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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 patency. A frequent monogenic disease caused by a mutation of the cystic fibrosis gene, characterized by lesions of the exocrine glands, vital organs and systems, and usually with 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 by an autosomal recessive type, 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 Pseudomonas aeruginosa. 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 withdrawal 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. In almost all patients, excretory pancreatic insufficiency. The defeat of the digestive tract with 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. Diagnostics. 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 secret. 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 chloride content 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) loose, plentiful, 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 "drumsticks"; 8) salt crystals on the skin; 9) hypotonic dehydration; 10) hypoelectrolytemia and metabolic alcoholism; 11) hepatomegaly or diagnostically unclear liver dysfunction. Group to exclude cystic fibrosis in school-age children: 1) chronic respiratory symptoms of unknown etiology; 2) pseudomonas aeruginosa in sputum; 3) chronic sinusitis; 4) nasal polyposis; 5) bronchiectasis; 6) the symptom of "drumsticks"; 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. Treatment.
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. Techniques: 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 PEP-mas- ki 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. 5 minutes before inhalation, take 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 lung 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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- Cystic fibrosis
Cystic fibrosis (MB), or cystic fibrosis of the pancreas, is a universal genetically determined exocrinopathy, the most common hereditary disease of childhood. This is an inherited disease with an autosomal recessive type of transmission, occurring with a primary lesion of the respiratory organs and the gastrointestinal tract, which is based on the pathology of the exocrine glands,
- MUCOVISCIDOSIS (CYSTIC FIBROSIS)
Harvey R. Kolten (Harvey R. Gotten) Cystic fibrosis is a hereditary disease characterized by multiple organ lesions due to dysfunction of the exocrine glands. Almost all patients with cystic fibrosis develop chronic progressive lesion of the bronchopulmonary system, which is the main cause of death. In 85% of patients reveal pancreatic insufficiency (exocrine
- Cystic fibrosis
Pathophysiology Cystic fibrosis is a hereditary disease of the exocrine glands, which mainly affects the lungs and the gastrointestinal tract. The accumulation of an extremely thick and viscous secretion in the tracheobronchial tree in combination with a reduced activity of the ciliary epithelium is the cause of pneumonia, wheezing and bronchiectasis. In the study of respiratory function
- Malformations of the pancreas
Hypoplasia (ICD-10: Q45.0), ectopia (ICD-10: Q45.8) of the pancreas are accompanied by impaired exocrine function in combination with or without endocrine disorders. Early adherence to symptoms of a fat-soluble vitamin deficiency is characteristic. The diagnosis is based on abdominal ultrasound, determining the activity of elastase in the feces, data from a coprological study and a lipid profile of the feces.
- Cystic fibrosis
Cystic fibrosis is the most common cause of progressive chronic respiratory disorders in children and is responsible for a significant proportion of deaths from chronic respiratory failure, and during acute pneumonia, and from acute respiratory failure. Cystic fibrosis is a universal endocrinopathy. The following clinical forms are distinguished.
- RESPONSE TO SITUATIONAL TASKS
Diagnosis: Cystic fibrosis, mixed form. Secondary obstructive bronchitis. Postnatal malnutrition II degree of severity, constitutional. Delayed psychomotor development. Anemia mild mixed etiology. The presented case demonstrates typical manifestations of a mixed form of cystic fibrosis in a child during the first months of life: a small weight gain with satisfactory
- Endocrine pancreatic insufficiency
Cystic fibrosis of the pancreas (cystic fibrosis) is a hereditary disease with a recessive mode of inheritance. The frequency in the population 2-8: 100 000 population. 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.
- Breast childhood
1. Characteristics of a large fontanelle include: 1. size 2. level 3. nature of edges 4. hair 5. skin color above a spring 2. For cystic fibrosis the following clinical forms are most characteristic: 1. edematous 2. mixed pulmonary-intestinal 3. mainly pulmonary 4. mainly intestinal 5. meconial ileus 3. What disease is steatorrhea typical for? one.
- AUTOSOMANO-RECESSIVE DISEASES
Among the autosomal recessive diseases, cystic fibrosis (cystofibrosis of the pancreas) is the most common. Its frequency among newborns in the European population is 1: 2500. The disease is caused by a generalized lesion of the exocrine glands. The cystic fibrosis gene is located on the 7th chromosome. This gene controls protein synthesis, called the transmembrane regulator.
- HEREDITARY DISEASES WITH UNBINDED PRIMARY BIOCHEMICAL DEFECT
The overwhelming majority of monogenic hereditary diseases are diseases with an unknown primary biochemical defect. For many of them, certain metabolic disturbances in the body are established at the level of pathological metabolites; however, the place of detectable biochemical deviations in the pathogenesis of the disease or the sequence of deviations remains unclear. In other cases there is no information about
- Differential diagnostics
With a characteristic clinical and radiological picture, the question of differential diagnosis arises in the absence of the expected response to treatment and the torpid course. In these cases, tuberculosis, the “old” foreign body of the bronchus, allergic alveolitis, pulmonary hemosiderosis, as well as chronic disease (cystic fibrosis, malformation of the bronchus and
- Anesthesia for lung transplantation
General information Transplantation is indicated in the terminal stage of parenchymal lung diseases or in pulmonary hypertension, when respiratory insufficiency is compensated and the prognosis is unequivocally unfavorable. Criteria vary according to the nature of the disease. The most common diseases in which lung transplantation can be shown are presented in Table. 24-5.
- Mounier-Kun syndrome
The clinical picture. From an early age cough with sputum, repeated exacerbations of bronchopulmonary disease, increase in respiratory failure during the period of exacerbation and with age. Deformation of the nail phalanxes in the form of "drum sticks". Radiological signs: deformation of the pulmonary pattern with areas of consolidation. The expansion of the lumen of the trachea and large bronchi. Bronchiectasis in the inferior
- Bronchial asthma
DIAGNOSIS The severity of an attack of bronchial asthma is assessed by clinical symptoms and a number of functional parameters (Table 4). DIFFERENTIAL DIAGNOSIS Should be carried out with obstructive bronchitis, cystic fibrosis, aspiration of foreign bodies, organophosphate poisoning, anaphylactic shock, etc. Before proceeding with urgent measures,