LECTURE No. 18. Congenital and hereditary lung diseases

A malformation is an anomaly in most cases of intrauterine development, resulting in gross changes in the structure and function of an organ or tissue.

Classification of malformations of the bronchopulmonary system.

1. Defects associated with underdevelopment of the organ as a whole or its anatomical, structural, tissue elements:

1) lung agenesis;

2) lung aplasia;

3) lung hypoplasia;

4) cystic hypoplasia (polycystic);

5) tracheobronchomegaly (Mounier-Kuhn syndrome);

6) Williams-Campbell syndrome;

7) congenital lobar emphysema.

2. Defects associated with the presence of excess dysembryogenetic formations:

1) accessory lung (lobe) with normal blood supply or with abnormal blood supply;

2) lung cyst with normal blood supply or with abnormal blood supply;

3) hamartoma and other tumor-like formations.

3. Unusual anatomical location of lung structures, sometimes of clinical significance:

1) reverse arrangement of the lungs (Kartegener's syndrome);

2) mirror lung;

3) tracheal bronchus;

4) share of the unpaired vein.

4. Localized violations of the structure of the trachea and bronchi:

1) stenosis;

2) diverticula;

3) tracheoesophageal fistulas.

5. Anomalies of blood and lymphatic vessels:

1) stenosis of the pulmonary artery and its branches;

2) varicose pulmonary veins;

3) multiple arteriovenous fistulas without clear localization.

Hereditary diseases of the respiratory system account, according to various authors, from 5 to 35% of the total number of patients with nonspecific lung diseases.

Chronic lung diseases in children (S. Yu. Kaganov, 200311/).

1. Infectious and inflammatory diseases.

2. Congenital malformations of the bronchopulmonary system.

3. Hereditary lung diseases.

4. Lung lesions in other hereditary diseases.

5. Allergic diseases of the lungs.

Classification of COPD in children (E. V. Klimanskaya, 2001):

1) a common type of pathological changes that cause obstruction:

a) common malformations with insufficiency of the muscular-elastic and cartilaginous framework of the trachea and bronchi. Tracheobronchomalacia, tracheobronchomegaly (Mounier-Kuhn syndrome), Williams-Campbell syndrome;

b) a hereditary defect in the structure of the ciliary epithelium of the mucous membrane of the respiratory tract. Primary ciliary dyskinesia, fixed cilia syndrome, Kartagener syndrome;

c) universal genetically determined exocrinopathy (pathological viscosity of bronchial secretions). Cystic fibrosis;

2) local type of changes causing obstruction (developmental defects):

a) tracheobronchial stenoses, fistulas, cysts;

b) cardiovascular abnormalities with compression of the trachea, anomaly of the aorta (double arch) and pulmonary artery.

Acquired diseases:

1) a common type of pathological changes that cause obstruction:

a) allergic inflammation, bronchial asthma;

b) infectious inflammation;

2) recurrent and chronic obstructive bronchitis;

3) local type of pathological changes causing obstruction (mechanical factors);

4) foreign body, tumor, infectious granuloma, post-traumatic cicatricial stenosis.

Congenital malformations are persistent morphological changes in an organ or organism that go beyond variations in their structure and arise in utero as a result of disturbances in the development of the embryo, fetus, or sometimes after the birth of a child as a consequence of disturbances in the further formation of organs. The vast majority of developmental defects are associated with hereditary pathology.

Only 3-5% of all malformations are associated with the actions of teratogenic factors.

Stages of impaired embryonic development of the lung (Monaldi, 1959).

1. The first stage includes lung agenesis as a result of the absence of a primary bronchial kidney.

2. At the second stage, there is a disturbance in the development of the primary bronchial kidney, leading to underdevelopment of the main bronchus and pulmonary aplasia. These defects occur in the 3-4th week of the embryonic period.

3. The third stage of the disorder occurs on the 30-40th day of intrauterine development and is characterized by the presence of lung hypoplasia.

4. The fourth stage (II-V months of the intrauterine period) is determined by a violation of the development of small bronchi and leads to the development of polycystic lung disease.

Diagnosis of congenital and hereditary lung diseases: it is believed that of the numerous pulmonary symptoms, cough, sputum, and hemoptysis have the greatest objective significance in the diagnosis of respiratory diseases.

Other important symptoms: shortness of breath, cyanosis, change in the shape of the chest (recession, flattening, keeled protrusion of the sternum), “drumsticks”, “watch glasses”, percussion: shortening of the percussion sound, displacement of the heart towards the pathologically changed lung, auscultation: constancy of auscultation pictures (weakened breathing, its absence, various wheezing).

Research methods.

1. X-ray examinations, bronchological examination (bronchoscopy, bronchography), angiography.

Indicated for suspected pulmonary separation and sequestration, as well as for identifying vascular changes (anomaly of the aortic ring, hypoplasia, ectasia and atypical origin of the pulmonary artery).

2. Computed tomography.

3. Study of the cilia of the mucous membrane of the respiratory tract (electron microscopic examination; phase-contrast study).

4. Determination of mucociliary clearance (mucociliary cleansing system).

5. Immunological examination.

6. Sweat test.

7. Molecular genetic examination.

8. Functional methods for studying external respiration

9. Morphological research methods. Congenital malformations of the lungs.

1. Agenesis, aplasia and hypoplasia of the lungs.

2. Polycystic lungs.

3. Congenital lobar emphysema.

4. Williams-Campbell syndrome.

5. Tracheobronchomegaly (Mounier-Kuhn's syndrome).

6. Anomalies of branching of the bronchi.

Pulmonary agenesis is the absence of a lung along with the main bronchus.

Pulmonary aplasia is the absence of a lung in the presence of a rudimentary main bronchus.

Lung hypoplasia - there are main and lobar bronchi, which end in a functionally imperfect rudiment, the lung tissue is underdeveloped, agenesis, aplasia and hypoplasia of the lungs.

Clinical picture: cough, shortness of breath. Repeated pneumonia, bronchitis. Children are lagging behind in physical development. Deformation of the chest - retraction or flattening on the side of the defect. In children with pulmonary hypoplasia, a keeled protrusion of the sternum is observed (compensatory emphysema of the unaffected lung). The mediastinal organs are shifted towards the defect.

1. Agenesia, aplasia and hypoplasia of the lungs

On radiography, there is a decrease in the volume of the chest on the side of the defect, intense darkening in this area, and a high position of the dome of the diaphragm. The spinal column is “exposed.” There may be a prolapse of a healthy lung into the other half of the chest with the formation of a “pulmonary hernia.”

Bronchoscopy reveals the absence or rudiment of the main bronchus, narrowing of the lobar bronchi.

With bronchography, if agenesis and absence of the main bronchus are noted; if aplasia has a rudimentary bronchus, with hypoplasia large bronchi are filled, in the absence of small bronchial branches - agenesis, aplasia and hypoplasia of the lungs.

With agenesis and aplasia, conservative therapy aimed at suppressing bronchopulmonary infection.

With hypoplasia of the lung, surgical treatment is preferred.

2. Polycystic lung disease

Polycystic lung disease (cystic hypoplasia) is a developmental defect caused by antenatal underdevelopment of the pulmonary parenchyma, blood vessels and bronchial tree with the formation of many cavities (cysts) distal to the subsegmental bronchi.

Clinical picture. Cough, purulent sputum, sometimes hemoptysis. Almost from birth, there is a continuously recurrent course of inflammation in the bronchopulmonary system. Children are lagging behind in physical development, “drumsticks”. Deformation of the chest on the side of the defect.

Diagnostics. With X-ray and tomography, cellular formations are detected.

Bronchography reveals multiple round cavities. Cystic formations are more often localized in the left lung or have bilateral damage.

Computed tomography revealed cystic formations, their predominant localization in the left lung.

Complications. Complications of polycystic pulmonary disease: suppurative pulmonary processes, pneumothorax, pulmonary hemorrhage, amyloidosis (rare).

Treatment. Surgical.

Contraindications: prevalence of the process, severe manifestations of pulmonary heart failure.

3. Congenital lobar emphysema

Congenital lobar emphysema is characterized by stretching of the parenchyma of a lobe (less commonly, a segment) due to partial obstruction of the draining bronchus.

Hypotheses of pathogenesis:

1) underdevelopment or absence of bronchial cartilage;

2) hypertrophy of the bronchial mucosa with the formation of folds and mucus plugs;

3) compression of the bronchus from the outside by bronchogenic cysts, abnormally located vessels (favorite localization is the upper lobe of the left lung).

X-ray and tomography show increased transparency of the affected part of the lung. The pulmonary pattern in this area is poor or not visible at all. The diaphragm is flattened, its excursion is limited. The mediastinum is shifted towards the unaffected lung.

Bronchological examination is not very informative, and most importantly, it is unsafe for patients, as it can lead to rupture of the emphysematously inflated part of the lung.

Treatment. Surgical removal of the affected part of the lung.

4. Williams-Campbell Syndrome

Williams-Campbell syndrome is characterized by the complete absence or insufficient development of cartilaginous rings of the bronchi of the 3rd-8th order. Autosomal recessive inheritance of the defect is assumed.

Clinical picture. Early appearance of bronchopulmonary inflammation. Deformation and swelling of the chest. Shortness of breath, wheezing, cough with sputum, moist rales in the lungs. Deformation of the nails and terminal phalanges of the fingers in the form of “drumsticks”. A sharp violation of respiratory function, the development of obstructive ventilation failure.

Diagnostics. On radiographic examination, swelling of the lung tissue.

FVL: obstructive ventilation disorders. Bronchoscopy shows bronchitis and prolapse of the bronchial walls.

Bronchography reveals the presence of generalized and ballooning bronchiectasis with typical proximal localization; the lower lobes are predominantly affected.

The course is unfavorable; patients die from progressive pulmonary heart failure.

5. Tracheobronchomegaly

Tracheobronchomegaly is characterized by dilation of the trachea and main bronchi. It is believed that the defect is based on a congenital defect of elastic and muscle fibers in the wall of the bronchi and trachea. Autosomal recessive inheritance of the defect is assumed.

6. Mounier-Kuhn syndrome

Clinical picture. From an early age, cough with sputum, repeated exacerbations of bronchopulmonary disease, increasing respiratory failure during exacerbation and with age. Deformation of the nail phalanges in the form of “drumsticks”.

X-ray signs: deformation of the pulmonary pattern with areas of compaction. Expansion of the lumen of the trachea and large bronchi. Bronchiectasis in the lower lobe segments.

During bronchoscopy, expansion of the lumen of the trachea (bronchi), thickening of the walls with bulging of intercartilaginous spaces into the lumen, pathological secretion.

Treatment. Treatment is conservative, aimed at combating bronchopulmonary infection.

Monogenic lung diseases:

1) primary ciliary dyskinesia and Kartagener's syndrome;

2) idiopathic diffuse pulmonary fibrosis (Hamman-Rich syndrome, idiopathic fibrosing alveolitis);

3) primary pulmonary hypertension (Aers syndrome);

4) idiopathic hemosiderosis of the lungs (Tselen-Gellerstedt syndrome);

5) Goodpasture's syndrome;

6) family spontaneous pneumothorax;

7) alveolar microlithiasis;

8) alveolar proteinosis;

9) cystic fibrosis;

10) a1-antitrypsin deficiency.

7. Primary ciliary dyskinesia (fixed cilia syndrome) and Kartagener's syndrome

It is based on a genetically determined defect in the structure of the ciliated epithelium of the respiratory tract mucosa.

The morphological essence of the defect in its classical version is reduced to the loss of dynein handles containing ATP, which ensures the movement of cilia.

Kartagener syndrome is characterized by the following triad, which includes the reverse position of internal organs, bronchiectasis and chronic sinusitis, rhinitis, and otitis. Pathogenesis:

1) congenital defect of eyelashes with disruption of their movement (slowdown, dissynchronization);

2) decrease in mucociliary transport;

3) stagnation of the secret;

4) sinusitis, bronchitis (bronchiectasis, polycystosis, pneumosclerosis), otitis media, rhinitis.

Clinical picture. Continuously recurrent bronchopulmonary inflammation from the first days of life. Retarded physical development, constant cough with purulent sputum, moist rales in the lungs, changes in the shape of the nails and terminal phalanges of the fingers, chronic sinusitis.

Diagnostics. X-ray examination reveals deformation of the pulmonary pattern, focal compactions, and bronchiectasis. Reverse arrangement of internal organs in Kartagener syndrome.

Bronchoscopy reveals a chronic purulent-inflammatory process, a mirror arrangement of the bronchi in Kartagener's syndrome.

Laboratory data: electron microscopy reveals pathology in the structure of the ciliary apparatus.

Treatment is aimed at suppressing the inflammatory process in the lungs and nasopharynx; drainage therapy (postural drainage, exercise therapy, therapeutic bronchoscopy, inhalation of mucolytics), surgical treatment is usually ineffective.

8. Idiopathic diffuse pulmonary fibrosis (Hammen-Rich syndrome, idiopathic fibrosing alveolitis - ELISA)

Pathogenesis. The pathogenesis of ELISA is considered to be an autoimmune process; Rarely occurs in childhood, more often in humans

50-60 years.

Clinical picture. Dyspnea (mainly difficulty inhaling), cough (dry, non-productive), dyspnea inconsistency with relatively minor physical changes in the lungs, nail plates in the form of “drumsticks”, sometimes hemoptysis, auscultation of a few tiny crepitating moist rales (“crackling of cellophane”), hypoxemia, hypercapnia.

X-ray examination reveals diffuse enhancement of the pulmonary pattern and the presence of focal shadows; the “frosted glass” symptom is a diffuse decrease in the transparency of the lung tissue.

With bronchography, narrowing of the bronchi, their deformation.

9. Primary pulmonary hypertension (AERS syndrome)

It is characterized by hypertrophy of the right ventricular myocardium and dilation of the pulmonary artery trunk. Morphologically, fibrosis and fibroelastosis of the intima, fibrinoid-necrotizing arteritis of small branches of the pulmonary artery and thrombosis are revealed. It is believed that the immediate cause is fibrosis and fibroelastosis of the muscular layer of the pulmonary arterioles, most likely associated with a genetically determined defect of smooth muscle fibers. Refers to diseases with an autosomal dominant type of inheritance. More common in young women and girls.

Clinical picture. Shortness of breath, cyanosis, right ventricular hypertrophy, physical changes in the lungs are usually absent, “drumsticks”.

Severe, rapidly progressing primary pulmonary hypertension, occurring with severe cyanosis, shortness of breath, polycythemia, and severe hypertrophy of the right heart is defined as AERSA ​​syndrome (AERSA).

Diagnostics. An X-ray examination reveals a sharp expansion of the proximal parts of the pulmonary artery with a weakening of the pulmonary pattern in the peripheral parts of the lungs, an increase in the size of the right parts of the heart, expansion of the roots of the lungs and their increased pulsation.

On the ECG: signs of a sharp overload of the right ventricle and its hypertrophy.

ECHO KG: dilation of the pulmonary artery, enlargement of the right ventricle, regurgitation of blood into the right ventricle.

Treatment. Calcium antagonists, a-blockers.

Forecast. Adverse; death from progressive right ventricular failure.

10. Idiopathic hemosiderosis of the lungs (Celena-Gellerstedt syndrome)

The disease is based on the formation of antipulmonary antibodies in response to exposure to a sensitizing agent. The resulting immune complexes are fixed on the basement membranes of the alveoli and pulmonary capillaries and cause damage to the lung tissue. An allergic reaction unfolding in the territory of the shock organ causes damage to the pulmonary capillaries, diapedesis and destruction of red blood cells with subsequent deposition of hemosiderin in the alveoli and alveolar septa.

11. Goodpasture's Syndrome

Goodpasture syndrome is a combination of pulmonary hemosiderosis and glomerulonephritis, characterized by immunological damage to the basement membranes of the lungs and kidneys.

Pathogenesis. For various reasons, red blood cells enter the lung tissue from the vessels and become auto-AG; autoATs are produced on them; As a result of the AG-AT reaction, red blood cells disintegrate. This hypothesis is based on the immunoallergic genesis of idiopathic pulmonary hemosiderosis. Refers to respiratory allergies, which can explain the cyclical course of the disease. The disease is predominantly of childhood.

Morphological picture: hemosiderin deposition in the alveoli and interalveolar septa.

Clinical manifestations. Clinical picture: the onset of the disease may occur in children of the first years of life; the course is usually undulating: periods of crises are replaced by remission of varying durations. During crises, temperature rises, cough, shortness of breath, chest pain, hemoptysis (blood streaks, intense coloration of sputum, pulmonary hemorrhages are possible), anemia; hepatolienal syndrome; the cor pulmonale gradually forms.

Diagnostics. Blood tests show hypergammaglobulinemia, increased CEC levels, detection of antipulmonary antibodies (sometimes), increased indirect bilirubin, hypochromic anemia, decreased serum iron.

X-ray examination during crises reveals multiple cloud-like shadows, usually bilateral; pneumosclerosis gradually develops.

Forecast. Patients die from pulmonary heart failure or pulmonary hemorrhage, spontaneous pneumothorax (caused by thinning of the walls and rupture of subpleurally located emphysematous bullae). It is one of the hereditary diseases with an autosomal dominant type of inheritance (as an independent disease).

12. Pathology of connective tissue

May accompany hereditarily caused connective tissue pathology (Marfan syndrome, Ehlers-Danlos syndrome, α1-antitrypsin deficiency).

Clinical picture. Sudden sharp stabbing pain in the chest, aggravated by deep inspiration, shortness of breath, a “box” sound upon percussion on the affected side, a sharp weakening of respiratory sounds (auscultation), displacement of cardiac dullness to the opposite side.

X-ray examination reveals the presence of air in the pleural cavity and collapse of the lung.

Treatment. Treatment for spontaneous pneumothorax is drainage of the pleural cavity with constant active aspiration (according to Belau).

13. Alveolar microlithiasis

It is characterized by the formation in the pulmonary alveoli of tiny stones, which consist of calcium carbonate and thio-phosphates with a small admixture of iron salts and traces of magnesium. As a result of stone deposition, an alveolar-capillary block occurs and ventilation-perfusion relationships are disrupted. Inherited in an autosomal recessive manner.

Pathogenesis. The formation of stones in the alveoli is associated with disturbances in the production of alveolar fluid, as well as a disorder of carbonic acid metabolism - alveolar microlithiasis. The disease occurs in all age groups.

Clinical manifestations. The clinical picture is varied. A discrepancy between the poor clinical picture and radiological changes is characteristic.

There may be no symptoms at all; may be bothered by shortness of breath, cyanosis, decreased exercise tolerance. As the process progresses, signs of chronic pneumonia appear: cough, sputum, fever, “drumsticks” and cor pulmonale appear.

Diagnostics. X-ray examination reveals small diffuse shadows of stony density, located mainly in the lower and middle parts of the lungs; compaction of the pleura is noted (differentiated with tuberculosis).

FVD: restrictive breathing disorders. During a lung biopsy, calcifications are found in the lumen of the alveoli, sometimes located in the lumen and wall of the bronchi. Treatment. Symptomatic.

Forecast. Adverse; death from pulmonary heart failure.

14. Alveolar proteinosis

Alveolar proteinosis is caused by the accumulation of protein-lipoid substance in the alveoli. The histological picture is characterized by the presence of granular exudate in the lumen of the alveoli with a PAS-positive reaction. It is transmitted in an autosomal recessive manner.

Pathogenesis. A genetic defect leading to the synthesis of a defective surfactant that does not have surface-active properties; this lipoprotein is characterized by a strong PAS-positive reaction; filling the alveoli with lipoprotein causes changes in lung function and corresponding clinical symptoms: progressive shortness of breath, cough, chest pain, hemoptysis; subsequently, cor pulmonale is formed with corresponding symptoms.

Diagnostics. X-ray examination reveals bilateral small-focal (small-pointed) darkening, which tends to merge, and subsequently fibrous changes are revealed.

Biopsy: presence of PAS-positive substance (diagnosis confirmation).

Electron microscopy reveals surfactant in the form of lamellar bodies in the alveoli and alveolar macrophages.

Treatment. Therapeutic bronchoalveolar lavage; administration of trypsin, chymotrypsin.

15. Lung lesions in a deficiency of a - protease inhibitor

Lung lesions due to α1 protease inhibitor deficiency are characterized by predominant damage to the respiratory part of the lung tissue in the form of early developing primary emphysema due to the action of non-inactivated proteases (trypsin, elastase, etc.) on the lung tissue. α1-antitrypsin deficiency is inherited in an autosomal recessive manner (gene on chromosome 14).

Pathogenesis. Links of pathogenesis:

1) proteases, trypsin, chemotrypsin, elastase;

2) hereditary deficiency of α1-anti-titrypsin;

3) imbalance in the protease-antiprotease system during inflammation, injuries, burns towards an increase in proteases;

4) damage to elastin, collagen, proteoglycans;

5) destruction of the elastic fibers of the lung tissue;

6) depletion and rupture of the alveolar septa;

7) primary panlobular emphysema. Protease inhibitors are proteins that have the property of inactivating proteolytic enzymes of endogenous and exogenous origin.

Clinic. Shortness of breath (main complaint), gradual loss of body weight, rare (dry) or absent cough, scanty sputum, barrel-shaped chest.

Diagnostics. X-ray examination reveals an increase in the transparency of the lung fields; when giant bullae form, the pulmonary pattern is absent (“disappearing”, “super-transparent” lung); the diaphragm is usually flattened, stands low, and its mobility is sharply limited; the heart shadow is small in size - “drop-shaped”.

Computed tomography reveals foci of bullous emphysema or giant bullae. Study of aj-antitrypsin content in blood serum (ELISA).

Treatment:

1) substitution therapy (intravenous administration of native c^-antitrypsin;

2) introduction of native human plasma;

3) introduction of contrical, gordox;

4) gene therapy: introduction of a gene using a retrovirus vector (in animals).

Forecast. The prognosis is ambiguous, most often doubtful.

16. 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 in relation to the bronchopulmonary system causes a sharp disruption of the cleansing function of the bronchi and bronchial patency.

A common monogenic disease caused by a mutation in the cystic fibrosis gene, characterized by damage to the exocrine glands, vital organs and systems, and usually has a severe course and prognosis.

In most countries of Europe and North America, CF affects between 1:2000 and 1:4000 newborns. In Russia 1: 12 0 °C newborns.

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

The CF gene was isolated in 1989 and is located in the middle of the long arm of chromosome 7. To date, more than 1000 gene mutations have been identified. The most common mutation is del F 508 (53%). Mutations of the CF gene in the homozygous state lead to disruption of the synthesis of the protein that forms the chlorine channel in the membranes of epithelial cells, through which passive transport of chlorine ions occurs. This protein is called cystic fibrosis transmembrane conductance regulator (CFTR).

Pathogenesis. The pathogenesis lies in the fact that the secretion of the exocrine glands, due to dysfunction of the chlorine channel, becomes especially viscous, which explains most of the pathological processes underlying the pathogenesis of the disease.

Clinic. In the bronchopulmonary system, a viscous secretion, accumulating in the lumen of the bronchi, leads to complete obstruction of the small bronchioles. As a result of infection with pathogenic microflora, purulent inflammation develops. The most common pathogens are staphylococcus and Pseudomonas aeruginosa. The bronchial wall is destroyed. Bronchiectasis and cor pulmonale are formed.

In patients with cystic fibrosis, the chlorine channel on the apical part of the cell membrane “does not work”, leading to a disruption in the release of chlorine from the cell, which contributes to an increased escape of sodium ions from the lumen into the cell, followed by the aqueous component of the intercellular space. The consequence is a thickening of the secretions of the exocrine glands (bronchopulmonary system, pancreas, salivary glands, gonads).

The presence of lung and intestinal diseases, stillbirths, spontaneous abortions in the family. From birth - dry, hacking cough. Early onset of continuously recurrent bronchopulmonary inflammation. Exhaustion and retardation in physical development. Respiratory failure. "Drumsticks".

Keeled protrusion of the sternum. FVD - persistent obstructive and restrictive disorders. Frequently seed Pseudomonas. Pulmonary heart. Almost all patients have excretory pancreatic insufficiency.

Gastrointestinal injury in cystic fibrosis:

1) reflux esophagitis;

2) ulcerative esophagitis;

3) gastritis;

4) duodenitis;

5) biliary reflux;

6) gastric and duodenal ulcer;

7) coprostasis;

8) meconium 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 mellitus.

Diagnostics. Survey plan.

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

Bronchoscopy reveals inflammatory changes and obstruction of the bronchi with purulent secretions.

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. Sputum culture (if possible).

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

Laboratory data: increased chloride content in sweat (repeatedly above 60,0 mmol/l). Identification of a mutant cystic fibrosis gene.

Search group to rule out 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, profuse, oily and fetid stools;

5) chronic diarrhea;

6) prolonged neonatal jaundice;

7) salty skin taste;

8) heat stroke 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 for the exclusion of cystic fibrosis in preschool children:

1) persistent cough with or without purulent sputum;

2) diagnostically unclear recurrent or chronic shortness of breath;

3) retardation in body weight and height;

4) prolapse of the rectum;

5) invagination;

6) chronic diarrhea;

7) a symptom of "drum sticks";

8) salt crystals on the skin;

9) hypotonic dehydration;

10) hypoelectrolytemia and metabolic alkalosis;

11) hepatomegaly or diagnostically unclear liver dysfunction.

Search group to rule out cystic fibrosis in school-aged 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 "drum sticks";

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 unknown etiology.

Search group for ruling out cystic fibrosis in adolescents and adults:

1) purulent lung disease of unclear etiology;

2) a symptom of "drum sticks";

3) pancreatitis;

4) syndrome of distal intestinal obstruction;

5) diabetes mellitus in combination with respiratory symptoms;

6) signs of liver cirrhosis and portal hypertension;

7) stunting;

8) delayed sexual development;

9) sterility with azoospermia in males;

10) reduced fertility in females. Treatment.

Goals of therapy for patients with cystic fibrosis.

1. Supporting the patient’s lifestyle, as close as possible to the life of healthy children.

2. Control of respiratory infections.

3. Ensuring adequate nutrition. Mandatory directions in treatment:

1) physiotherapy exercises (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. Methods:

1) postural drainage;

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

3) active breathing cycle;

4) autogenous drainage;

5) breathing exercises using flutter and PEP-mask.

Sports recommended for patients with cystic fibrosis swimming, running, cycling, skiing, badminton, tennis, tennis, horse riding, yoga, wushu, volleyball, golf, tourism Sports prohibited for patients with cystic fibrosis: skating, weightlifting, football , boxing, hockey, diving, rugby, judo, basketball, motorsports.

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

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

2. Thoroughly blow your nose.

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

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

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

6. Antibiotic inhalation and topical corticosteroid through spacer.

If pulmozyme is used, it is inhaled 30-40 minutes after inhalation of other drugs.

A stepwise approach to the treatment of cystic fibrosis. St. Aureus.

1. Antibiotics for up to 2-4 months. per year, of which 1-2 courses IV or IM (1-2 drugs).

2. PEP therapy. Pseudomonas aeruginosa.

1. Antibiotics - 2-4 courses IV for 14 days (2 drugs) In total, antibiotics up to 4-6 months a year.

2. Hepatotropic drugs.

3. Bacterial preparations. Pseudomonas aeruginosa resist.

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

2. Hepatotropic drugs.

3. Bacterial preparations.

4. Antimycotics in inhalations.

5. NSAIDs.

6. Hormonal preparations.

The life prognosis is determined by respiratory disorders caused by chronic pulmonary infection.

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

Currently used various regimens of oral, inhaled and intravenous antibiotic therapy can prevent or delay the development of chronic lower respiratory tract infection.

Author: Pavlova N.V.

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Summer is a time for relaxation and travel, but often the heat can turn this time into an unbearable torment. Meet a new product from Sony - the Reon Pocket 5 mini-air conditioner, which promises to make summer more comfortable for its users. Sony has introduced a unique device - the Reon Pocket 5 mini-conditioner, which provides body cooling on hot days. With it, users can enjoy coolness anytime, anywhere by simply wearing it around their neck. This mini air conditioner is equipped with automatic adjustment of operating modes, as well as temperature and humidity sensors. Thanks to innovative technologies, Reon Pocket 5 adjusts its operation depending on the user's activity and environmental conditions. Users can easily adjust the temperature using a dedicated mobile app connected via Bluetooth. Additionally, specially designed T-shirts and shorts are available for convenience, to which a mini air conditioner can be attached. The device can oh ... >>

Energy from space for Starship 08.05.2024

Producing solar energy in space is becoming more feasible with the advent of new technologies and the development of space programs. The head of the startup Virtus Solis shared his vision of using SpaceX's Starship to create orbital power plants capable of powering the Earth. Startup Virtus Solis has unveiled an ambitious project to create orbital power plants using SpaceX's Starship. This idea could significantly change the field of solar energy production, making it more accessible and cheaper. The core of the startup's plan is to reduce the cost of launching satellites into space using Starship. This technological breakthrough is expected to make solar energy production in space more competitive with traditional energy sources. Virtual Solis plans to build large photovoltaic panels in orbit, using Starship to deliver the necessary equipment. However, one of the key challenges ... >>

Random news from the Archive PENTAX Stops Production of Compact and SLR Analog Cameras 15.06.2004 According to Pentax, despite the worldwide recognition and uniqueness of PENTAX film cameras, the corporation is ceasing production of both compact and SLR analog cameras. Of the entire line of film cameras, PENTAX will continue to produce exclusively professional medium format photographic equipment. Thus, Pentax Corporation became the first company from the so-called "big five" photo brands, which will fully concentrate on the most relevant line of digital cameras of various classes today (including professional and amateur digital "reflex cameras"), as well as the production of "hybrid photo-video cameras. However, there is still a chance for consumers to purchase film cameras such as the Espio 24EW (a high-end compact camera with a 24-105mm ultra-wide-angle zoom lens) or the Espio 140V (one of the best value for money cameras in its class). And keen photography enthusiasts might want to consider buying film SLRs (such as the *ist model, which has become a hit with high-end amateur DSLRs) and lenses, which will be on sale for about another six months.

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