Cystic fibrosis is a genetic pathology that is transmitted according to the autosomal recessive type. Disruption of the secretion of endocrine glands and the functioning of vital organs is characteristic of the disease. The respiratory and digestive systems are mainly affected.
The increased viscosity of the secretion of the exocrine glands leads to a chronic inflammatory process in the lungs, exocrine insufficiency of the pancreas, hepatobiliary pathology and an abnormally high content of electrolytes in sweat. The diagnosis is made on the basis of sweat test data or the identification of 2 variants of the cystic fibrosis-causing gene in patients with a positive result of neonatal screening tests or characteristic clinical signs. Treatment is supportive with aggressive multidisciplinary care along with small molecule correctors and potentiating agents targeting the transmembrane conductance regulation of the defective protein.
Symptoms of cystic fibrosis depend on the form of the disease.
Signs of the pulmonary form of cystic fibrosis:
This option is the most common form of the disease. In 70% of cases, the disease is diagnosed in the first two years of a child’s life. Parents note pallor of the skin, lethargy, weakness and apathy. This is with insufficient enrichment of the blood with oxygen.
The child suffers from frequent respiratory diseases, which is the reason for seeking medical help. There is a frequent wet paroxysmal cough with sputum that is poorly separated. During auscultation, the doctor listens for large-bubble rales over the entire surface of the lungs. The severity of respiratory failure depends on the level of lung tissue damage. With increasing respiratory failure, cyanosis or bluish skin appears. With the development of cardiovascular insufficiency, swelling of the legs is observed, blood pressure rises.
Signs of the intestinal form of cystic fibrosis:
Three factors influence the formation of symptoms of the intestinal form of cystic fibrosis.
In the initial stages of the disease, the production of mucus by the exocrine glands of the intestine decreases, as a result of which the intestinal contents acquire a solid consistency. In addition, intestinal peristalsis is disturbed, which can lead to intestinal obstruction.
During the progression of the disease, a violation of the secretion of pancreatic enzymes develops. This is the second factor that forms the clinical picture of the intestinal form. In the duct of the pancreas, the viscosity of the secretion increases, which impairs the outflow of enzymes. Eventually, the enzymes begin to act on the parenchyma of the gland. This is how acute pancreatitis develops, and later pancreonecrosis.
The third factor, the effect of which increases the clinical picture of the intestinal form, is a violation of the outflow of bile, which emulsifies fats and participates in digestion processes. When the outflow of bile is disturbed, its stagnation occurs. This leads to the formation of stones in the gallbladder or ducts. Later, liver failure and cirrhosis develop.
To establish a diagnosis, molecular genetic testing is performed to determine the gene mutation.
Without the possibility of conducting the test, the diagnostic criterion is an increase in the level of chlorine ions in the sweat glands of more than 60 mmol/l in combination with chronic pathology of the respiratory tract, pancreatic insufficiency or the presence of the disease in close relatives.
In order to assess the general state of the body, a comprehensive examination is performed.
Laboratory tests:
Instrumental research methods:
The doctor can prescribe additional research methods that are designed for differential diagnosis with other diseases.