Mukov Iscidosis (Cystic Fibrosis of the Pancreas)

Cystic fibrosis (cystic fibrosis of the pancreas)

Etiology, pathogenesis. Cystic fibrosis is a severe hereditary disease caused by a mutation in the CFTR gene. This leads to disruption of the transport of chlorine ions in the cells of the exocrine glands and increased viscosity of secretions, which causes damage to the lungs, pancreas, intestines and other organs. Characterized by a significant increase in the concentration of chlorine and sodium in sweat. Inherited in an autosomal recessive manner.

Clinical picture. There are pulmonary, intestinal and mixed forms. Children develop cough, pneumonia, and bronchitis early. With age - bronchiectasis, emphysema, pneumosclerosis. In the intestinal form - impaired absorption, bloating, fatty stools.

Diagnosis is based on a sweat test (increased chloride content), scatological analysis, and meconium test in newborns.

Treatment includes antibacterial drugs, enzymes, vibration massage, and bronchosanitation. A diet high in protein and carbohydrates. The prognosis is serious, mortality up to 50%. Prevention - medical genetic counseling and early diagnosis.