Cystic fibrosis, which is also called cystic fibrosis, is a systemic hereditary disease, the cause of which is the mutation of the gene of the transmembrane regulator of cystic fibrosis. In this disease, the glands of external secretion are affected, serious violations occur in the activity of the respiratory and gastrointestinal tract.
This is the most common hereditary disease. and out of twenty people one is the carrier of a defective gene. If both parents are carriers of this genetic pathology, the probability of producing a sick child is 25%.
With this disease, secrets, various organs give off an overly viscous secret. The consequence of this are diseases of the pancreas, bronchopulmonary system, liver, sweat and salivary, genital and intestinal glands.
Symptoms of cystic fibrosis
In particular, the lungs due to accumulating viscous sputum affect the inflammatory processes in which the blood supply and ventilation of the lungs are disturbed. A constant symptom of the disease is a painful cough.
Lungs are easily exposed to infection, mainly Pseudomonas aeruginosa and Staphylococcus aureus. Develop pneumonia and bronchitis, which can be observed almost from the first months of life. The infection makes the phlegm even more viscous, which dramatically increases the level of danger to life.
Most sick children die just from respiratory failure. Lack of enzymes arises for the same reason and in the pancreas, so in patients with cystic fibrosis, food is improperly digested. At the same time, sick children, even with an excellent appetite, lag behind in weight. Stagnation of bile provokes cirrhosis of the liver in some children, as well as the appearance of stones in the gallbladder.
Manifestation of cystic fibrosis in children
Lungs in children with cystic fibrosis work only by a quarter, so they are constantly choking.
There is a pulmonary form and an intestinal form of cystic fibrosis, but the combination is mostly fixed, when the gastrointestinal tract and respiratory organs are affected together.
Patients do not suffer from mental retardation, they are not contagious. Children are successfully engaged, are engaged in creativity, study foreign languages. Having matured, they can create a full-fledged family and, if the second spouse is not affected by the defective gene, then full-fledged children. have healthy children.
Until now, completely cure this disease is not possible, but adequate treatment enables the patient to live a full and long life. It is important early diagnosis and treatment.
A patient with cystic fibrosis should, from the very appointment and throughout life, consume special drugs, sometimes in large doses. These drugs are mucolytics, which are able to destroy mucus and promote its separation. With food, you need to eat and get enzyme preparations, because, otherwise, food will simply not be absorbed. Prescribe and antibiotics to control respiratory infections and prevent exacerbations. When liver damage should be appointed and hepatoprotectors for liquefaction of bile and improve the activity of liver cells. Many drugs are administered by inhalers.
It is very important to master kinesitherapy. This is breathing exercises and a number of special exercises to remove sputum. Classes begin in early childhood and continue until the very end. For these exercises, the child needs a ball and a number of other devices. Serious exacerbations of cystic fibrosis require the use of an oxygen concentrator.