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Cystic Fibrosis

Cystic fibrosis (cystic fibrosis of the pancreas) is characterized by systemic damage to the exocrine glands due to an increase in the viscosity of their secretions, which, as applied to the bronchopulmonary system, causes a sharp violation of the purging function of the bronchi and bronchial patency.

Frequent monogenic disease caused by a mutation of the cystic fibrosis gene, characterized by the defeat of exocrine glands, vital organs and systems, and usually having a heavy course and prognosis.

In most countries in Europe and North America, CF morbidity ranges from 1: 2000 to 1: 4,000 newborns. In Russia, 1: 12,000 newborns.

It is inherited by an autosomal recessive type, that is, both parents must be carriers of a mutant gene. The probability of a patient with a CF in this family is 25%, and 2-5% of the population are carriers of the MB 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 1,000 gene mutations have been isolated. The most common mutation is del F 508 (53%).

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

Pathogenesis. Pathogenesis is that the secret of the exocrine glands, due to the violation of the function of the chlorine canal becomes especially viscous, which explains the majority 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 obturation of small bronchioles. As a result of infection with pathogenic microflora, purulent inflammation develops. The most frequent pathogens: staphylococcus and Pseudomonas aeruginosa. The bronchial wall breaks down. Formed bronchiectasis, pulmonary heart.

In patients with cystic fibrosis, the chlorine channel does not work on the apical part of the cell membrane, which leads to disruption of chlorine output from the cell, which promotes increased clearance of the sodium ions from the lumen to the interior of the cell, and behind it the aqueous component of the intercellular space. The consequence is the thickening of the secrets of the glands of external secretion (bronchopulmonary system, pancreas, salivary glands, sex glands).

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

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

GI tract involvement in cystic fibrosis:

1) reflux esophagitis;

2) ulcerative esophagitis;

3) gastritis;

4) duodenitis;

5) biliary reflux;

6) stomach ulcer and duodenal ulcer;

7) coprostasis;

8) meconial ileus;

9) Meconium evacuation delay;

10) fecal ileus;

11) intussusception of the intestine;

12) biliary cirrhosis;

13) portal hypertension;

14) acute pancreatitis;

15) fatty degeneration of the pancreas;

16) diabetes mellitus.


Survey plan.

1. Radiography of the chest. X-ray signs: in the form of deformation of bronchopulmonary pattern, atelectasis, pneumofibrosis, bronchiectasis.

With bronchoscopy, inflammatory changes are determined, bronchial obstruction is purulent secret.

2. Radiography of the paranasal sinuses.

3. Ultrasound of the pancreas.

4. A detailed coprogram (neutral fat).

5. A sweat test (sweat chloride).

6. Molecular genetic examination.

7. Sowing sputum (if possible).

8. Research FVD (after 6 years).

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

A search group for the exclusion of cystic fibrosis.

In infancy:

1) recurrent or chronic respiratory symptoms (cough, dyspnea);

2) relapsing or chronic pneumonia;

3) lag in physical development;

4) unformed, plentiful, oily and fetid stool;

5) chronic diarrhea;

6) prolonged neonatal jaundice;

7) salty skin taste;

8) heat shock or dehydration in hot weather;

9) chronic hypoelectrolithy;

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

11) hypoproteinemia / edema.

The search group for the exclusion of cystic fibrosis in preschool children:

1) persistent cough with or without purulent sputum;

2) Diagnostically unclear recurrent or chronic dyspnea;

3) lag in body weight and growth;

4) prolapse of the rectum;

5) intussusception;

6) chronic diarrhea;

7) a symptom of "drumsticks";

8) salt crystals on the skin;

9) hypotonic dehydration;

10) hypoelectrolitemia and metabolic alkalosis;

11) hepatomegaly or a diagnosis of unclear liver function disorder.

A search group for the exclusion of cystic fibrosis in school-age children:

1) chronic respiratory symptoms of unclear etiology;

2) pseudomonas aeruginosa in sputum;

3) chronic sinusitis;

4) nasal polyposis;

5) bronchiectasis;

6) a symptom of "drumsticks";

7) chronic diarrhea;

8) syndrome of distal intestinal obstruction;

9) pancreatitis;

10) prolapse of the rectum;

11) diabetes mellitus in combination with respiratory symptoms;

12) hepatomegaly;

13) liver disease of unclear etiology.

The search group for the elimination of cystic fibrosis in adolescents and adults:

1) purulent lung disease of unclear etiology;

2) a symptom of "drumsticks";

3) pancreatitis;

4) syndrome of distal intestinal obstruction;

5) diabetes mellitus in combination with respiratory symptoms;

6) signs of cirrhosis of the liver and portal hypertension;

7) lag in growth;

8) delay in sexual development;

9) sterility with azoospermia in males;

10) reduction of fertility in females.

Objectives of therapy for a patient with cystic fibrosis.

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

2. Control of respiratory infections.

3. Ensuring adequate nutrition.

Mandatory directions in treatment:

1) physiotherapy (physiotherapy, kinesitherapy);

2) mucolytic therapy;

3) antimicrobial therapy;

4) fermentotherapy (pancreas 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 cycle of breathing;

4) autogenous drainage;

5) breathing exercises with the help of flutter and PEP-mass-


Sports recommended for patients with cystic fibrosis: swimming, running, cycling, skiing, badminton, big and small tennis, horse riding, yoga, wushu, volleyball, golf, hiking.

Kinds of sports forbidden for patients with cystic fibrosis: skating, weightlifting, football, boxing, hockey, diving, rugby, judo, basketball, motorcycling.

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

1. For 5 minutes before inhalation, take a bronchodilator (salbutamol, etc.).

2. Thoroughly blow your nose.

3. Take the right position: sit up straight, spread the chest, shoulders and shoulder blades down.

4. Inhalation of mucolytics (N-acetylcysteine, physiological solution, etc.) 8-10 min.

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

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

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

Stepwise approach to the treatment of cystic fibrosis.

St. Aureus.

1. Antibiotics up to 2-4 months. in a year, from them 1-2 courses in / in or in / m (1-2 preparations).

2. PEP-therapy.

Pseudomonas aeruginosa.

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

2. Hepatotropic drugs.

3. Bacterial preparations.

Pseudomonas aeruginosa-resist.

1. Antibiotics - 4-6 courses iv in 14-20 days (2-3 preparations).

2. Hepatotropic drugs.

3. Bacterial preparations.

4. Antimycotics in inhalations.

5. NSAIDs.

6. Hormonal preparations.

The life expectancy is caused by respiratory disorders caused by chronic pulmonary infection.

Progression of the bronchopulmonary process increases after the development of chronic Pseudomonas aeruginosa infection.

Current regimens of oral, inhalation and intravenous antibiotic therapy can prevent or delay the development of chronic lower respiratory infection.

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