Cystic fibrosis - what is this disease: causes, symptoms, treatment

Cystic fibrosis - what is this disease: causes, symptoms, treatment

Cystic fibrosis is a genetic pathology transmitted in an autosomal recessive manner. The disease is characterized by a violation of the secretion of exocrine glands and the functioning of vital organs. The respiratory and digestive systems are mainly involved in the pathological process.

Mutation of the gene disrupts the protein structure, thickens the secret of most exocrine glands, makes it difficult to evacuate, and this causes pronounced secondary changes in the respiratory organs. A chronic inflammatory process develops in the bronchi, sputum becomes thick and viscous, stagnates.

The disease is manifested by various clinical symptoms.

  • In newborns, cystic fibrosis may manifest as meconium ileus with the development of intestinal obstruction.
  • In children 1-2 years old: cough; cyanosis; separation of thick sputum; shortness of breath.
  • In children aged 5-15 years, the disease is often manifested by intestinal colic. Complaints of bloating, paroxysmal abdominal pain, repeated vomiting.
  • In adults: painful paroxysmal cough; secretion of viscous mucous-purulent sputum; dyspnea; sneezing, discharge from the nose; weakness, reduced working capacity; paleness of the skin; cyanosis of mucous membranes.

Such patients have chronic obstructive bronchitis, frequent pneumonia, bronchiectasis, pulmonary emphysema, pulmonary heart.

Extrapulmonary manifestations of cystic fibrosis - damage to the liver and biliary tract, pancreas, impaired function of the gonads.

Diagnosis of cystic fibrosis in newborns consists of neonatal screening. The amount of immunoreactive trypsinogen is determined in the blood of babies. If its level exceeds the norm, this indicates the presence of cystic fibrosis. A genetic test is additionally performed to confirm the diagnosis. Prenatal diagnosis is carried out from the 20th week of pregnancy by determining alkaline phosphatase isoenzymes in the amniotic fluid.

Sweat test for cystic fibrosis is performed by stimulating sweating in the forearm (electrophoresis with pilocarpine). Next, the amount of chlorides is determined in the sweat. To obtain reliable results, collect at least 50 mg of sweat. If the concentration of chlorides is more than 100 mmol/l, then the diagnosis is considered reliable, more than 60 mmol/l - probable. With a borderline value, it is recommended to conduct an additional test with prednisone.

A number of other research methods are also used: spirography; radiological study; computed tomography; bronchography; bronchoscopy; sputum analysis; fecal analysis, general blood analysis, biochemical blood analysis.

Clinical recommendations for cystic fibrosis depend on the form and stage of the disease. Treatment of patients with cystic fibrosis requires a complex approach. Medical examinations should take place at least once every three months.

Updated: 04.04.2025
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