Diagnosis: Cystic fibrosis

Cystic fibrosis (CF) is a hereditary (genetic) disorder with an incidence of approximately 1 in 3,000 live births. It is characterized by chronic damage to the airways and lungs, insufficient pancreatic secretion, a high salt content in sweat, and infertility in 98% of males. The underlying mechanism of the disease is an alteration of the physico‑chemical properties of mucus on mucosal surfaces. The thickened mucus disrupts normal organ function and is the cause of most clinical manifestations.

Diagnosis

Diagnosis is established by genetic testing based on suspicion arising from recurrent respiratory tract infections and the presence of gastrointestinal symptoms. Genetic diagnosis is not simple, as approximately 1,800 mutations are thought to be capable of causing CF. In Slovakia, testing is performed for the 30 most common mutations, which identifies about 85% of cases. Since 2009, newborn screening for CF has been performed in all newborns. Diagnosis in the neonatal period is very important because, although newborns may not yet show many symptoms, early care and preventive therapy improve prognosis and prolong and improve quality of life.

Treatment

Prevention minimizes disease progression; therefore, it is important to prevent dangerous infections and bacterial transmission by adherence to recommended hygienic standards by patients, strict hygienic‑epidemiological measures in healthcare facilities, and effective vaccination (e.g., routine childhood vaccinations, hepatitis vaccination, influenza virus, Haemophilus influenzae, Streptococcus pneumoniae; a vaccine against Pseudomonas aeruginosa is currently under investigation).

Rehabilitation is one of the first steps in treatment and is divided into techniques facilitating bronchial clearance and conditioning exercises. Removal of purulent secretions from the airways reduces bronchial obstruction and airway resistance, improves functional parameters, and eliminates bacterial growth conditions. Simple devices such as Flutter, R‑C Cornet, Acapella, PEP mask, or more technically advanced devices such as The Vest can be used to support airway clearance. Appropriate conditioning exercises improve cardiorespiratory fitness, respiratory muscle endurance, reduce the sensation of dyspnea, enhance mucociliary clearance of sputum, and increase muscle mass and strength.

It has been clearly demonstrated that regular daily conditioning exercise prolongs life, improves quality of life, and enhances lung function parameters in CF patients.

Medications

Bronchodilators improve lung function in CF patients and may reduce the frequency of antibiotic therapy. Their administration prior to physiotherapy is particularly important, as they improve mucociliary clearance of the airways.

Mucolytics are an essential group of medications facilitating clearance of thick, viscous mucus from the airways. A breakthrough mucolytic is inhaled recombinant human DNase (dornase alfa – Pulmozyme). Other effective mucolytics include hypertonic sodium chloride solution, N‑acetylcysteine (Solmucol, ACC), and the newest inhaled agent mannitol (Bronchitol).

Immunomodulatory and anti‑inflammatory drugs play a major role in suppressing chronic inflammation, which is the most serious cause of airway destruction in CF. This group includes macrolides, corticosteroids, and non‑steroidal anti‑inflammatory drugs (e.g., ibuprofen). Their disadvantage is the potential risk of adverse effects with long‑term use.

Antibiotics are an indispensable part of CF treatment. The route of administration depends on the cultured pathogen, and selection is guided by antibiotic sensitivity testing or confirmed synergistic effects of selected agents.

Oxygen therapy may be administered temporarily during clinical deterioration or when arterial oxygen saturation decreases. If saturation does not normalize, the patient should be placed on long‑term home oxygen therapy for at least 16 hours per day.

Lung transplantation is the last therapeutic option for severe pulmonary damage in CF. Patients are indicated for transplantation if specific criteria are met, such as FEV₁ below 30%, massive hemoptysis, rapid progression of respiratory insufficiency, increased frequency of hospitalizations, and exceeding defined O₂ and CO₂ thresholds. A key prerequisite for successful transplantation and post‑transplant course is good physical condition of the patient.

Hope for the future in CF treatment lies in gene therapy, with ongoing efforts to deliver a corrected CFTR gene into cells. This approach could eliminate the disease and its manifestations.

The disease is treatable but not curable. Atypical forms may be monosymptomatic (only partially expressed). Therapy is symptomatic, and frequent treatment of complications is required. Prognosis has improved with modern therapy; however, only about 50% of patients reach 35 years of age. Children are monitored in CF centers and are typically hospitalized three times a year for antibiotic treatment. All infections are managed at CF centers.

Gastrointestinal tract: Adequate nutritional intake is essential—20–40% higher than in healthy peers. Due to a deficiency of digestive enzymes, enzyme replacement therapy in tablet form is required.

Cystic fibrosis

General

Diagnosis

Treatment

Medications

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