Cystic fibrosis , systemic hereditary disease that affects exocrine glands. The cause of cystic fibrosis is a genetic mutation. Cystic Fibrosis Clinic
Customary to distinguish four clinical forms of cystic fibrosis: meconium ileus - 5.10%, intestinal form - 5%, bronchopulmonary form - 15-20%, mixed pulmonary intestinal-65-75%.
When bronchopulmonary form of cystic fibrosis at 1-2-year life of the child showing signs of respiratory tract lesions, recurrent bronchitis and pneumonia, often bilateral, with the development of atelectasis and pneumosclerosis have a protracted course, compulsive coughing, painful, paroxysmal . Sputum is mucopurulent and purulent, viscid, leaves occasionally with difficulty. In severe pulmonary hemorrhage are possible.
The lungs are constantly listened small-and medium bubbling rale. If there is an exacerbation of the process raising the temperature to 38 ° C, cough and shortness of breath worse.
At bronhogrammah frequently detected bronchiectasis, localized in both the lower and the upper lobes of both lungs. For therapeutic and diagnostic bronchoscopy in the trachea and bronchi are defined inflammatory changes of varying intensity. Characterized by purulent plugs into the mouths of advanced mucous bronchial glands. Sputum is viscous, mucopurulent, often located in a circular bands on the walls of the trachea and major bleeding bronhovHarakterna mucosa.
The most common mixed lung-intestinal form of cystic fibrosis. For this form is characterized by a combination of symptoms of respiratory and gastro-intestinal tract. The differential diagnosis is performed with recurrent bronchitis or chronic pneumonia. Diagnosis of cystic fibrosis
The diagnosis of cystic fibrosis based on a combination of such features: 1) increasing the concentration of electrolytes, sweat, and 2) the presence of chronic broncho-pulmonary process and 3) the detection of these diseases in siblings (family history), and 4) the absence or reduction of pancreatic enzymes in duodenal juice .
For the detection of heterozygous carriers offered: a test for Spock, sweat bromide test. However, there is currently no reliable test, since the primary genetic defect of the disease is not yet installed.
In recent decades, significantly increased the number of observations of cystic fibrosis in adolescents and adults ..
In adolescents and adults about the study for graduation with cystic fibrosis: 1) the development of chronic diffuse inflammation in the bronchopulmonary system (often from childhood), 2) paroxysmal cough with viscous sputum trudnootdelyaemoy 3) the presence of objective evidence, as infantile figure, marked deficits body weight, chest deformity and nail phalanges, round puffy face, the defeat of the paranasal sinuses, and 4) a combination of respiratory lesions with peptic ulcer, chronic gastritis, episodes of abdominal pain of unknown etiology, symptoms of insufficiency of exocrine pancreatic function, juvenile diabetes, it is difficult amenable to treatment, intestinal obstruction, and 5) family history (especially in the presence of this family of cases of cystic fibrosis).
Cystic fibrosis in adults takes place slowly, but persistently progressive respiratory failure. Typical of a painful spasmodic cough with difficult expectoration thick and viscous. Pulmonary lesions occur on the type of chronic bronchitis, possibly hemoptysis.
Women, patients with cystic fibrosis who marry are able to have children, although at the time of birth may develop pulmonary disease. Men are childless. When the marriage homozygous patients with a healthy man, all children are carriers of cystic fibrosis gene. In patients with homozygous married for healthy heterozygous carrier of the gene 50% of children are healthy carriers of the gene, and 50% - patients.
