Cystic fibrosis (CF) is a genetically determined chronic systemic disease, the effects of which are most evident in the respiratory and digestive systems. It is estimated that 2-5% of people in the adult population carry the defective gene on chromosome 7. The disease occurs when the cystic fibrosis gene is inherited from the father and mother. In Poland, about 2,000 people suffer from cystic fibrosis. Unfortunately, it is still an incurable disease, which significantly reduces the patient’s survival time.
In patients with cystic fibrosis, the secretory cells produce a thick and sticky mucus that lingers in many systems hampering their work. In the course of cystic fibrosis, the lungs, bronchi, gastrointestinal tract and the reproductive system are most affected and destroyed by pathological secretions.
Cystic fibrosis is an incurable and fatal disease. The life expectancy of patients with cystic fibrosis is currently around 30-40 years.
Life expectancy with cystic fibrosis
Most cystic fibrosis patients die from respiratory failure. The second most common cause of death is cirrhosis.
In some European countries, where treatment is much more advanced, life expectancy averages 50 years. The global median is 37-51 years.
In Poland, the average life expectancy of patients with cystic fibrosis is 35 years. Cystic fibrosis before age 22. by the age of one, half of the country’s patients die. However, there are patients who live to 40. one year old.
Causes of cystic fibrosis
Cystic fibrosis is the most common genetic disease in humans. It belongs to chronic, systemic and complex diseases-as it progresses, dysfunction of various internal organs occurs.
The cause of the disease is mutations in the CFTR gene, which result in the absence of a working CFTR protein. There are many varieties of the cystic fibrosis gene.
The body produces an excessively viscous mucus that causes disturbances in all organs that have mucus glands (mainly in the respiratory, digestive and reproductive systems). Cystic fibrosis is a systemic disease manifested primarily by chronic bronchopulmonary disease and enzymatic failure of the pancreas with subsequent digestive and absorption disorders. Sweat glands secrete sweat with high concentrations of chlorine and sodium (so-called “salt sweat”).
Symptoms of cystic fibrosis
Cystic fibrosis is most often found in childhood. Symptoms include m.in.:
- Cough-at first sporadic, only at night, then daily with expectoration of thick purulent discharge.
- Shortness of breath, rapid breathing, often with exertion.
- Chronic catarrh.
- Weight loss.
- Stinky and plentiful stools.
Symptoms of cystic fibrosis from the respiratory system (occur in more than 90 percent of patients):
- thick and sticky mucus that lingers in the bronchi and is a substrate for the development of bacteria;
- a troublesome cough, sometimes shortness of breath (the first symptoms may occur as early as infancy);
- recurrent bronchitis and pneumonia, not amenable to typical treatment, leading to bronchiolitis and fibrosis;
- chronic sinusitis with polyps (mainly in older children and adults);
- chronic infection with Pseudomonas aeruginosa (blue oil rod) and Staphylococcus aureus (Staphylococcus aureus);
- possible obstructive bronchitis.
Diagnosis of cystic fibrosis
In about 4 percent. patients with cystic fibrosis has a mild form and they are diagnosed after the age of 18. one year old.
The above symptoms should be an indication for a study in which the concentration of sodium chloride in the patient’s sweat (in a specialized laboratory) will be determined.
Increased concentration of chlorine and sodium in sweat (60-140 mmol/l) speaks for cystic fibrosis (the norm is 20-40 mmol/l for infants, 20-60 mmol/l for older children). Chloride level tests must be repeated 2-3 times. It is also advisable to carry out a genetic test.
Confirmation of the diagnosis of cystic fibrosis
- positive sweat test (Cl – >60 mmol / l) in at least two studies;
- detection of mutations in both CFTR alleles;
- high value of transbellum potential difference.
Treatment of cystic fibrosis
There is no effective treatment for cystic fibrosis. Treatments and medications only prolong life and hope that an effective drug will be discovered in the near future.
Treatment of respiratory symptoms consists in clearing the bronchi from purulent discharge. Treatment requires the administration of fluids and respiratory physiotherapy. Physiotherapy not only improves bronchial patency, but also reduces the severity of chronic inflammation, slowing the development of irreversible damage to the bronchi and lungs. Treatment with antibiotics is aimed at controlling bacterial infection of the bronchi and lungs. The use of complex treatment in combination with physiotherapy is intended to slow down irreversible bronchopulmonary changes.