Mukovystsydoz – symptoms, diagnostics, CF treatment

Mukovystsydoz – hereditary disease, caused by mutation of a specific gene - transmembrane regulator chloride transport, characterized by lesions of exocrine glands vital organs and usually has severe course and prognosis. With this pathological process is inherited enzyme defect, involved in the synthesis of mucopolysaccharides, which are part of the mucus, formed in the exocrine pancreatic glands, in the intestinal mucosa and the respiratory tract. As a result of this change of physico-chemical properties of secretion, it becomes viscous, clog ducts forming his glands, which leads to changes in their structure, dystrophic changes in epithelial glands and impaired functional activity of the relevant authorities.

Simptomы CF.

The clinical picture of the disease are the most frequent bronchopulmonary disorders, changes in the functional activity of the pancreas, It leads to a violation of the digestive processes in connection with the termination of production of enzymes, involved in the breakdown of food. Occasionally during the development of the disease viscous secretion of the pancreas causes blockage of the pancreatic ducts, resulting in a self-digestion process (Autolysis) Authority.

Bronchopulmonary disorders manifested by frequent relapses of bronchial obstruction to form a hard-discharge viscous bronchial secretions, causing obturation peripheral airways. As a result, the self-cleaning mechanism of the bronchial tubes is broken, that promotes the growth of pathogenic microorganisms and the development of inflammation in the form of bronchitis, bronhiolitov.

Intestinal syndrome can manifest as intestinal obstruction, until the development of intestinal obstruction, accompanied by abdominal pain of varying intensity and duration.

Diagnosis Cystic Fibrosis

Diagnosis is based on genealogical history (identification of the cystic fibrosis patient in close relatives), characteristic clinical picture, fecalith-based surveys, (a large amount of neutral fat in the stool), increased (3-5 times) the chloride content in the pot.

Cystic Fibrosis Treatment

Treatment in the presence of bronchial obstruction - appropriate therapy, designed to reduce inflammation and the release of mucus from the bronchi; with a decrease of exocrine pancreatic function appointed enzyme preparations (pancreatin in the form of mini-microspheres), appropriate diet, depleted fat, but balanced by a protein (at the expense of low-fat meats, fermented milk products).

Prevention Cystic Fibrosis

Prevention includes early diagnosis and treatment, diet, the regime of the day, elimination of bad habits and occupational exposures. Be sure to have regular monitoring of the patient's genetics, gastroenterologist, pulmonologist.