Diagnosis and treatment of cystic fibrosis in the practice of a family doctor

The paper examines the etiology, pathogenesis, clinical manifestations, and diagnosis of cystic fibrosis, a disease caused by pathogenic variants of the CFTR gene (cystic fibrosis transmembrane conductance regulator). Cystic fibrosis is a multisystem disease that most often affects the respiratory system, pancreas, gastrointestinal tract, reproductive system, and electrolyte imbalance. The sweat test is used to confirm the diagnosis of cystic fibrosis. Treatment includes the use of antibacterial, mucolytic, and bronchodilator drugs in combination with enzyme therapy and kinesitherapy.