Cystic fibrosis is curable or not. Cystic fibrosis - what kind of disease? Treatment of pulmonary cystic fibrosis

Hereditary gland disease internal secretion, as well as the pancreas and liver, characterized primarily by damage to the gastrointestinal tract and respiratory organs. The pathogenesis of cystic fibrosis involves hereditary damage to the exocrine glands, glandular cells of the body, secreting cells of the bronchi, pancreas, intestines, liver (biliary function), sweat glands. What is common in the pathology of all exocrine glands is a disruption of the process of transport of chlorides through membranes epithelial cells. This process is accompanied by excessive release of chlorides, resulting in hypersecretion thick mucus in the cells of the endocrine part of the pancreas, bronchial epithelium, and mucous membrane of the gastrointestinal tract, which is accompanied by a violation of their secretion.

This disorder leads to stagnant-obstructive changes in the relevant organs with subsequent inflammatory and sclerotic changes. In the excretory secretions of the body in cystic fibrosis, the following is observed:

• change in the ratio of fractions of protein-carbohydrate components;
• there is a decrease in the resorption of electrolytes in the excretory ducts of the sweat glands;
• the pancreas does not secrete the required amount of enzymes.

Cystic fibrosis is one of the most common hereditary diseases. It is caused by mutations in the transmembrane conductance regulator gene, part of which forms the chloride channel.

The gene is called CFTR (cystic fibrosis transmembrane conductance regulator). As a result of the mutation, the pulmonary epithelium is defective in this regulator. This leads to chronic infections, inflammation and gradual destruction (derangement) breathing apparatus. Some mutations in the KFTR gene lead to a decrease in the synthesis of the KFTR protein due to incomplete RNA processing, others lead to qualitative changes in membrane chloride channels. One primary biochemical abnormality (impaired chloride transport) causes the emergence of a multi-organ pathological process (progressive lesion respiratory tract, chronic sinusitis, insufficiency of exocrine secretory function of the pancreas, sterility in men).

Incidence of cystic fibrosis

Cystic fibrosis occurs in an average of 1 in 2,000 to 3,000 newborns, and in black African and Japanese populations the incidence is 1 in 100,000. Cystic fibrosis is a systemic hereditary disease, usually presenting in childhood, although 4% of cases are diagnosed in adulthood. Cystic fibrosis is inherited in an autosomal recessive manner. The prevalence of the disease varies greatly among different ethnic groups. Among the white population of North America and northern Europe, cystic fibrosis occurs in 1 in 3,000 live newborns, while in American blacks it occurs in 1 in 17,000, and among Polynesians living in Hawaii only 1 in 90,000.

Since antibiotics and enzyme preparations began to be used to treat cystic fibrosis, the life expectancy of patients has increased. Now almost 34% of them reach mature age and approximately 10% of patients live more than 30 years. The average life expectancy is 28 years. So, cystic fibrosis can no longer be considered a childhood disease. Every therapist should be able to recognize and treat it. Cystic fibrosis manifests itself as chronic lung infections, which ultimately lead to bronchiectasis, insufficiency exocrine function pancreas, dysfunction of the sweat glands, kidneys and gastrointestinal tract, as well as infertility.

Symptoms of cystic fibrosis

Most symptoms of cystic fibrosis are caused by thick, sticky mucus. The most common symptoms of cystic fibrosis include:

• frequent coughing with sputum;
• frequent attacks of bronchitis and pneumonia, they can lead to inflammation and temporary damage to the lungs;
• salty taste of leather;
• dehydration, diarrhea, or bad-smelling, greasy stools;
• good appetite, but underweight;
• violation of height growth - a person stops growing, because does not receive necessary nutrients;
• stomach pain and discomfort, because a large amount of gas accumulates in the intestines;
• impotence.

Cystic fibrosis can lead to the following disorders. Sinusitis: Sinuses are sinuses that are located in the bones of the skull near the nose. The sinuses produce mucus, which moistens the inside of the nose. When inflammation occurs in the sinuses, they are blocked by mucus and bacteria multiply in them. Many people with cystic fibrosis develop sinusitis. Nasal polyps may require surgery. Bronchial diseases: Any infection can cause serious damage to the bronchi. If left untreated, bronchial diseases can lead to respiratory failure. Pneumothorax is a lesion of the lungs. Pancreatitis: This is a painful inflammation of the pancreas. . Thickening of the fingers: This occurs because the lungs do not allow enough oxygen to enter the blood stream. Rectal prolapse: If you cough frequently or have problems with bowel movements, tissue from the inner wall of the rectum may protrude from the rectum. Liver disease associated with inflammation or blockage of bile ducts. Diabetes. Formation of stones in the gall bladder. Brittle bones due to lack of vitamin D.

Treatment of cystic fibrosis

The diet of a patient with cystic fibrosis should be age-appropriate, contain an increased amount of protein by 10-15% and normal amount fats and carbohydrates. At the same time, only easily digestible fats (butter and vegetable oil) are included in the diet. Food should not contain coarse fiber. In children with secondary lactase deficiency, milk is excluded. With pronounced intestinal syndrome and symptoms caused by insufficiency of various vitamins, parenteral vitamins are prescribed. In case of intestinal syndrome, enzyme preparations are used for replacement purposes: patients with cystic fibrosis need to take new microspherical enzymes with an acid-resistant shell - Creon or Pancitrate, which are more effective than such well-known forms as Panzinorm, Mezim-Forte, Festal. The drugs are taken throughout life, with every meal. The dose of the enzyme depends on the severity of the disease and is selected individually. The criteria for dose sufficiency are the disappearance of abdominal pain, normalization of stool, absence of neutral fat during scatological examination, and normalization of weight. Enzyme preparations are taken with meals.

Treatment of pulmonary syndrome includes measures to reduce the viscosity of sputum and improve bronchial drainage, antibacterial therapy, combating intoxication and hypoxia, hypovitaminosis, and heart failure. To reduce the viscosity of sputum, inhalations are used enzyme preparations(chymopsin, chymotrypsin, crystalline fibrinolysin) or mucolytic drugs, acetylcysteine, mucosolvin. To thin the sputum, acetylcysteine ​​and mucosolvin can be administered intramuscularly, and mucosolvin can also be administered orally. Bromhexine and mucaltin have a weaker diluting effect. To improve bronchial drainage, vibration massage of the chest, therapeutic exercises, postural drainage are performed in children. early age sputum is removed with an electric suction device. In case of exacerbation of the pulmonary process, antibacterial therapy is prescribed for at least 3-4 weeks. Antibiotics are selected taking into account the antibiogram, but if this study is not possible, then they are based on the fact that the most common pathogens inflammatory process in the lungs of patients with M. are staphylococcus and Pseudomonas aeruginosa.

Along with antibiotics, antifungal drugs (nystatin, chevorin) and antihistamines are used. During the period of exacerbation, UHF and microwave therapy are also carried out. and then electrophoresis of sodium and magnesium preparations (calcium preparations are contraindicated, because they increase pneumosclerosis); multivitamins are prescribed to reduce pulmonary hypertension- aminophylline 7-10 mg/kg body weight per day orally (dose divided into 3 doses) for 4-5 weeks. from the onset of exacerbation. Drugs that improve myocardial metabolism are indicated: potassium orotate, cocarboxylase. For decompensation of the pulmonary heart, cardiac glycosides (digoxin), glucocorticoids are used (1-1.5 mg/kg per day in terms of prednisolone, taking into account circadian rhythm adrenal glands for 3-4 weeks). Glucocorticoids in the same dose are prescribed for the rapid progression of pneumosclerosis, and for chronic adrenal insufficiency that has developed as a result of purulent intoxication and hypoxia - at a dose of 0.4 mg/kg per day for prednisolone, taking into account the circadian rhythm.

Treatment of cystic fibrosis in children

Children with cystic fibrosis are under the dispensary supervision of a local doctor and pulmonologist, because, despite the generalization of the process and changes in many organs and systems, damage to the respiratory system is observed in the majority of patients and it is this that determines the severity and prognosis of the disease. Parents should be trained in patient care and treatment methods such as massage, therapeutic exercises, and aerosol therapy. The objectives of dispensary observation are monitoring the functional state of the bronchopulmonary, cardiovascular systems, gastrointestinal tract, kidneys, liver and the correct dose of enzyme preparations, timely treatment during exacerbation of the disease, conducting restorative therapy, and in the period of remission - sanitation of foci of chronic infection.

Treatment is carried out on an outpatient basis and at home, where the child can be provided with individual care and reinfection can be excluded. Only in cases of severe condition or complications is hospitalization indicated. Intensive care performed in patients with respiratory failure II-III degrees, with decompensation of the cor pulmonale, with pleural complications, destruction of the lungs, hemoptysis. Surgery is indicated for meconium obstruction, in the absence of effect from conservative therapy for intestinal obstruction in older children, sometimes with destruction in the lungs. For bronchiectasis, surgical treatment is not recommended, because the process is always common. Children with cystic fibrosis receive all medications for outpatient treatment free of charge.

Children with mild and moderate intestinal forms of cystic fibrosis are recommended sanatorium treatment. For children with pulmonary cystic fibrosis, sanatorium treatment is useful if it is possible to create special groups. Patients with cystic fibrosis are recommended to be referred to local sanatoriums. The selection criteria for the sanatorium are compensation intestinal disorders when prescribing enzyme preparations, there is no decompensation of the cor pulmonale and no inflammatory process in the lungs. Stay of patients with cystic fibrosis in children's preschool institutions inappropriate. Attending school in good and satisfactory condition is possible, but an additional day off per week and free attendance at school on days of treatment and examination at the clinic (at the pulmonology center), and exemption from exams are required. The question of the possibility of vaccinations for children with cystic fibrosis is decided individually. Children with cystic fibrosis are not removed from the dispensary register, but upon reaching the age of 15 are transferred under the supervision of a therapist to a clinic for adults.

Questions and answers on the topic "Cystic fibrosis"

Question:My son is 2.8 and weighs 13,400. Since the age of one year, I have had problems with stool - sometimes mushy, sometimes constipated (when there is constipation, blood appears in the stool). The coprogram contains neutral fats in moderate or large quantities, soaps, fatty acids, iodophilic flora, Giardia. The skin has a yellowish tint, especially the hands and feet. Blood biochemistry is all within normal limits. The pediatrician and gastroenterologist blame everything on lamblia and age-related immaturity of the pancreas, and do not see a problem. Tests for antibodies to hyadin and tissue transglutaminase are within normal limits. Do I still need to be tested for cystic fibrosis? The youngest child (1.3) has the same problem.

Answer: A study to diagnose cystic fibrosis should be carried out in children with recurrent bronchopulmonary diseases, as well as underweight and steatorrhea. This means that your child needs to be tested to rule out cystic fibrosis. And if the younger child’s test results are similar and the weight gain is insufficient, then he also needs to have this study done.

Question:Hi all! My question is: can cystic fibrosis suddenly develop in an adult? What is the reason for its appearance and how scary it is.

Answer: Cystic fibrosis can make itself felt at any age. It all depends on mutations. Severe mutations make the disease known from the first days of life.

Question:What is the life expectancy of patients with cystic fibrosis?

Answer: Forty years ago, when doctors still knew little about the disease and there was no cure for it, most people suffering from cystic fibrosis did not live to see 5 years of age. Now average duration The lifespan of such patients in Europe is 50 years or more, in Russia - from 25 years and above.

Question:Hello! Maybe you can help! The child is 9 months old, phlegm collects all the time, it flows out either into a cough or a runny nose! It's already three months! We were already in the hospital, the x-rays were clear, they suspected electasis. The diagnosis was laryngotracheitis and bronchitis. I was discharged, but I still have a cough and noisy breathing. According to blood tests, the child is not sick, all indicators are normal. Negative for chlamydia and mecaplasma, negative for whooping cough. It started after the summer, he wheezes all the time, phlegm rises in the throat, sometimes he coughs it up, sometimes he doesn’t. And the snot, sometimes flowing, sometimes thick! And he doesn’t seem to be sick! What could it be, and which doctor should I go to?

Answer: You should definitely consult an allergist, perhaps this cough- allergy phenomena. You also need to take a stool test for the Shwachman test to rule out cystic fibrosis.

Question:My daughter has cystic fibrosis. She is 1.5 years old. Intestinal-pulmonary form. From birth we take "Creon 10000" 7,500 thousand 3 times a day. She has frequent bronchitis. Full recovery within 2-3 weeks. Now a geneticist prescribed the drug “Pulmozyme” to us. He has a huge list of heavy side effects and there is virtually no data on the tolerability of the drug in children under 5 years of age. Is its prescription justified at this stage: there is no deterioration in health, the child is active, he has never had pneumonia, bronchitis occurs often. Are we entitled to disability? Doctors on the ITU commission say that if there is no trend for the worse, then we are not entitled to disability by law. Is it so?

Answer: Typically, Pulmozyme is prescribed to patients with cystic fibrosis as a symptomatic therapy. Outside of exacerbations (bronchitis, pneumonia), this drug is not prescribed. As for disability, according to the laws of the Russian Federation, children with a confirmed diagnosis of cystic fibrosis should receive the status of disabled children.

Question:Is it possible to diagnose cystic fibrosis in the presence of trypsin in stool and fecal elastase of 170.3 mcg?

Answer: Cystic fibrosis is a rather complex disease. Such a diagnosis cannot be made based on one test result. If muscovystic fibrosis is suspected, a comprehensive examination is carried out, which includes: Assessment of general health and development. The presence of long-term diseases (respiratory organs, pancreatitis, cholecystitis, colitis); Sweat test (iontophoresis is performed with the drug pilocarpine); Determination of chymotrypsin levels and fatty acids in the stool; DNA diagnostics. Only after comprehensive survey the doctor may make a diagnosis such as cystic fibrosis. In your case, I recommend contacting your local doctor, who will necessary examination and will be able to prescribe treatment.

Cystic fibrosis in children is caused by a faulty gene that controls how the body absorbs salt. When you get sick, too much salt and not enough water enters the body's cells.

This turns the fluids that normally lubricate our organs into thick, sticky mucus. This mucus blocks the airways in the lungs and clogs the lumens of the digestive glands.

The main risk factor for developing cystic fibrosis is a family history of the disease, especially if one of the parents is a carrier. The gene that causes cystic fibrosis is recessive.

This means that in order to have the disease, children must inherit two copies of the gene, one each from mom and dad. When a child inherits only one copy, he or she does not develop cystic fibrosis. But that baby will still be a carrier and can pass the gene on to his offspring.

Parents who carry the cystic fibrosis gene are often healthy and have no symptoms of the disease, but will pass the gene on to their children.

In fact, it is estimated that up to 10 million people may be carriers of the cystic fibrosis gene and not know it. If mom and dad have a defective cystic fibrosis gene, then they have a 1:4 chance of having a child with cystic fibrosis.

Symptoms

Signs of cystic fibrosis are varied and may change over time. Symptoms usually first appear in children at a very early age, but sometimes they appear a little later.

Although this disease causes a number of serious problems health-wise, it mainly causes damage to the lungs and digestive system. Therefore, the pulmonary and intestinal forms of the disease are distinguished.

Modern diagnostic methods can detect cystic fibrosis in newborns using special screening tests before any symptoms appear.

1. 15–20% of newborns with cystic fibrosis have meconium ileus at birth. This means that their small intestine becomes clogged with meconium, the original stool. Normally, meconium passes without any problems. But in babies with cystic fibrosis it is so dense and dense that the intestines simply cannot remove it. As a result, the intestinal loops become twisted or do not develop properly. Meconium can also clog colon, and in this situation the child will not have a bowel movement for a day or two after birth.
2. Parents themselves may notice some signs of cystic fibrosis in newborns. For example, when mom and dad kiss a baby, they notice that its skin tastes salty.
3. The child is not gaining enough body weight.
4. Jaundice may be another early sign of cystic fibrosis, but this symptom is not reliable as many babies develop the condition immediately after birth and usually go away within a few days on their own or with the help of phototherapy. It is more likely that jaundice in this case is associated with genetic factors, and not with cystic fibrosis. Screening allows doctors to make an accurate diagnosis.
5. The sticky mucus produced by this disease can cause serious damage to the lungs. Infections are common in children with cystic fibrosis chest cavity, because this thick liquid forms fertile ground for the development of bacteria. Any child with this disease suffers from a series of severe coughs and bronchial infections. Severe wheezing and shortness of breath are additional problems that babies suffer from.

   Although these health problems are not unique to children with cystic fibrosis and can be treated with antibiotics, the long-term consequences are serious. Eventually, cystic fibrosis can cause such damage to a child's lungs that they cannot work properly.

6. Some children with cystic fibrosis develop polyps in their nasal passages. Babies may have severe acute or chronic sinusitis.
7. The digestive system is another area where cystic fibrosis becomes a major cause of damage. Just as sticky mucus blocks the lungs, it also causes comparable problems in various parts of the gastrointestinal system. This interferes with the smooth passage of food through the intestines and the system's ability to digest nutrients. As a result, parents may notice that their child is not gaining weight or growing normally. The baby's stool smells bad and appears shiny due to poor digestion of fats. Children (usually over four years old) sometimes suffer from intussusception. When this happens, one part of the intestine invades another. The intestines telescopically fold in on themselves, like a television antenna.
8. The pancreas is also affected. Often inflammation develops in it. This condition is known as pancreatitis.
9. Frequent coughing or difficult stools sometimes cause rectal prolapse. This means that part of the rectum protrudes or protrudes from the anus. Approximately 20% of children with cystic fibrosis experience this condition. In some cases, rectal prolapse is the first noticeable sign of cystic fibrosis.

Thus, if a child has cystic fibrosis, he may have the following manifestations and symptoms, which can be either mild or severe:

Diagnostics

When symptoms begin to appear, cystic fibrosis is not the first diagnosis a doctor makes in most cases. There are many symptoms of cystic fibrosis, and not every child has all the signs.

Another factor is that the disease can vary from mild to severe in different children. The age at which symptoms appear also varies. Some were diagnosed with cystic fibrosis in infancy, while others were diagnosed as adults. If the disease is mild, the child may not develop problems until adolescence or even adulthood.

Passing genetic tests during pregnancy, parents can now find out whether their unborn children may have cystic fibrosis. But even when genetic tests confirm the presence of cystic fibrosis, there is still no way to predict in advance whether a given child's symptoms will be severe or mild.

Genetic testing can also be done after the baby is born. Because cystic fibrosis is hereditary, your doctor may suggest testing your baby's siblings even if they don't have any symptoms. Other family members, especially cousins, should also get tested.

A baby is usually tested for cystic fibrosis if it is born with meconium ileus.

Sweat test

After birth, the standard diagnostic test for cystic fibrosis is the sweat test. This is an accurate, safe and painless diagnostic method. The study uses a small electrical current to stimulate sweat glands the drug pilocarpine. This stimulates sweat production. Within 30 to 60 minutes, the sweat is collected on filter paper or gauze and checked for chloride levels.

A child must have a sweat chloride result greater than 60 on two separate sweat tests to be diagnosed with cystic fibrosis. Normal values sweat for babies below.

Determination of trypsinogen

The test may not be informative in newborns, since they do not produce enough sweat. In this case, another type of test, such as immunoreactive trypsinogen, may be used. In this test, blood taken 2 to 3 days after birth is analyzed for a specific protein called trypsinogen. Positive results should be confirmed by sweat testing and other studies. Additionally, a small percentage of children with cystic fibrosis normal levels sweat chloride. They can only be diagnosed using chemical tests for the presence of the mutated gene.

Some of the other tests that can help diagnose cystic fibrosis are chest x-rays, pulmonary function tests, and sputum tests. They show how well the lungs, pancreas and liver are working. This helps determine the extent and severity of cystic fibrosis once it is diagnosed.

These tests include:

Treatment of cystic fibrosis in children

1. Since cystic fibrosis genetic disease, the only way to prevent or cure it is the use of early achievements genetic engineering. Ideally, gene therapy can repair or replace a defective gene. At this stage of scientific development, this method remains unrealistic.
2. Another treatment option is to give it to a child with cystic fibrosis. active form a protein product that is not enough or not in the body. Unfortunately, this is also not feasible.

So at present neither gene therapy nor any other radical treatment Cystic fibrosis is unknown to medicine, although drug-based approaches are being studied.

In the meantime, the best doctors can do is relieve the symptoms of cystic fibrosis or slow the progression of the disease to improve the child's quality of life. This is achieved through antibiotic therapy combined with procedures to remove thick mucus from the lungs.

Therapy is tailored to the needs of each child. For children whose disease is very advanced, lung transplantation may be an alternative.

Previously, cystic fibrosis was fatal disease. More advanced treatments developed over the past 20 years have increased average term life of people with cystic fibrosis up to 30 years.

Treatment of lung diseases

The most important area of ​​treatment for cystic fibrosis is the fight against difficulty breathing, which causes frequent lung infections. Physiotherapy, physical exercise and medications are used to relieve mucous blockage in the airways of the lung.

These medications include:

• bronchodilators, which widen the airways;
• mucolytics, which thin out mucus;
• decongestants, which reduce swelling in the airways;
• antibiotics to fight lung infections. They can be given orally, in aerosol form, or administered by injection into a vein.

Treatment of digestive problems

Digestive problems with cystic fibrosis are less severe and easier to control than pulmonary problems.

Balanced, high calorie diet low in fat and high in protein and pancreatic enzymes that aid digestion.

Supplementation of vitamins A, D, E and K is indicated to provide good nutrition. Enema and mucolytic agents are used to treat intestinal obstructions.

When you are told that your child has cystic fibrosis, what you need to do is additional measures to ensure that the newborn is getting the necessary nutrients and that the airways remain clear and healthy.

Feeding

To help proper digestion, you will need to give your baby an enzyme supplement as prescribed by your doctor at the beginning of each feeding.

Since young children eat frequently, you should always carry enzymes and baby food with you.

Signs that your child may need enzymes or an enzyme dose adjustment include:

• inability to gain weight despite a strong appetite;
• frequent, greasy, unpleasant-smelling stools;
• bloating or gas.

Children with cystic fibrosis need more calories than other children in their age group. The amount of extra calories they need will vary depending on each baby's lung function, level of physical activity and severity of the disease.

A child's caloric needs may be even higher during illness. Even a mild infection can significantly increase your caloric intake.

Cystic fibrosis also interferes with the normal function of the cells that make up the skin's sweat glands. As a result, babies lose large amounts of salt when they sweat, leading to a high risk of dehydration. Any additional salt intake should be dosed as recommended by a specialist.

Education and development

You can expect the child to develop as normal. When the baby goes to kindergarten or school, he may receive an individualized education plan in accordance with the Individuals with Disabilities Education Act.

The individual plan ensures that the child can continue his education if he becomes ill or hospitalized, and also includes necessary measures when visiting an educational institution (for example, providing additional time for a snack).

Many children with cystic fibrosis continue to enjoy their childhood and grow up to lead fulfilling lives. As the child grows up, he may require many medical procedures and may need to be hospitalized from time to time.

The child should be encouraged to be as active as possible. Your child may need extra help from parents to adjust to school and Everyday life. Transition from childhood to adult life It can also be challenging as the child must learn to manage cystic fibrosis on their own.

Above all, children with cystic fibrosis and their families must remain positive. Scientists continue to make significant strides in understanding the genetic and physiological disorders in cystic fibrosis, in the development of new treatment approaches such as gene therapy. There is prospect for further improvement of care for patients with cystic fibrosis and even discovery of treatment!

Cystic fibrosis is a genetic disease that is inherited. A special gene has been isolated - the cystic fibrosis gene. Every twentieth person on the planet has a defect (mutation) in this gene, and such a person is a carrier of the disease. The disease occurs in a child if he received a gene with a mutation from both parents. In this case they do not play any role ecological situation, parental age, smoking, parental intake alcoholic drinks, any medications, stress during pregnancy. Cystic fibrosis is equally common in boys and girls.
Married couples who are carriers of a defective gene should know that they may have healthy child. The probability of having a sick baby in such a couple is only 25% during each pregnancy.

Manifestations of cystic fibrosis in children of the first year of life

At birth, 20% of children have cystic fibrosis with signs of intestinal obstruction. This condition is called meconium ileus. It develops as a result of impaired absorption of sodium, chlorine and water in the small intestine. As a result, the digestion process is disrupted and, as a result, the small intestine becomes clogged with thick and viscous meconium (original feces). With rare exceptions, the presence of meconium ileus indicates cystic fibrosis.
Prolonged jaundice after birth it is detected in 50% of children with meconium ileus. However, it can itself be the first sign of the disease. Jaundice develops due to thickening of bile, which makes its outflow from the gallbladder difficult.
In the first year of life infant, a patient with cystic fibrosis, has a persistent dry cough. The glands of the mucous membrane lining the respiratory tract produce large amounts of viscous mucus, which, accumulating in the bronchi, closes their lumen and prevents normal breathing. Since the mucus stagnates, pathogenic microorganisms begin to multiply in it, which causes purulent inflammation. Therefore, such children often have bronchitis and pneumonia. If the manifestations of cystic fibrosis are dominated by disorders of the respiratory system, then they speak of a pulmonary form of the disease.
The baby often has a delay in physical development - the child does not gain weight, his subcutaneous fat tissue is very poorly developed, and there is a noticeable lag in growth compared to his peers. In this case, a constant manifestation of the disease is very frequent, copious, foul-smelling, oily stools containing undigested food debris. Feces are difficult to wash off from diapers, and fat impurities may be clearly visible. Such manifestations develop due to thickening of pancreatic juice: clots clog its ducts. As a result, pancreatic enzymes, which actively influence the digestive processes, do not reach the intestines - indigestion and a slowdown in metabolism, especially fats and proteins, are observed. In the absence of appropriate treatment, this inevitably leads to a child’s retardation in physical development. Pancreatic enzymes, without entering the intestines, break down the pancreas itself, accumulating in it. Therefore, often already in the first month of life, pancreatic tissue is replaced by connective tissue (hence the second name of the disease - cystofibrosis). If the course of the disease is dominated by disorders of the digestive system, then they speak of the intestinal form of cystic fibrosis.
Most often, a mixed form of the disease is observed, when there are disturbances in both the respiratory and digestive systems.
Very important sign Cystic fibrosis is a change in the composition of sweat.
The content of sodium and chlorine in the sweat fluid is several times higher. Sometimes, when kissing, parents notice the salty taste of the child’s skin; less often, you can see salt crystals on his skin.
In 5% of children with cystic fibrosis, rectal prolapse may occur (during defecation, the rectal mucosa “comes out” from the anus, which is accompanied by anxiety in the child). If you have such symptoms, you should consult a doctor, including to rule out cystic fibrosis.

How to confirm the diagnosis?

1. Neonatal diagnosis. It is performed on newborns in the first month of life. The method is based on determining the level of immunoreactive trypsin (IRT), a pancreatic enzyme, in the child’s blood. In the blood of newborns suffering from cystic fibrosis, its content is almost 5-10 times increased. This test is performed if cystic fibrosis is suspected.
2. If the doctor suspects cystic fibrosis, he will refer your child for a sweat test - the main test for diagnosing this disease. The test is based on determining the chloride content in sweat fluid. To perform a sweat test, the drug pilocarpine is used - using a weak electric current (electrophoresis), the drug is injected into the skin and stimulates the sweat glands. The collected sweat is weighed, then the concentration of sodium and chloride ions is determined. For a final conclusion, 2-3 sweat tests are required.
3. Tests for pancreatic insufficiency. Before prescribing treatment, it is necessary to conduct a coprological study - the feces are examined for fat content. The most accessible and accurate test today is a test for the determination of elastase-1, an enzyme produced by the pancreas.
4. Prenatal diagnosis of cystic fibrosis. Currently, due to the possibility of DNA diagnostics for each individual patient with cystic fibrosis and his parents, prenatal diagnosis of this disease in the fetus is real. Families with a family history of cystic fibrosis who want to have a child are guaranteed the birth of a child without cystic fibrosis in almost 96-100% of cases. To do this, future parents, even during pregnancy planning, need to conduct DNA diagnostics and consult a geneticist. When each pregnancy occurs, you must immediately (no later than 8 weeks of pregnancy) contact a prenatal diagnostic center, where at 8-12 weeks of pregnancy the doctor will conduct a genetic diagnosis of fetal cystic fibrosis. Prenatal diagnosis is essentially the prevention of this disease.

Treatment of cystic fibrosis

Therapy for cystic fibrosis is complex, lifelong and is aimed at thinning and removing viscous sputum from the bronchi, fighting infection in the lungs, replacing missing pancreatic enzymes, replenishing deficiencies of vitamins and microelements, and diluting bile. The drugs are prescribed in dosages, sometimes higher than usual (since the absorption of the drugs is difficult).

Enzyme replacement therapy with pancreatic preparations.
Children with cystic fibrosis need to take medications such as Creon or Pancitrate. What makes them special is that they are microspherical, meaning they are gelatin capsules filled with hundreds of coated enzyme microspheres. After release from the capsule, which dissolves within 1-2 minutes in the stomach, the microspheres are evenly distributed throughout the stomach. This ensures the mixing of enzymes with digested food and restores normal process digestion. The drugs are taken throughout life, with every meal. Each child has his own dose of enzymes, which is selected individually by a specialist. Children who carefully and consistently take the correct dose of the drug grow well and gain weight.

Antibacterial therapy.
It is aimed at fighting infection in the bronchi and lungs. Antibiotics are prescribed at the first signs of exacerbation or prophylactically for ARVI (to avoid the addition of a bacterial infection). The choice of antibiotic is determined by the results of sputum culture, which determines the type of pathogen and its sensitivity to drugs. Sputum culture should be carried out once every 3 months, even outside of exacerbations. Courses of antibacterial therapy when pathogens are identified last for at least 2-3 weeks. The drugs are taken in tablets, in solutions for intravenous administration and inhalation (the choice of method is determined by the doctor depending on the manifestations of the disease).

Mucolytic therapy.
Aimed at thinning mucus. For children with cystic fibrosis, the most suitable drug is Pulmozyme, which is several times more effective. conventional means(such as ACC, Fluimucil, Lazolvan, Ambrosan). Mucolytics are taken both by inhalation and in tablet form.

Kinesitherapy.
Treatment of cystic fibrosis is ineffective without the use of modern methods of kinesitherapy - a special set of exercises for breathing exercises. Classes should be daily, lifelong, take from 20 minutes to 2 hours a day (depending on the child’s condition). Kinesitherapy should be mastered immediately after diagnosis in a volume appropriate to the child’s age. Kinesitherapy techniques are taught by specialists in all cystic fibrosis centers and pediatricians.

Hepatoprotectors.
These are drugs that dilute bile and improve liver function. Drugs such as Urosan, Ursofalk help the liver get rid of thick bile, slow down or prevent the development of cirrhosis and cholelithiasis.

Vitamin therapy.
Necessary due to poor absorption of vitamins (especially A, D, E and K), their loss in stool, as well as increased need in them with chronic inflammation in the bronchopulmonary system and liver damage. Vitamins should be taken constantly, with meals.

Daily therapy.
Inhalation and/or taking mucolytic tablets.
After 10-15 minutes - breathing exercises (kinesitherapy).
After breathing exercises - coughing (to remove phlegm).
After this (if there is an exacerbation) - administration of an antibiotic.

Signs of an incipient exacerbation of the bronchopulmonary process.
It is advisable for parents to keep a diary of the child’s condition, which will reflect changes in the baby’s well-being. This information will help you and your doctor notice the slightest deviations from the norm. By keeping a diary, parents learn to feel their child and recognize the first signs of a beginning exacerbation.
Signs: lethargy, decreased appetite, increased body temperature, increased cough (especially at night), changes in the color and amount of sputum, increased breathing. If these symptoms appear, parents should call their local doctor.

How to feed your baby
The optimal nutrition for a child of the first year of life is breast milk. At artificial feeding It is possible to use special mixtures - they will be recommended by a doctor. The diet of a child suffering from cystic fibrosis should be 120-150% of age norm. At the same time, 30% of the food composition should be allocated to fats.
A child receiving special pancreatic enzymes can eat everything that is appropriate for his age. Small child cannot swallow the capsule whole, so the granules from the capsule are poured onto a spoon, mixed with milk, formula or juice and given to the child at the beginning of the meal. When your baby starts teething, make sure he doesn't chew on the pellets.
When introducing new foods into your child’s diet, try to focus on high-calorie foods: sour cream, cream, creamy yogurt, honey, butter. For example, after preparing porridge with milk for breakfast, add butter and 1-2 tablespoons of cream to it.
The baby should receive a lot of fluid, in a volume 2 times higher than the age norm. If your child has abnormal stools (frequent, fatty, unformed, smelly), or abdominal pain, you should immediately report this to a specialist.
A child with cystic fibrosis loses a large amount of mineral salts. In severe cases, this can lead to loss of consciousness. Therefore, in the hot season, as well as when the child’s body temperature is elevated, it is necessary to add additional salt to the food (from 1 to 5 grams of salt per day).

Special conditions required for the child

It is better if a child with cystic fibrosis has his own, separate, well-ventilated room. This is due to the need to provide conditions for kinesitherapy and inhalations. It is desirable that all family members be involved in the process of providing all possible assistance to the parents (the child cannot be left alone even in adulthood, frequent consultations with the attending physician are necessary, a six-time feeding regimen for the child after he reaches 1 year of age, regular use of medications requires constant monitoring). Smoking among family members should be completely eliminated.

Carrying out preventive vaccinations

Preventive vaccinations for children must be done according to the usual scheme- in accordance with the vaccination calendar. In case of exacerbation of the bronchopulmonary process, the vaccination schedule must be agreed upon with the pediatrician. In the fall, it is advisable to get a flu vaccine.
Social benefits for patients with cystic fibrosis in Russia
Treatment of cystic fibrosis requires large financial costs for medications, medical equipment, travel to the place of treatment. People suffering from this disease in Russia are disabled from childhood and have a number of social benefits. Therefore, immediately after this diagnosis is made, it is necessary to register a disability at the place of residence and obtain a certificate. Children with cystic fibrosis receive through pharmacy chain all medications necessary for treatment are free.

Cystic fibrosis is a severe genetic disease, the main cause of which is heredity. The disease affects all secretion glands, respiratory organs and the entire digestive system. In a sick person, irreversible processes occur in the body, so it is very important to diagnose and treat this disease early. With properly selected therapy, the symptoms of cystic fibrosis in adults gradually smooth out. Just a few decades ago, this disease was considered fatal; modern medicine has the ability to significantly alleviate the patient’s condition.

Mechanism of the disease

Cystic fibrosis in adults is a pathological condition that occurs due to gene mutation. In this case, the gene that is located on the seventh chromosome has been changed. The disease is transmitted only if both parents are carriers of such a gene, and the risk of getting the disease is 25%.

Despite certain conditions, this disease occurs quite often in medical practice. This is explained by the fact that every 20th resident is a carrier of such a gene.

Cystic fibrosis manifests itself already in early childhood, but at mild flow illnesses correct diagnosis is not installed immediately.

Forms of the disease

The form of the disease directly depends on the most affected area. For example, if the lung tissue is more affected, then they talk about cystic fibrosis of the lungs, but this does not mean that other organs are not at all susceptible to this pathology. It's worth remembering that in any form of the disease, pathological changes affect absolutely all important organs.

In medical practice, the following forms of cystic fibrosis are distinguished:

• pulmonary;
• intestinal;
• mixed.

Each form of cystic fibrosis has specific symptoms and treatment features. But in any case, early diagnosis and treatment are very important to alleviate the patient’s condition.

With constant treatment and the absence of complications, patients with cystic fibrosis live only up to 40 years.

Pulmonary form

This form of the disease is characterized by the appearance severe cough which often ends in vomiting. If the disease begins at an early age, and in many people the first symptoms are observed from birth, then in an adult the cough becomes chronic.

The main signs of the pulmonary form of the disease are the following health problems:

• pallor skin and a grayish tint to some areas of the skin;
• weakness and apathy;
• pronounced weight loss with adequate nutrition;
• a hacking cough that is somewhat reminiscent of whooping cough.

When you cough, viscous sputum comes out, often with mucus and particles of pus. Purulent contents always indicate the addition of a bacterial infection. Viscous sputum can lead to mucostasis, as well as complete blockage of the bronchi. As a result, severe pneumonia develops, which is difficult to treat. In this case, other symptoms of the disease may be added:

• cyanosis of the skin;
• the sternum begins to protrude forward and resembles a barrel;
• even in a state of complete rest, shortness of breath is observed;
• lack of appetite and weight loss;
• the phalanges on the fingers are noticeably curved.

With prolonged cystic fibrosis, changes occur in the nasopharynx. Due to this, they can develop accompanying illnesses– adenoids, polyps, chronic tonsillitis and sinusitis.

Women with cystic fibrosis can have children, but often develop pulmonary failure during childbirth. Men with this disease are infertile, but their life expectancy is longer.

Intestinal form

This form of the disease is characterized by secretory insufficiency of the gastrointestinal tract. Observed in the intestines congestion, which is accompanied by excessive release of gases and, as a consequence, bloating. In the intestinal form, the following symptoms are observed:

• frequent urge to go to the toilet;
• dryness of the oral mucosa;
• decreased muscle tone;
• malnutrition, which always leads to weight loss;
• polyhypovitaminosis;
• frequent pain in the abdomen, under the right rib and in the muscles.

With this form of the disease, various complications are common, which are manifested by the following pathologies:

• peptic ulcers;
• chronic pyelonephritis;
• disaccharidase deficiency;
• urolithiasis disease;
• complete or partial intestinal obstruction.

Sometimes biliary cirrhosis can develop against the background of cystic fibrosis., in which there is a strong burning sensation of the skin and its pronounced jaundice.

The intestinal form of cystic fibrosis is considered very severe and difficult to treat.

Mixed form

The worst prognosis is if cystic fibrosis occurs in mixed form. Then all the symptoms of the pulmonary and intestinal forms are noticeable. There are 4 stages of the disease of this form, and the severity of symptoms in each case is different:

1. An unproductive and dry cough that does not produce sputum. Shortness of breath occurs only after intense physical exertion. This stage of the disease can last up to 10 years.
2. Developing Chronical bronchitis, when coughing, a large amount of viscous sputum comes out. When exerting, severe shortness of breath occurs. The phalanges of the fingers are noticeably curved. This stage of the disease can last from 2 to 15 years.
3. At this stage, the bronchopulmonary process begins to progress and cause complications. In this case, respiratory and heart failure become clearly visible. This stage lasts from 3 to 5 years;
4. The last stage is characterized by the fact that the heart and respiratory failure go to severe form. This condition in humans lasts for several months and ends in death.

The earlier treatment is started, the better the prognosis. Cystic fibrosis, which develops in adults, often responds well to treatment. The main thing is not to miss the onset of the disease.

Sometimes the disease occurs in a latent form, in which case changes can be detected through radiography.

Diagnosis of the disease

It is very important to diagnose this as early as possible dangerous disease, in this case the prognosis is much more favorable than if the diagnosis was made late and treatment was started. For timely diagnosis the following methods are used:

• Bronchoscopy is necessary to study the consistency of sputum produced.
• Detailed blood and urine tests.
• Sweat test. To date, this is the most informative method for determining cystic fibrosis;
• Bronchography – necessary to determine emerging bronchiectasis.
• DNA analysis to determine the mutating gene.
• Microbiological examination of excreted sputum.
• Spirometry to determine the condition of the lung tissue.
• X-ray to detect changes in the bronchi and lungs.
• A coprogram is necessary to study the amount of fat contained in feces.

According to the doctor’s indications, other studies may be prescribed that will clarify the diagnosis, but usually the above measures are enough to diagnose the pathology.

For pulmonary and mixed forms of cystic fibrosis, bronchoscopy is considered the main diagnostic method.

Treatment

Cystic fibrosis is not treatable full treatment, therefore, therapy is only symptomatic and is aimed at restoring breathing and normalizing the functions of important organs. So, for different forms of the disease, the following therapy may be indicated:

• Pulmonary form. With this course of the disease, it is very important to restore normal breathing, and also prevent concomitant infections. In this case, mucolytics and enzyme preparations are prescribed. In addition, it is recommended physiotherapy and gentle chest massage.
• Intestinal form. In this case, you just need to stick to a diet that contains a large amount of proteins. Patients should eat a lot of meat products, fish, cottage cheese and eggs. At the same time, the consumption of fats and carbohydrates is reduced, and enzymes and vitamin preparations can be prescribed to improve digestion.
• If the pathology is complicated by acute bronchitis or pneumonia, then antibiotics are included in the therapy. In severe cases of pneumonia, hormonal medications may be prescribed.
• To support the work of the heart muscle, metabolites are often prescribed;
• If there is no effect after the prescribed treatment, then bronchial lavage with special solutions is indicated.

Cystic fibrosis cannot be completely cured, so many doctors agree that the only way out There may be a lung transplant. However, in this case, the prognosis is also not very favorable, because the patient will have to constantly take medications, and no one can guarantee that the transplanted organ will not be rejected.

Cystic fibrosis - severe congenital disease, manifested by tissue damage and disruption of the secretory activity of the exocrine glands, as well as functional disorders primarily from the respiratory and digestive systems. Changes in cystic fibrosis affect the pancreas, liver, sweat, salivary glands, intestines, bronchopulmonary system.

The disease is hereditary, with autosomal recessive inheritance (from both parents who are carriers of the mutant gene). Disturbances in organs with cystic fibrosis occur already in the intrauterine phase of development, and progressively increase with the patient’s age. The earlier cystic fibrosis manifests itself, the more severe the course of the disease, and the more serious its prognosis. Due to chronic course pathological process, patients with cystic fibrosis require constant treatment and supervision by a specialist.

What it is?

Cystic fibrosis is a systemic hereditary disease caused by a mutation in the gene for the transmembrane regulator of cystic fibrosis and characterized by damage to the exocrine glands, severe violations functions of the respiratory organs. Cystic fibrosis is of particular interest not only because of its widespread prevalence, but also because it is one of the first hereditary diseases which they tried to treat.

Etiology and pathogenesis

The gene responsible for cystic fibrosis was cloned in 1989. Thanks to this, it was possible to find out the nature of the mutation and improve the method for identifying carriers. The disease is based on a mutation in the CFTR gene, which is located in the middle of the long arm of chromosome 7. Cystic fibrosis is inherited in an autosomal recessive manner and is registered in most European countries with a frequency of 1:2000 - 1:2500 newborns. In Russia, the average incidence of the disease is 1:10,000 newborns. If both parents are heterozygous (carriers of a mutated gene), then the risk of having a child with cystic fibrosis is 25%. Carriers of only one defective gene (allele) do not suffer from cystic fibrosis. According to research, the frequency of heterozygous carriage of the pathological gene is 2-5%.

About 2000 mutations of the cystic fibrosis gene have been identified. The consequence of a gene mutation is a disruption of the structure and function of a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). The consequence of this is a thickening of the secretions of the exocrine glands, difficulty in evacuation of the secretion and a change in its physical and chemical properties, which, in turn, determines the clinical picture of the disease. Changes in the pancreas, respiratory organs, gastrointestinal tract are already registered in prenatal period and steadily increase with the patient’s age. The secretion of viscous secretion by the exocrine glands leads to obstruction of outflow and stagnation with subsequent expansion excretory ducts glands, atrophy glandular tissue and the development of progressive fibrosis. The activity of intestinal and pancreatic enzymes is significantly reduced. Along with the formation of sclerosis in organs, there is a dysfunction of fibroblasts. It has been established that fibroblasts from patients with cystic fibrosis produce ciliary factor, or M-factor, which has anticiliary activity - it disrupts the functioning of epithelial cilia.

Currently, the possible participation in the development of lung pathology in CF of genes responsible for the formation of the immune response (in particular, the genes of interleukin-4 (IL-4) and its receptor), as well as genes encoding the synthesis of nitric oxide (NO) in the body, is being considered .

Symptoms

Depending on: age, the onset of the first symptoms, and the duration of the disease, the clinical symptoms of cystic fibrosis vary widely. But, in the overwhelming majority of cases, the symptoms of the disease are determined by damage to the bronchopulmonary system and gastrointestinal tract.

It happens that the bronchopulmonary system or the gastrointestinal tract is isolated.

Cardiovascular failure in cystic fibrosis

Chronic lung diseases that destroy the bronchial framework, disrupt gas exchange and the flow of oxygen to tissues, inevitably lead to complications from the cardiovascular system. The heart cannot pump blood through the diseased lungs. Gradually, the heart muscle increases compensatoryly, but up to a certain limit, above which heart failure occurs. At the same time, gas exchange, already impaired, weakens even more. Carbon dioxide accumulates in the blood, and there is very little oxygen needed for normal operation all organs and systems.

Symptoms of cardiovascular failure depend on the compensatory capabilities of the body, the severity of the underlying disease and each patient individually. The main symptoms are determined by increasing hypoxia (lack of oxygen in the blood).

Among them, the main ones are:

1. Shortness of breath at rest, which increases with increasing physical activity.
2. Cyanosis of the skin, first of the fingertips, the tip of the nose, neck, lips - which is called acrocyanosis. As the disease progresses, cyanosis increases throughout the body.
3. The heart begins to beat faster to somehow compensate for the lack of blood circulation. This phenomenon is called tachycardia.
4. Patients with cystic fibrosis are significantly retarded in physical development and lack weight and height.
5. Swelling appears in the lower extremities, mainly in the evening.

Symptoms of cystic fibrosis with damage to the bronchi and lungs

Characteristic is the gradual onset of the disease, the symptoms of which increase over time, and the disease takes on a chronic, protracted form. At birth, the child has not yet fully developed sneezing and coughing reflexes. Therefore, sputum accumulates in large quantities in the upper respiratory tract and bronchi.

Despite this, the disease begins to make itself felt for the first time only after the first six months of life. This fact is explained by the fact that nursing mothers, starting from the sixth month of a child’s life, transfer him to mixed feeding, and the amount mother's milk decreases in volume.

Mother's milk contains many beneficial nutrients, including the transmission of immune cells, protecting the child from exposure to pathogenic bacteria. The lack of human milk immediately affects the immune status of the baby. Taken together with the fact that stagnation of viscous sputum certainly leads to infection of the mucous membrane of the trachea and bronchi, it is not difficult to guess why, starting from the age of six months, symptoms of damage to the bronchi and lungs first begin to appear.

So, the first symptoms of bronchial damage are:

1. Cough with scanty, stringy sputum. A characteristic feature of a cough is its persistence. The cough exhausts the child, disrupts sleep and general condition. When you cough, the color of the skin changes, the pink tint changes to cyanotic (bluish), and shortness of breath appears.
2. The temperature may be within normal limits or slightly increased.
3. There are no symptoms of acute intoxication.

The lack of oxygen in the inhaled air leads to a delay in overall physical development:

1. The child is gaining little weight. Normally, per year, with a body weight of approximately 10.5 kg, children with cystic fibrosis significantly fall short of the required kilograms.
2. Lethargy, pallor and apathy are characteristic signs of developmental delay.

When an infection attaches and the pathological process spreads deeper into lung tissue, are developing severe pneumonia with a number of characteristic symptoms such as:

1. Increased body temperature 38-39 degrees
2. Severe cough, producing thick, purulent sputum.
3. Shortness of breath, worse when coughing.
4. Severe symptoms of intoxication of the body, such as headache, nausea, vomiting, impaired consciousness, dizziness and others.

Periodic exacerbations of pneumonia gradually destroy lung tissue and lead to complications in the form of diseases such as bronchiectasis, emphysema. If the patient's fingertips change their shape and become drum fingers, and the nails are rounded in the form of watch glasses, this means that there is a chronic lung disease.

Other characteristic symptoms are:

1. The shape of the chest becomes barrel-shaped.
2. The skin is dry and loses its firmness and elasticity.
3. Hair loses its shine, becomes brittle, and falls out.
4. Constant shortness of breath, worsening with exertion.
5. Cyanotic complexion (blue) and all skin. It is explained by a lack of oxygen flow to the tissues.

Symptoms of cystic fibrosis with damage to the gastrointestinal tract

When the exocrine glands of the pancreas are damaged, symptoms of chronic pancreatitis occur.

Pancreatitis is an acute or chronic inflammation pancreas, distinctive feature which are severe digestive disorders. In acute pancreatitis, pancreatic enzymes are activated inside the gland ducts, destroying them and releasing them into the blood.

In the chronic form of the disease, the exocrine glands in cystic fibrosis undergo early pathological changes, and are replaced by connective tissue. In this case, there are not enough pancreatic enzymes. This determines the clinical picture of the disease.

The main symptoms of chronic pancreatitis:

1. Bloating (flatulence). Insufficient digestion leads to increased gas formation.
2. Feeling of heaviness and discomfort in the abdomen.
3. Girdle pain, especially after heavy intake of fatty, fried foods.
4. Frequent diarrhea (diarrhea). There is not enough pancreatic enzyme - lipase, which processes fat. A lot of fats accumulate in the large intestine, which attract water into the intestinal lumen. As a result, the stool becomes liquid, foul-smelling, and also has a characteristic shine (steatorrhea).

Chronic pancreatitis in combination with gastrointestinal disorders leads to impaired absorption of nutrients, vitamins and minerals from food. Children with cystic fibrosis are poorly developed, not only physical, but also general development is delayed. The immune system weakens, the patient is even more susceptible to infection.

The liver and biliary tract are affected to a lesser extent. Severe symptoms of liver and gallbladder damage appear much later compared to other manifestations of the disease. Usually in the later stages of the disease one can detect an enlarged liver and some yellowness of the skin associated with stagnation of bile.

Functional disorders genitourinary organs manifests itself in delayed sexual development. Mostly in boys, in adolescence, complete sterility is noted. Girls also have a reduced chance of conceiving a child.

Cystic fibrosis inevitably leads to tragic consequences. The combination of increasing symptoms leads to the patient’s disability and inability to care for himself. Constant exacerbations from the bronchopulmonary and cardiovascular systems exhaust the patient, create stressful situations, and aggravate an already tense situation. Proper care, compliance with all hygiene rules, preventive treatment in a hospital, and others necessary measures– prolong the life of the patient. According to various sources, patients with cystic fibrosis live up to approximately 20-30 years.

Symptoms in adults

Erased forms of the disease are usually detected in adults during random examination. They are associated with special variants of mutations in the pathological gene, which lead to minor damage to epithelial cells.

The disease occurs under the “mask” of others pathological processes, about which a thorough examination begins:

• inflammation of the paranasal sinuses;
• recurrent bronchitis;
• cirrhosis of the liver;
• male infertility - associated with obstruction of the spermatic cord or its atrophy, as a result of which sperm cannot enter the semen;
• female infertility - associated with increased viscosity of cervical secretions, which disrupts the transport of sperm to the uterus, retaining them in the vagina.

Therefore, all patients suffering from infertility, the cause of which cannot be identified by standard examination methods, must be referred to a geneticist. Analysis of genetic material and additional biochemical tests can identify an erased form of cystic fibrosis.

Complications

Children with cystic fibrosis have a lot of complications in the body, which subsequently lead to death. Severe pathologies occur in the absence of treatment or its frequent interruption, or non-compliance with doctor’s recommendations.

All glands that produce enzymes in the body produce viscous mucus. Violation of enzyme secretion leads to organ damage.

1. The pancreas does not secrete enough enzymes, which leads to intestinal damage, disruption of the gastrointestinal tract, liver damage, diabetes mellitus, intestinal obstruction, liver cirrhosis.
2. Lung damage affects the functioning of the heart, and the functions of the cardiovascular system are impaired. Complications: “pulmonary” heart, heart failure.
3. From the bronchopulmonary system: arterial hypertension, eczema of the bronchopulmonary lobes, asthma, sinusitis, bronchiectasis, development of bacterial destruction in the lungs, diabetes, bronchitis, pneumonia, pneumothorax, atelectasis, pneumosclerosis, respiratory failure and many others.
4. Cystic fibrosis in women, as in men, can cause infertility.

Fibrosis is observed in various organs when connective tissue grows and replaces normal cells.

Diagnostics

A timely diagnosis of cystic fibrosis is very important in terms of prognosis for the life of a sick child. The pulmonary form of cystic fibrosis is differentiated from obstructive bronchitis, whooping cough, chronic pneumonia of other origins, bronchial asthma; intestinal form - with impaired intestinal absorption that occurs with celiac disease, enteropathy, intestinal dysbiosis, disaccharidase deficiency.

The diagnosis of cystic fibrosis involves:

1. General blood and urine analysis;
2. Study of family and hereditary history, early signs diseases, clinical manifestations;
3. Microbiological examination of sputum;
4. Coprogram - examination of feces for the presence and content of fat, fiber, muscle fibers, starch (determines the degree enzymatic disorders glands digestive tract);
5. Bronchoscopy (detects the presence of thick and viscous sputum in the form of threads in the bronchi);
6. Bronchography (detects the presence of characteristic “drop-shaped” bronchiectasis, bronchial defects);
7. Spirometry (determines the functional state of the lungs by measuring the volume and speed of exhaled air);
8. X-ray of the lungs (reveals infiltrative and sclerotic changes in the bronchi and lungs);
9. Molecular genetic testing (testing blood or DNA samples for the presence of mutations in the cystic fibrosis gene);
10. Sweat test - study of sweat electrolytes - the main and most informative analysis for cystic fibrosis (allows you to identify high content chloride and sodium ions in the sweat of a patient with cystic fibrosis);
11. Prenatal diagnosis - examination of newborns for genetic and congenital diseases.

Treatment of cystic fibrosis

Depending on the severity, treatment can be carried out in a specialized hospital or at home. The goal of therapy is to combat the development of complications and alleviate the child’s condition, but it is impossible to cure this disease at the current level of medical development. Treatment of cystic fibrosis must be comprehensive.

When damage to the digestive tract predominates, the following are used:

1. Vitamin therapy: vitamin complexes with microelements.
2. For liver damage, hepatoprotectors are used (Enerliv, Gepabene, Essentiale-forte, Glutargin, etc.). Ursodeoxycholic acid in combination with Taurine has a good effect. If liver failure develops, a liver transplant is performed. In case of severe damage to both the lungs and liver, a liver and lung transplant is possible.
3. Constant reception enzymatic preparations. The drugs Pancreatin, Pancitrate, Mezim-Forte, Creon are effective.
4. The nutrition of patients with cystic fibrosis should be higher than the age norm in terms of calories, vitamins and microelements. Appointed protein diet, fats are not limited, but subject to constant intake of enzymatic preparations.

For pulmonary pathology the following are used:

1. For bronchospastic syndrome, inhalations with bronchodilators are performed.
2. Mucolytics to thin the mucus (for internal use and inhalation): ACC, Fluifort (not only reduces the viscosity of mucus, but also restores the function of cilia in the respiratory tract), Amiloride or Pulmozyme. Mucolytics can also be administered using a bronchoscope, followed by suction of secretions and injection of the antibiotic directly into the bronchi.
3. Antibiotics for the purpose of affecting pathogenic flora which caused inflammation. 3rd generation cephalosporins, aminoglycosides, and fluoroquinolones are used, depending on the sensitivity of the isolated pathogen. Injection and inhalation methods of drug administration are used.
4. Corticosteroid drugs, anticytokines, protease inhibitors and non-steroidal anti-inflammatory drugs are prescribed to more quickly relieve the inflammatory process.
5. Kinesiotherapy: a special complex of breathing exercises that helps clear mucus from the respiratory tract. Such exercises are carried out daily and for life.

As already mentioned, cystic fibrosis is an incurable disease, but competent supportive therapy can significantly facilitate and prolong the life of patients.

Latest developments in the treatment of cystic fibrosis

Currently, the search for a gene treatment for the disease has almost reached a dead end. Therefore, scientists decided to influence not the very cause of the pathology, but the mechanism of development of cystic fibrosis. It was determined that the thickening of gland secretions occurs due to a lack of one trace element (chlorine). Accordingly, by increasing its content in these fluids, the course of the disease can be significantly improved.

For this purpose, the drug VX-770 was developed, which partially restores the normal chlorine ratio. During clinical trials, doctors managed to reduce the frequency of exacerbations by almost 61%, improve respiratory functions by 24% and achieve a weight gain of 15-18%. This is a significant success and suggests that in the foreseeable future, cystic fibrosis can be successfully treated, rather than just eliminating its symptoms. Currently, the VX-770 is undergoing additional tests, it will not go on sale until 2018-2020.

Forecast

The prognosis for cystic fibrosis remains unfavorable to this day. The mortality rate is 50-60%, higher among young children. At late diagnosis and inadequate therapy, the prognosis is much less favorable. Becomes of great importance medical genetic counseling families with cystic fibrosis patients.

The criterion for the quality of diagnosis and treatment of cystic fibrosis is the average life expectancy of patients. In European countries this figure reaches 40 years, in Canada and the USA - 48 years, and in Russia - 22-29 years.

Prevention

As for the prevention of cystic fibrosis, prenatal diagnosis is considered one of the most important measures to prevent the disease, with the help of which it is possible to identify the presence of a defect in the seventh gene even before birth. To strengthen immunity and improve living conditions All patients need careful care, good nutrition, personal hygiene, moderate physical activity and provision of the most comfortable living conditions.