Among the most common diseases caused by a gene mutation, cystic fibrosis of the lungs is at the top of the list. This pathology is associated with a violation of the consistency of the secret secreted by internal organs, which leads to the defeat of the respiratory system and the gastrointestinal tract.
Genetic disease of cystic fibrosis
The disease in question is also called cystic fibrosis. It is characterized by a high density and a strong viscosity of mucus, which covers the hollow organs. As a result of this process, secretion stagnates, and pathogenic bacteria that cause inflammation actively multiply.
Cystic fibrosis of the lung has a single cause - damage to the seventh chromosome (long arm). According to statistics, the carrier of this disease is every twentieth person on the planet. The probability of the disease is 25%, provided that both parents have a damaged gene.
There are 3 forms of this ailment:
- intestinal cystic fibrosis;
- pulmonary or respiratory cystic fibrosis;
- mixed type (pulmonary cystic fibrosis).
Cystic fibrosis of the lungs - symptoms
The main signs of the disease:
- excretion of viscous, thick sputum during coughing;
- frequent exacerbations of pneumonia, bronchitis, pneumonia;
- disruption of the intestine;
- dehydration;
- pain, discomfort in the stomach;
- increased appetite with insufficient weight and physical development;
- sexual disorders;
- pancreatitis ;
- thickening of fingers on hands;
- liver disease;
- diabetes;
- sinusitis ;
- fragility of bones;
- prolapse of the intestine (straight).
The pulmonary form of cystic fibrosis manifests itself in the first 2 years of life, it is characterized by a large amount of secretion in the middle and small bronchi of the child.
Cystic Fibrosis - Diagnosis and Analysis
The diagnosis is made with four main criteria.
First of all, the presence of the damaged gene in the parents and cases of the incidence in the family are checked. Positive results, as well as the detection of chronic inflammatory processes in the lungs and bronchi, the presence of intestinal syndrome, give grounds for conducting a sweat test. It consists in determining the level of salts in the fluid released by the pores. To perform the procedure, a small area on the arm (above the elbow) is treated with a special drug called pilocarpine. An electrode is attached to this zone, provoking the release of sweat, which is isolated by plastic or heat-retaining tissue, creating the effect of the sauna. After about 40 minutes, the produced liquid is subjected to salt analysis. If its level exceeds the established limits, a final diagnosis is made.
Cystic fibrosis of the lung - treatment
The nature of the disease does not allow to cure it completely, the therapy is aimed at systematic elimination of symptoms and requires an integrated approach. Treatment consists of the following activities:
- long courses of antibiotics;
- reception mucolytics;
- kinesitherapy;
- Inhalation of corticosteroid hormones and beta mimetics;
- use of bronchodilator;
- performing respiratory exercises;
- correction of the diet with an increase in daily allowance by 10-15%;
- autogenous lung drainage;
- bug-massage;
- reception of vitamins and microelements.
Radical and most effective at the moment the method of treatment is lung transplantation. In addition, medical research is constantly being conducted to correct the most damaged gene through artificially created viruses.