Cystic Fibrosis

Cystic fibrosis( from Latin "muscus" refers to slime or mucous, "viscidus" is sticky) is a severe congenital disease characterized by the defeat of exocrine glands and causing pathology of respiratory organs and digestive system. Mucoviscidosis often develops in childhood.

A child's cystic fibrosis is manifested when even one of the parents is a carrier of the CFTR gene that has undergone a mutation. Annually in the whole world more than 45,000 children with hereditary pathology of cystic fibrosis are born. This disease is of social importance due to the progressive nature of the course and the possible subsequent deaths, as well as the disability of many patients.

Cystic fibrosis causes

Gene mutation is the absolute basis of this disease. If heterozygous - both parents, then the possibility of producing a sick child with cystic fibrosis in such a family is equivalent to 25%.And the frequency of carriage in genes is 2-5%.

At the end of the last century, genetic scientists deciphered the structure of a gene that is responsible for the combination of a protein. It was called CFTR, which means a cystic fibrosis transmembrane regulator. This protein regulates the movement of electrolytes through the membranes of cells that line the outflow ducts of exocrine glands. And because of the mutation of this gene, there is a disruption of the structures and all functions of the protein, so the secretory fluid that the glands secrete passes into a thick, viscous content. As a result, such important internal organs as the pancreas, gastrointestinal tract and lungs are affected.

The mutation process itself is characterized by the proliferation of a triplet that encodes the amino acid phenylamine. A molecule of a mutated gene having a disorder at position 508 loses its amino acid residue. Thus, the name "Delta 508" appeared. At the moment, more than 120 species of different mutations that are involved in the development of pathologies are already known and studied. Such a huge number of them can be explained in a variety of clinical pictures of cystic fibrosis. A rather serious manifestation of the disease in early periods is observed in patients with homozygotes F 508. And patients who do not have F 508 are distinguished by clinical polymorphism, that is, they simultaneously diagnose severe forms of diseases, early manifestations and adverse outcome with relatively good rates of disease in the elderly andIn adolescence.

Cystic fibrosis symptoms

There are several main forms in cystic fibrosis - pulmonary, intestinal, respiratory and intestinal. Much less common in medical practice is meconium obstruction of the intestine, edematous-anemic and other forms.

The most severe form of manifestation of cystic fibrosis is the mixed form of the disease. She meets in 75% of cases. In the anamnesis of such patients, repeatedly repeated severe types of bronchitis and pneumonia are noted, sometimes even with a prolonged course. The clinical picture of a constant cough, with secreted viscous sputum, frequent violations of the gastrointestinal tract is examined. But unequivocally the most serious changes occur on the part of the respiratory organs. Increased secretion of secretion secretion from the bronchial mucous glands creates its mucostasis and leads to infection, which makes it possible to manifest and progress chronic bronchitis, which results in a characteristic painful cough with hard-to-separate viscous sputum, moreover purulent.

Bronchopulmonary changes are an integral part of impaired patency of the entire bronchial system. Changes that occur as a result of self-cleaning, usually cause clogging of bronchioles and small parts of the bronchi. Emphysema of the lungs develops as a result of the stretching of air spaces, and due to complete blockage of the bronchi, all signs of atelectasis are observed. They can be small, and alternate with foci of emphysema.

In a severe clinical picture, sometimes with such changes, microabscesses appear that often affect the bronchial submucosal glands. Then the lung parenchyma begins to progress in a lightning speed, that is, an acute form of pneumonia is observed, which is different in patients with a severe, prolonged clinic of cystic fibrosis, prone to abscessing.

Periodically, the first manifestations of the pulmonary form of cystic fibrosis can sometimes occur in the second or third year of life, and also at later times. The nature of these manifestations acquires all forms of lingering and severe pneumonia.

Older children are more likely to present a clinical picture of protracted bronchitis with well-defined obstruction. Changes caused by the inflammatory process are manifested by diffuse bronchitis, which very often recurs with various pneumonias of a protracted nature, and then quickly transform into chronic inflammations of the lungs. Then gradually develop bronchiectasis, as well as pneumosclerosis. Interstitial tissue is affected and this is the result of widespread pneumofibrosis. Therefore, in both lungs damp, but more often small bubbling rales are listened to.

Extremely unfavorable for the course of cystic fibrosis is the development of extensive pneumosclerosis and bronchiectasis followed by the formation of a purulent process. All kinds of obstructive changes observed in cystic fibrosis, in the course of progression, lead to an increase in symptoms of emphysema, a pronounced violation of visual breathing and pathologies of development of the small circulation.

In parallel with the underlying disease, deformation of the chest occurs, the terminal phalanges become a kind of tympanic sticks, and heart failure develops as a pulmonary heart.

Piopnevmotorax, pneumothorax and pulmonary hemorrhage are rarely complications of cystic fibrosis. And if the disease is characterized by the duration of the flow, then note nasopharyngeal lesions, which include polyps, adenoids and chronic tonsillitis. Almost all children are diagnosed with sinusitis, in the clinical manifestations of which there is a nasal voice, headaches and secretion of secretion from the nasal passages.

According to the clinical picture of disorders of the intestine, as well as the pancreas, all the symptoms of patients with cystic fibrosis of the main forms of the disease. But the changes that can reduce the activity of the enzymes of the pancreas, especially in children transferred to artificial feeding, may be manifested by insufficient splitting of proteins and fats, as well as by their absorption. Therefore, in the intestine develop rotting processes, which lead to the accumulation of gases and constant bloating. As a result, even with the first examination of the patient, it is possible to assume cystic fibrosis, taking into account a characteristic abundant stool with putrefactive unpleasant odor. Almost 20% of patients have rectal prolapse.

Some of the abdominal symptoms are distinguished by frequent pains in the abdomen of different etiologies. They are of a cramping type with flatulence, pain in the muscles from a prolonged paroxysmal cough in the right hypochondrium, in the region of the liver.

Localization of pain in the epigastric region may occur because the gastric juice is not sufficiently neutralized in the duodenum. This occurs as a result of impaired secretion of the pancreas. Therefore, in a large number of deceased patients who often have negative biochemical results, an autopsy reports cirrhosis of the liver of the biliary type. In patients with cystic fibrosis, an increased appetite is noted, but persistent digestive disorders constantly lead to hypotrophy. Sometimes, but very rarely hypoproteinemic edema develops. The development of hypotrophy is simultaneously promoted by developing hypochloremia, anorexia, and metabolic alkalosis.

Cystic fibrosis in children

Since cystic fibrosis is one of the most common hereditary pathologies for today, the frequency of its occurrence among children of different ages is very high. In addition, his likelihood of development will not be affected in any way by the child's belonging to a certain sex. The disease does not choose - it's a boy or a girl. The main thing to understand is that cystic fibrosis in children develops only by genetic defects. Therefore, no bad habits, social status or environmental problems can be a probability of the birth of children with the pathology of cystic fibrosis.

Children are diagnosed with this disease only when they have two mutant genes that they inherited from their parents. Therefore, in families where the couple, and both, carriers of the gene cystic fibrosis, children with this pathology will be born. But those who inherited from their parents only one species of such a gene, will be considered carriers of cystic fibrosis. Such children will be born absolutely healthy.

Children have a wide variety of clinical manifestations of cystic fibrosis. Some can detect changes in the respiratory system, mainly bronchial and lung diseases, others - severe pancreatic disease. The clinical course of the disease of one type, for each child, can proceed in different ways.

It is important to remember that cystic fibrosis is a genetic pathology that does not affect a child's mental abilities.

In the first months of life of many children, hypotrophy appears while maintaining appetite and only after some time in the feces, as well as polyfeklia, fat is formed, which worries the parents of the baby, so they pay special attention to it.

The baby's skin is a good indication for diagnosis, since it has a "salty" taste. Therefore, with such a complaint, the parents for the first time consult a pediatrician. Perhaps in such children, a sharp form of hypokalemia and metabolic alkalosis due to pronounced electrolyte disturbances will manifest.

In cystic fibrosis, on the part of the respiratory system, cough becomes the first symptom of this disease. At the very beginning, he will manifest himself in the form of "coughing up," then gradually increase and take on the character of a cough as in whooping cough. Children, cyanosis and shortness of breath, can accompany this paroxysmal cough, but there is usually no breath stopping. Excreted sputum when coughing, at the beginning of the disease, light color and not viscous, but later it becomes mucopurulent and acquires a strong viscosity. If there was a greenish sputum, then this is a signal about the appearance in the body of a child of Pseudomonas aeruginosa and its infection with sputum. In many cases, ARVI is often recorded, which are repeated periodically and have protracted currents, as well as a cough that persists for a long time.

In the initial stage of cystic fibrosis, the picture of the disease in auscultation of young children is sometimes normal. Thorough examination of the child makes it possible to detect an enlarged anteroposterior size of the thorax, a slight shortness of breath with little physical exertion and a reduced excursion of the lungs.

On the part of the gastrointestinal tract in children of the first year of life, a frequent liquid stool of a greenish color is revealed, which subsequently becomes greasy. A child with cystic fibrosis has a body weight that does not correspond to healthy peers, that is, lags behind in physical development, and later also in growth. Children with cystic fibrosis who have visual examination have a reduced muscle mass, abdomen bulging outward, and prolapse of the rectum is often a symptom of this pathology.

In addition to the main forms of cystic fibrosis, for example, 15% of newborn patients develop meconium obstruction of the intestine. Symptoms of this type of pathology may be vomiting with bile, the impossibility of divergence of meconium and an enlarged abdomen. Gray meconium is retained in the small intestine, in the ileocecal valve. The most dangerous manifestation of this form of cystic fibrosis is its complication in the form of meconium peritonitis.

The totality of all these pathological processes from the side of respiration, digestion and sweat glands, as a rule, leads to a child's dystrophy. Hypoproteinemia and anasarca in infants occur in a combination of hemolytic anemia. Often such children have a deficiency in fat-soluble vitamins. For example, the cause of bleeding is a deficiency of vitamin K, as a consequence of hypoprothrombinemia.

Children suffering from cystic fibrosis are characterized by a sharp loss of salts in sweating, as a result of heat, frequent inflamed sinuses, which are complicated by polyposis and parotid gland involvement.80% of sick children have an increased sensitivity to various types of allergens, such as food, household and medicinal.

One of the complications of cystic fibrosis in children is celiac disease, but a frequent complication is cholelithiasis.

Cystic Fibrosis Diagnosis

Diagnosis of cystic fibrosis is the basis of chronic bronchopulmonary process, intestinal syndrome, positive swallow test, and cystic fibrosis of siblings. Therefore, to diagnose this pathology, it is sufficient to have any two of these listed characteristics. Certain criteria for the diagnosis of cystic fibrosis have already been developed, which include two diagnostic types.

The first is based on the characteristic clinical symptoms. This can be both a family history of cystic fibrosis and neonatal screening for immunoreactive trypsin of a positive nature.

The second is the increased content of potassium chlorides( more than 60 mmol / l), the identified two mutations, a positive result during the measurement of the difference in nasal potentials. The diagnosis is reliable, even if there is one criterion from each type of diagnosis.

To diagnose cystic fibrosis resort to a number of methods that are quite informative, but also time consuming. For this, it is necessary to determine the concentration of sodium chloride in the sweat, to conduct studies of fecal colic, to make DNA diagnostics, to measure the difference in nasal potentials, to determine the activity of pancreatic elastase in feces.

At present, there is a real opportunity to conduct an antenatal examination of the fetus for the presence of cystic fibrosis, in connection with the available DNA diagnostics. And it is necessary to do this examination to future parents even before pregnancy planning, that is, to determine the presence or absence of a cystic fibrosis gene in the body.

To date, most families who have a sick child with cystic fibrosis, but who have undergone such kind of diagnostics as DNA, have in the future children already quite healthy.

Analysis for cystic fibrosis

There are a number of tests, diagnoses and tests that are used to diagnose cystic fibrosis. In the first months of life in neonates can carry out neonatal diagnostics. This method consists in determining the amount of IRT content in a child's blood.ИРТ is an enzyme of the pancreas. If the child is sick with cystic fibrosis, the analysis on ИРТ will be with an increased index. Such an analysis is done if there are suspicions of cystic fibrosis.

The most effective diagnostic test for cystic fibrosis is a sweat test. The standard procedure is that a skin site is taken for a sweat test, on which ionophoresis with pilocarpine was previously performed. The concentration of NaCL in the secretions of sweat glands should not exceed 40 mmol / l. If the result of the test sample is higher than 60 mmol / l, then it can be considered positive. An important point is the re-analysis. It is done if the answer is positive, doubtful or negative, but the clinical picture suggests the likelihood of having cystic fibrosis.

In order to finally diagnose it is necessary to conduct several such tests, two or three and get a confirmatory positive result.

But sometimes the answers are false. This may be due to inaccurate collection of material and its transportation;Taking a sample from a newborn or a patient taking cloxacillin.

Among the methods of research, there are also coprological methods. Investigating kaproliyu kala patients, you can detect steatorii. This is due to the fact that the duodenum has a low activity or complete absence of pancreatic enzymes in it.

When chest radiography can detect bronchial densities, and also note an increase in airiness of the lung tissue. The radiograph shows signs of a fall in segments of the lung, especially the upper lobe. This is an indicator of cystic fibrosis.

The use of the study of the functions of external respiration makes it possible to determine how much the respiratory system is affected. This examination determines how the bronchi will react to bronchodilators and identify patients for whom the purpose of these medications is reasonable.

For older children, the most informative method for diagnosing a disease is measuring the difference in nasal potentials. Its main task is to find the main defect that causes the development of cystic fibrosis. Indicators are taken from the nasal mucosa and from the skin of the forearm.

Two more types of analysis can be noted - genetic and prenatal. The first is quite expensive analysis, and the second is DNA diagnostics.

Treatment of cystic fibrosis

At the moment, medicine is powerless in the complete cure of cystic fibrosis. Scientists of many countries are working on the development of drugs at the cellular level, but, unfortunately, a positive result so far can not be achieved. Doctors can only hope that someday this disease will be completely cured. The most relevant method of treatment could be "gene therapy," which would be responsible for delivering healthy copies of a mutated gene to diseased cells. But these are only assumptions and try to treat hereditary pathology with known methods.

The basis for the treatment of cystic fibrosis is a stepwise approach to this disease. Most importantly, it is necessary to create a favorable environment, assign a certain diet with the addition of enzymes, conduct physiotherapy and provide the patient with adequate physical activity.

For successful outcome of therapy, it is necessary to observe in a highly qualified dispensary and moral support from close people.

Therapeutic approach to the treatment of a patient must be carried out exclusively individually and continuously. To do this, it is important to stop the infectious process occurring in the respiratory system in time. Then restore the airway and clearing function of the bronchi. And at the end of treatment, adjust the deficiency of enzymes in the pancreas.

The process of treatment of pulmonary diseases includes such measures that reduce the viscosity of sputum and improve the drainage of the bronchi, as well as antibiotic therapy, treatment of intoxication, hypoxia, hypovitaminosis and heart failure.

To reduce the viscosity of sputum, enzymatic preparations such as Hymopsin, Chymotrypsin, Fibrinolysin, or mucoletic drugs are prescribed. Tablets Mukosolvin taken inside, and intramuscularly - Acetylcythetein. You can use both Bromhexine and Muciltin, but they have a weak diluting effect. For a good drainage of the bronchi, massage of the thoracic area of ​​the lungs and therapeutic gymnastics are necessary. Infants, using an electric pump, produce sputum. Each patient should have a compressor inhaler, with which it is possible to introduce an effective drug Pulmozim.

If lung diseases are in the process of exacerbation, then resort to the appointment of antibiotic therapy course for 3-4 weeks. To do this, they must make an antibioticogram, but if it is impossible to determine, then for the purpose of the drugs are taken pathogens cystic fibrosis - Pseudomonas aeruginosa and staphylococcus.

Simultaneously with antibacterial drugs, antihistamines and antimicrobials are prescribed. At the time of exacerbation of the disease, UHF therapy and magnesium electrophoresis are done. To reduce hypertension of the lung, Euphyllin is prescribed in tablets at 7-10 mg / kg per day. To improve the metabolism of the myocardium, the purposes of Cocarboxylase and Potassium Orotate are shown. With a pulmonary heart, they take Digoxin, Glucocorticotids( 1-1.5 mg / kg per day).

In the treatment of intestinal syndrome patients are prescribed new enzyme preparations coated with a coating and resistant to acidic environment - Pancitrat and Creon, which are more effective than Mezim-forte, Festal or Panzinorm. In patients with cystic fibrosis, these medicines must be taken throughout life, and dosage is prescribed strictly individually for each patient. Adequate pain in the abdomen, a normalized stool and a lack of neutral fat in examining feces for scatology are considered sufficient for the enzyme to be taken.

Regardless of the generalized process and the changes that occur in many organs and systems, dispensary observation of sick children by a district doctor and a pulmonologist is mandatory. In addition, parents should learn how to take care of a sick child, carry out their own massages, therapeutic gymnastics and aerosol therapy. Clinical follow-up is necessary to control the functions of the bronchi, lungs, heart, digestive tract, liver, kidneys and proper reception of enzyme preparations, for the timely provision of medical care for exacerbations of the disease, for general restorative therapy, and for mandatory relief of chronic infections.

Most children with cystic fibrosis are on outpatient care, where the child will be fully provided with home care, and the relapse of infections can be ruled out. Only with severe forms of the disease is usually hospitalized patients. This refers to respiratory failure of II-III degree, decompensation of the pulmonary heart and hemoptysis. Meconial ileus, as well as intestinal obstruction, in which conservative treatment is not effective, is an indication for surgical intervention.

It can also be noted that there are more radical methods for treating cystic fibrosis, where they consider organ transplantation according to vital signs. This is mainly practiced in clinics in Germany, Canada and the United States. It is these operations that help some patients with hereditary pathology to survive and live long enough.

There are, of course, unconventional methods of treatment. But they are more auxiliary and are applied against the background of the main one.

Children who have mild to moderate intestinal cystic fibrosis can receive treatment in a sanatorium. If it is possible to create special groups for pulmonary forms of the disease, it is also useful for such children to take sanatorium treatment. Criteria for the selection of patients for this type of treatment are compensated intestinal disorders after taking enzyme preparations, absent violations in the pulmonary heart and all kinds of inflammatory processes.

It is not recommended for sick children with cystic fibrosis to be in kindergartens and manger. But you can only go to school in good or satisfactory condition, but you must still have an extra day off among the week. During the examination or treatment, such children are completely exempted from attending school lessons and passing all examinations.

All children diagnosed with cystic fibrosis are on a health check-up for life. The only thing is that at the age of 15 they are transferred to the observation account, to the therapist.