve the patient's condition, increase the duration and quality of his life. Recent advances in the field of cystic fibrosis gene modification open up new avenues in the treatment of this disease.