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Cystic fibrosis

Cystic fibrosis (cystic fibrosis of the pancreas) is characterized by a systemic lesion of the exocrine glands by increasing the viscosity of their secretion, which, as applied to the bronchopulmonary system, causes a sharp violation of the cleansing function of the bronchi and bronchial permeability.

Frequent monogenic disease due to mutation of the cystic fibrosis gene, characterized by lesions of the exocrine glands, vital organs and systems, and usually having a severe course and prognosis.

In most countries of Europe and North America, CF rates range from 1: 2000 to 1: 4000 newborns. In Russia, 1: 12 000 newborns.

It is inherited in an autosomal recessive manner, i.e., both parents must be carriers of the mutant gene. The probability of birth of a patient with CF in such a family is 25%, 2-5% of the population are carriers of the MV gene.

The CF gene was isolated in 1989 and is located in the middle of the long arm of the 7th chromosome. To date, more than 1000 gene mutations have been isolated. The most frequent mutation is del F 508 (53%).

Mutations of the CF gene in the homozygous state lead to disruption of protein synthesis, which forms the chlorine channel in the membranes of epithelial cells, through which passive transport of chlorine ions occurs. This protein is called the cystic fibrosis transmembrane conductivity regulator (MBTP).

Pathogenesis. The pathogenesis is that the secret of the exocrine glands, due to dysfunction of the chlorine canal, becomes particularly viscous, which explains most of the pathological processes underlying the pathogenesis of the disease.

Clinic. In the bronchopulmonary system, a viscous secret, accumulating in the lumen of the bronchi, leads to complete obstruction of small bronchioles. As a result of infection with pathogenic microflora purulent inflammation develops. The most frequent pathogens are: staphylococcus and pyocyanic stick. The bronchial wall is destroyed. Formed bronchiectasis, pulmonary heart.

In patients with cystic fibrosis, the chlorine channel on the apical part of the cell membrane “does not work”, resulting in impaired chlorine release from the cell, which contributes to an increased departure of sodium ions from the lumen into the cell, followed by the water component of the intercellular space. The result is a thickening of secretions of external secretion glands (bronchopulmonary system, pancreas, salivary glands, sex glands).

The presence in the family of diseases of the lungs and intestines, stillbirths, spontaneous abortions. From birth - dry, hacking cough. Early onset of continuous relapsing bronchopulmonary inflammation. Exhaustion and physical development. Respiratory failure. "Drumsticks".

Kilevidny bulging of the sternum. FER - persistent obstructive and restrictive disorders. Often seeding Pseudomonas. Pulmonary heart. Almost all patients excretory pancreatic insufficiency.

The defeat of the gastrointestinal tract in cystic fibrosis:

1) reflux esophagitis;

2) ulcerative esophagitis;

3) gastritis;

4) duodenitis;

5) biliary reflux;

6) gastric and duodenal ulcer;

7) coprostasis;

8) meconial ileus;

9) delayed evacuation of meconium;

10) fecal ileus;

11) intestinal invagination;

12) biliary cirrhosis;

13) portal hypertension;

14) acute pancreatitis;

15) fatty degeneration of the pancreas;

16) diabetes.


Survey plan.

1. Radiography of the chest. Radiological signs: in the form of deformation of the bronchopulmonary pattern, atelectasis, pulmonary fibrosis, bronchiectasis.

When bronchoscopy are determined by inflammatory changes, obstruction of the bronchi purulent secretion.

2. X-ray of the paranasal sinuses.

3. Ultrasound of the pancreas.

4. Expanded coprogram (neutral fat).

5. Sweat test (sweat chlorides).

6. Molecular genetic examination.

7. Sow sputum (if possible).

8. Study of respiratory function (after 6 years).

Laboratory data: an increase in the content of chlorides in the sweat (repeatedly above 60.0 mmol / l). Detection of mutant cystic fibrosis gene.

Search group to exclude cystic fibrosis.

In infancy:

1) recurrent or chronic respiratory symptoms (cough, shortness of breath);

2) recurrent or chronic pneumonia;

3) lag in physical development;

4) unformed, abundant, oily and fetid stools;

5) chronic diarrhea;

6) prolonged neonatal jaundice;

7) salty taste of the skin;

8) heatstroke or dehydration in hot weather;

9) chronic hypoelectrolytemia;

10) family history data on the death of children in the first year of life or the presence of siblings with similar clinical manifestations;

11) hypoproteinemia / edema.

Search group to exclude cystic fibrosis in preschool children:

1) persistent cough with or without purulent sputum;

2) diagnostically unclear recurrent or chronic dyspnea;

3) lag in body mass and height;

4) prolapse of the rectum;

5) invagination;

6) chronic diarrhea;

7) the symptom of "drum sticks";

8) salt crystals on the skin;

9) hypotonic dehydration;

10) hypoelectrolytemia and metabolic alcoholism;

11) hepatomegaly or diagnostically unclear liver dysfunction.

Search group to exclude cystic fibrosis in children of school age:

1) chronic respiratory symptoms of unknown etiology;

2) pseudomonas aeruginosa in sputum;

3) chronic sinusitis;

4) nasal polyposis;

5) bronchiectasis;

6) the symptom of "drum sticks";

7) chronic diarrhea;

8) distal intestinal obstruction syndrome;

9) pancreatitis;

10) prolapse of the rectum;

11) diabetes in combination with respiratory symptoms;

12) hepatomegaly;

13) liver disease of unknown etiology.

The search group to exclude cystic fibrosis in adolescents and adults:

1) purulent disease of the lungs of unknown etiology;

2) the symptom of "drumsticks";

3) pancreatitis;

4) distal intestinal obstruction syndrome;

5) diabetes in combination with respiratory symptoms;

6) signs of cirrhosis and portal hypertension;

7) growth retardation;

8) delayed sexual development;

9) sterility with azoospermia in males;

10) reduced fertility in females.

Objectives of treating a patient with cystic fibrosis.

1. Support the lifestyle of the patient as close as possible to the life of healthy children.

2. Control of respiratory infections.

3. Ensuring adequate nutrition.

Mandatory treatment guidelines:

1) physiotherapy (physiotherapy, kinesitherapy);

2) mucolytic therapy;

3) antimicrobial therapy;

4) enzyme therapy (pancreatic preparations);

5) vitamin therapy;

6) diet therapy;

7) treatment of complications;

8) kinesitherapy.


1) postural drainage;

2) percussion and vibration of the chest (klopfmassazh);

3) active respiration cycle;

4) autogenous drainage;

5) breathing exercises with the help of flutter and peep mas-


Sports recommended for patients with cystic fibrosis: swimming, running, cycling, skiing, badminton, tennis, horseback riding, yoga, wushu, volleyball, golf, tourism.

Sports prohibited for patients with cystic fibrosis: skates, weightlifting, football, boxing, hockey, diving, rugby, judo, basketball, motorcycling.

Inhalation therapy (bronchodilators, mucolytics, antibiotics). Recommendations of the Cystic Fibrosis Center.

1. Take 5 minutes before inhalation with bronchodilators (salbutamol, etc.).

2. Blow your nose thoroughly.

3. Take the correct position: sit up straight, straighten your chest, shoulders and shoulder blades down.

4. Inhalation of mucolytic (N-acetylcysteine, saline, etc.) 8-10 min.

5. Kinesitherapy: breathing exercises, drainage, exercise therapy.

6. Inhalation of the antibiotic and through a topical corticosteroid spacer.

In the case of the use of pulmozyme, it is inhaled 30–40 minutes after inhalation of other drugs.

Step approach to the treatment of cystic fibrosis.

St. Aureus.

1. Antibiotics up to 2-4 months. in the year, of which 1-2 courses in / in or in / m (1-2 drugs).

2. PEP therapy.

Pseudomonas aeruginosa.

1. Antibiotics - 2-4 courses in / in for 14 days (2 drugs). Total antibiotics up to 4-6 months per year.

2. Hepatotropic drugs.

3. Bacterial drugs.

Pseudomonas aeruginosa-resist.

1. Antibiotics - 4-6 courses in / in for 14-20 days (2-3 drugs).

2. Hepatotropic drugs.

3. Bacterial drugs.

4. Antimycotics in inhalation.

5. NSAIDs.

6. Hormonal drugs.

Life prognosis is due to respiratory disorders caused by chronic pulmonary infection.

The progression of the bronchopulmonary process increases after the development of chronic sinus infection.

The currently used various modes of oral, inhalation and intravenous antibiotic therapy can prevent or delay the development of chronic infections of the lower respiratory tract.

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