Why does the disease occur?
The disease is associated with changes in the gene encoding a protein channel for chloride ions on the surface of cells. When the channel does not work, the secretions lose water and become viscous. A child becomes ill only if he received the altered gene from both parents; The parents themselves are healthy and are carriers. The probability of having a sick child in a pair of carriers is the same during each pregnancy. That is why families who already have a sick child are advised to consult a geneticist when planning their next pregnancy.
- Changes in the chlorine channel protein gene
- The secretions of the glands become thick
- Inheritance from both carrier parents
- Carrier parents are healthy
- Family genetics consultation needed
How it manifests itself
The classic picture consists of damage to the respiratory and digestive systems. On the part of the lungs, this is a constant cough with thick sputum, repeated bronchitis and pneumonia, wheezing, and over time - the formation of bronchiectasis and shortness of breath. From the intestines - copious, fatty, foul-smelling stools, bloating, abdominal pain, poor weight and height gain with preserved or even increased appetite. Parents often note the salty taste of their child's skin when kissing - this is a direct consequence of salt loss through sweat. In newborns, the first manifestation is delayed passage of meconium.
- Persistent cough with thick sputum
- Repeated pneumonia and bronchitis
- Copious, fatty, foul-smelling stools
- Poor weight gain with good appetite
- Salty taste of skin
- Bloating, pain
- Nasal polyps and chronic sinusitis
- Delayed passage of meconium in a newborn
Diagnostics
The main method of confirmation is a sweat test, which determines the concentration of chlorides in sweat; in cystic fibrosis it is increased. The study is painless and can be performed at any age, but requires the correct technique, so it is carried out in specialized laboratories. The diagnosis is complemented by a genetic study that identifies specific gene changes, which is also important for the selection of modern therapy. The function of the pancreas is also assessed by fecal elastase and coprogram, the condition of the lungs by CT and spirometry, and sputum culture is regularly performed to control flora. In many countries, the disease is detected through neonatal screening.
- Sweat test for chlorides
- Genetic research
- Fecal elastase and coprogram
- CT scan of the chest
- Spirometry in children over 5–6 years of age
- Sputum culture with antibiogram
- Neonatal screening where it is available
Treatment
The treatment is lifelong and comprehensive, it is carried out by a team of specialists. The daily basis is cleansing of the bronchi: breathing exercises, special techniques and devices, inhalation of phlegm-thinning solutions, physical activity. In case of pancreatic insufficiency, enzymes are taken with every meal, selecting the dose according to the doctor; food should be high in calories, with sufficient amounts of protein, fat-soluble vitamins and salt, especially in the heat. Exacerbations are treated with antibiotics based on culture results, often intravenously. In recent years, drugs have emerged that target the defective protein itself; they are suitable for certain mutations, so genetic research is of practical importance.
- Daily bronchial drainage and breathing exercises
- Inhalations as prescribed by a specialist
- Enzyme preparations with every meal
- Calorie nutrition, vitamins, extra salt in the heat
- Antibiotics for exacerbations by culture
- Regular monitoring of lung function and weight
- Vaccination against influenza and pneumococcus
- Targeted therapy for suitable mutations
Living with illness
With regular treatment, children go to school, play sports, and get a profession. Physical activity is not only allowed, but useful: it helps cleanse the bronchi. It is important to follow infection safety rules - patients with cystic fibrosis are not recommended to have close contact with each other due to the exchange of resistant bacteria. The family needs support, including psychological support, and a clear schedule of procedures. With age, additional problems are possible: diabetes associated with cystic fibrosis, liver damage, decreased bone density, fertility issues, so monitoring continues with adult specialists.
- Daily procedure routine
- Regular physical activity
- Separate rules for infection safety
- Monitoring blood sugar and liver health
- Observation by adult specialists after transition
- Psychological support for family
- Family planning with the participation of a geneticist