What jobs can people with cystic fibrosis not work in? Life of children with cystic fibrosis. Tips and practical recommendations from a pediatric gastroenterologist. Is there a prenatal diagnosis of cystic fibrosis?

Cystic fibrosis (mucoviscidosis; synonym: cystofibrosis, pancreatic fibrosis) is a hereditary disease characterized by systemic damage to the exocrine glands (exocrine glands) and manifested by severe disorders of the functions of the respiratory system, gastrointestinal tract and a number of other organs and systems.

The disease was first described in 1938 by American pathologist Dorothy Anderson. She also proved its hereditary nature.

In 1946, American pediatrician Sydney Farber proposed the term “cystic fibrosis” (from the Latin mucus - mucus, viscus - viscous).

The disease is associated with a mutation in the CFTR gene (cystic fibrosis transmembrane conductance regulator, or the Russian designation CFTR - cystic fibrosis transmembrane regulator), which is responsible for the transport of sodium and chlorine ions across the cell membrane.

The CFTR gene was identified in 1989. To date, more than 1,500 of its mutations have been identified.

Every 20th inhabitant of the Earth (every 30th inhabitant of Europe) is a carrier of a defective gene. Cystic fibrosis occurs in a person if both of his parents are carriers of such a gene. In this case, the probability of having a healthy child is only 25%.

Cystic fibrosis is most common among Caucasians, but cases have been reported in all races. Among the Caucasian population, one case of the disease is recorded per 2000-3000 newborns, and among the black African and Japanese populations its frequency is one case per 100 thousand.

It is equally common in both boys and girls.

In Russia, 1,509 patients with cystic fibrosis are officially registered. In our country, according to experts, for every identified patient there are 10 undiagnosed cases.

The disease usually appears in early childhood. Symptoms: salty taste of sweat, the appearance of mucus plugs in the bronchi and bronchioles, frequent bronchitis and pneumonia, poor bowel function.

Different mutations lead to different clinical presentations of the disease.

As a result of a defect in the CFTR gene, thick and viscous contents accumulate in all organs that secrete mucus (bronchopulmonary system, pancreas, liver, sweat glands, salivary glands, intestinal glands, gonads), the release of which is difficult.

With cystic fibrosis, the pancreas can be affected, which leads to the fact that the required amount of enzymes does not enter the digestive system and food is not digested. Almost all patients suffer from underweight. The pancreatic ducts become blocked, resulting in the formation of cysts. Diabetes mellitus often develops against the background of cystic fibrosis.

When the bronchopulmonary system is damaged, patients develop very viscous sputum, into which pathogenic microorganisms easily enter, which lead to the gradual destruction of lung tissue. The most common pathogens in the disease are Staphylococcus aureus and Pseudomonas aeruginosa. Mucus plugs appear in the bronchi and bronchioles. The inflammatory process in the bronchi in combination with their obstruction by purulent plugs often leads to irreversible expansion of the pulmonary lumen and the formation of bronchiolectasis.

Due to thickening of bile and blockage of the bile ducts, the liver also suffers during the disease. Cirrhosis often develops.

Damage to the sweat glands appears immediately after birth; large amounts of salt are excreted from the body through sweat.

The most common is the mixed (pulmonary intestinal) form of cystic fibrosis (75–80%). About 15-20% of patients suffer from the pulmonary form and about 5% from the intestinal form.

Most patients are diagnosed before the age of two; in 4% of patients, cystic fibrosis is diagnosed in adulthood.

Modern possibilities of prenatal (antenatal) examination make it possible to identify mutations leading to the disease.

Therapy for cystic fibrosis is complex and is aimed at thinning and removing viscous sputum from the bronchi, fighting infection in the lungs, replacing missing pancreatic enzymes, correcting multivitamin deficiency, and diluting bile.

A person with cystic fibrosis constantly needs medications throughout his life, often in large doses. They need mucolytics - substances that destroy mucus and help its separation. In order to grow, gain weight and develop according to age, the patient must receive enzyme preparations with every meal. Otherwise, the food simply will not be digested. Nutrition is also important. Easily digestible foods are prepared for sick children. Food should not contain coarse fiber.

Antibiotics are often necessary to control respiratory infections and are prescribed to relieve or prevent exacerbations. In case of liver damage, hepatoprotectors are needed - drugs that dilute bile and improve the function of liver cells. Many medications require inhalers to administer.

Lung and liver transplantation are another option for cystic fibrosis patients after drug therapy resources have been exhausted.

Patients with cystic fibrosis vitally need kinesitherapy - breathing exercises and special exercises aimed at removing phlegm. Classes should be daily and lifelong.

It is not advisable for patients with cystic fibrosis to stay in preschool institutions. 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.

Among patients with cystic fibrosis, the mortality rate is very high: 50-60% of children die before reaching adulthood. In the USA and European countries, the average life expectancy of these patients increases every year. At the moment this is 35-40 years of life.

Recent studies conducted by Australian scientists have shown that women with cystic fibrosis die earlier than men.

According to experts, a patient born in 2000 can be guaranteed 50 years of life by modern medicine. American doctors are already monitoring elderly patients, some of whom are over 60 years old.

In Russia, cystic fibrosis has become a national priority program, and the first lung transplants have been performed for patients with this disease. Since 2007, mass screening (a set of mass diagnostic measures) of newborns for cystic fibrosis has been introduced in all regions of the Russian Federation within the framework of the National Health Program. A major role in improving care for patients with cystic fibrosis was played by the organization in the country of specialized Russian and regional centers for diagnosis (including prenatal), treatment and rehabilitation of patients with cystic fibrosis, as well as the current government orders and orders of the Ministry of Health and Social Development on a number of benefits for disabled children with cystic fibrosis.

Cystic fibrosis is the name of a rare genetic disease that affects more than 100 thousand people worldwide. In Russia, this disease remains little known. According to statistics, every 20th representative of the Caucasian race has the gene for cystic fibrosis. According to the Ministry of Health and Social Development, about 2,500 people live with this diagnosis in Russia. However, the real figure is 4 times higher.

What is cystic fibrosis?

Cystic fibrosis (cystic fibrosis) is a common hereditary disease. Due to a defect (mutation) in the CFTR gene, secretions in all organs are very viscous and thick, so their extraction is difficult. The disease affects the bronchopulmonary system, pancreas, liver, sweat glands, salivary glands, intestinal glands and gonads. In the lungs, due to the accumulation of viscous sputum, inflammatory processes develop in the first months of a child’s life.

1. What symptoms do people with cystic fibrosis exhibit?

Some of the first symptoms of the disease are a severe, painful cough and shortness of breath. In the lungs, ventilation and blood supply are disrupted, and inflammatory processes develop due to the accumulation of viscous sputum. Patients often suffer from bronchitis and pneumonia, sometimes already from the first months of life.

Due to a lack of pancreatic enzymes, patients with cystic fibrosis have difficulty digesting food, so such children, despite an increased appetite, are behind in weight. They have copious, greasy, foul-smelling stools that are difficult to wash out of diapers or from the potty, and there is rectal prolapse. Due to stagnation of bile, some children develop cirrhosis of the liver, and gallstones may form. Mothers notice a salty taste in their baby's skin, which is associated with increased loss of sodium and chlorine through sweat.

2. Which organs does the disease affect?t first of all?

Cystic fibrosis affects all endocrine glands. However, depending on the form of the disease, either the bronchopulmonary or the digestive system is primarily affected.

3. What forms can the disease take?

There are several forms of cystic fibrosis: pulmonary form, intestinal form, meconium ileus. But most often there is a mixed form of cystic fibrosis with simultaneous damage to the gastrointestinal tract and respiratory organs.

4. What could be the consequences ifIs the disease not diagnosed in time and treatment not started?

Depending on the form of the disease, prolonged neglect can lead to different consequences. Thus, complications of the intestinal form of cystic fibrosis include metabolic disorders, intestinal obstruction, urolithiasis, diabetes mellitus and cirrhosis of the liver. While the respiratory form of the disease can result in chronic pneumonia. Subsequently, pneumosclerosis and bronchiectasis are formed, symptoms of “pulmonary heart”, pulmonary and heart failure appear.

5. Does the disease affect a person’s mental development?

Patients with cystic fibrosis are mentally fully functional. In addition, among them there are many truly gifted and intellectually developed children. They are especially good at activities that require peace and concentration - they study foreign languages, read and write a lot, engage in creativity, and they make wonderful musicians and artists.

6. Can you get cystic fibrosis?

No, this disease is not contagious and is transmitted only at the genetic level. No natural disasters, illnesses of parents, their smoking or drinking alcoholic beverages, or stressful situations matter.

7. Can the disease only appear in adulthood or do symptoms appear from birth?

Cystic fibrosis can occur for quite a long time and be asymptomatic - in 4% of cases it is diagnosed in adulthood. But most often the disease manifests itself in the first years of life. Before the advent of high-tech diagnostics and treatment, children with cystic fibrosis rarely lived beyond 8-9 years of age.

8. Can sick children play sports, or should they have a gentle regime?

It is not only possible to play sports, but even necessary - physical activity helps to evacuate phlegm more effectively and maintain good performance. Particularly useful are swimming, cycling, horse riding, and most importantly, the sport that the child himself is drawn to. However, parents should be careful about traumatic sports.

9. Can cystic fibrosis be cured, or is this disease untreatable?

Today it is impossible to completely overcome this disease, but with constant adequate treatment, a person with such a diagnosis can live a long, fulfilling life. Transplant operations for damaged organs are now being practiced.

10. How is the treatment carried out?

A person with cystic fibrosis constantly needs medications throughout his life, often in large doses. They need mucolytics - substances that destroy mucus and help its separation. In order to grow, gain weight and develop according to age, the patient must receive medications with every meal. Otherwise, the food simply will not be digested. Nutrition is also important. Antibiotics are often necessary to control respiratory infections and are prescribed to relieve or prevent exacerbations. In case of liver damage, hepatoprotectors are needed - drugs that dilute bile and improve the function of liver cells. Many medications require inhalers to administer.

Kinesitherapy is vital - breathing exercises and special exercises aimed at removing phlegm. Classes should be daily and lifelong. Therefore, the child needs balls and other equipment for kinesitherapy.

11. Is it possible to be treated withat home, or is it necessary to undergo treatment on an outpatient basis?

Treatment for cystic fibrosis often requires hospitalization, but it can be done at home, especially if the disease is mild. In this case, a huge responsibility in treating the child falls on the parents, but constant communication with the attending physician is necessary.

12. How much does it cost to treat the disease?

Currently, treatment for cystic fibrosis is very expensive - the cost of maintenance therapy for a patient ranges from $10,000 to $25,000 per year.

13. What exercises should people with cystic fibrosis do?

A sick child needs kinesitherapy every day - a special set of exercises and breathing exercises aimed at removing phlegm. There is a passive technique that is used in newborns and children under 3 years of age and includes changes in the position of the child’s body, shaking, and manual vibration. Subsequently, the patient must be transferred to an active technique, when the child himself does the exercises. Before starting kinesitherapy, parents are required to consult a doctor.

14. ShouldIs there a doctor present during the exercises?

At the initial stage, the attending physician or kinesiotherapist must be present at each massage session; later, parents can learn therapeutic massage themselves.

15. Is it true that mIs ucoviscidosis the most common hereditary disease?

Cystic fibrosis is indeed one of the most common hereditary diseases in patients belonging to the Caucasian (Caucasian) population. Every 20th inhabitant of the planet is a carrier of a defective gene.

16. How often are children born with cystic fibrosis?

In Europe, one baby out of 2000-2500 newborns is sick with cystic fibrosis. In Russia, the average incidence of the disease is 1:10,000 newborns.

17. If youparents have a gene mutation, what is the likelihood of having a child with cystic fibrosis?

If both parents are carriers of a mutated gene, but are not sick themselves, the probability of having a sick child is 25%.

18. Is it possiblediagnose this disease in the early stages of a woman’s pregnancy?

Yes, at 10-12 weeks of pregnancy, fetal disease can be detected. But it must be borne in mind that the diagnosis is carried out when pregnancy has already occurred, therefore, in the case of a positive result, parents must decide whether to continue or terminate the pregnancy.

19. What is the mortality rate among children with cystic fibrosis?

Among patients with cystic fibrosis, the mortality rate is very high: 50-60% of children die before reaching adulthood.

20. What is the average life expectancy of patientscystic fibrosis?

Throughout the world, the level of treatment for cystic fibrosis is an indicator of the development of national medicine. In the USA and European countries, the average life expectancy of these patients increases every year. At the moment, this is 35-40 years of life, and babies who are born now can count on an even longer life. In Russia, the average life expectancy of patients with cystic fibrosis is much lower - only 20-29 years.

21. Are there any funds that provide assistance to children and adults suffering from cystic fibrosis?

There are several foundations working with sick children: these are “Pomogi.Org”, the “Creation” foundation, the special “In the Name of Life” foundation, created by parents of children suffering from cystic fibrosis, and the “Oxygen” program of the “Warmth of Hearts” charity foundation.

22. What support is provided to patients in these funds?

In our society, not everyone has heard the word “cystic fibrosis.” But this is the most common among known hereditary diseases. The disease cystic fibrosis occurs almost all over the world, mainly among the white race.

According to medical statistics, approximately 1 in 2000 babies are born with this serious disease. In general, there are no complete and reliable data for Russia yet, but, according to various estimates, the frequency of the disease ranges from 1:12000 to 1:3500.

What kind of disease is cystic fibrosis?

Perhaps the low awareness of people is explained by the fact that the study of cystic fibrosis began relatively recently, and the very concept of this disease arose only a few decades ago. People first started talking about it in the 30s of the 20th century - before, most sick children simply died quickly from severe pneumonia or other consequences of cystic fibrosis, but no one knew about the real cause. The gene “responsible” for cystic fibrosis was discovered only in 1989, and at the same time the type of its defect that most often leads to the disease was found. The gene is located on the long arm of chromosome 7, and its product is a protein that regulates the transport of salts through cell membranes (the so-called CFTR protein) by forming a channel for their transport. Precisely because the function of this protein is so general, the “breakage” of its gene causes serious and severe changes in almost the entire body.

Since 1990, there has been a major breakthrough in the study of the disease. About 1,200 types of genetic damage leading to the disease are now known, and these studies are ongoing. Depending on the specific mutation (gene breakdown), more “hard” and “softer”, benign mutations are distinguished. The severity of the disease greatly depends on the type of mutation. Previously, patients with moderate or severe forms of cystic fibrosis died at a very early age, but now, fortunately, the situation has changed. Now people with this diagnosis can live normally while receiving supportive treatment.

Causes of cystic fibrosis

The causes of cystic fibrosis are generally clear as it is an inherited disease. Geneticists call the inheritance of cystic fibrosis autosomal recessive. What does it mean? The birth of a sick child is possible (with a theoretical probability of 1/4) if both parents are carriers of a genetic defect (Fig. 1). At the same time, the child’s parents, as a rule, are healthy and are not even aware of the unpleasant genetic surprise stored in the DNA of their eggs and sperm. Meanwhile, silent carriage of the gene for this disease is not at all uncommon: it is typical for almost everyone twentieth Caucasian! It means that among your friends there is almost certainly at least one carrier of the cystic fibrosis gene.

The same parents can have both sick and healthy children - but at the same time, there are also families where all, or almost all, children are sick. A sick child may be born into a family where none of the relatives had a similar illness before. Inheritance is not gender-linked, meaning boys and girls get sick equally often. And of course It is impossible to “get infected” with this disease. The age and bad habits of the parents, infections, external circumstances preceding pregnancy do not matter. It is impossible to say that someone is to blame for what happened. It is necessary to understand what happened and provide the patient with the necessary help as soon as possible.

Symptoms of cystic fibrosis - what happens to the lungs?

The word "cystic fibrosis" comes from the Latin words mucus - "mucus" and viscidus - "viscous". This name means that the secretions (mucus) secreted by various organs are too viscous and thick. As a result, all these organs suffer: the bronchopulmonary system, pancreas, liver, intestinal glands, sweat and salivary glands, gonads. They clogged with mucus, which normally should be easily and promptly separated, but due to its abnormal thickness it clogs the ducts.

Symptoms such as damage to the respiratory organs and lungs in cystic fibrosis are due to the fact that the mucous glands of the bronchial tree produce viscous sputum, which accumulates in the small bronchi and clogs them. As a result, ventilation and blood supply to the lungs are disrupted. A painful cough is one of the constant symptoms of the disease. You can hear wheezing in your lungs. The heart also suffers (the so-called “pulmonary heart” appears). It is from respiratory failure that the vast majority of sick children and adults die. Mucus plugs are easily infected, most often with staphylococcus or Pseudomonas aeruginosa. Patients develop recurring bronchitis and pneumonia, sometimes already from the first months of life. Infection further increases the viscosity of sputum. Such conditions are extremely dangerous for the patient’s life.

Very often (up to 80% of cases) it is also affected pancreas, the ducts of which are clogged with viscous secretion. Due to problems with pancreatic enzymes, intestinal function is disrupted, digestion and absorption deteriorate, diarrhea occurs, which can be replaced by constipation. (In one of the most important early works on cystic fibrosis, such a lesion of the pancreas was called cystic fibrosis, and this is the name now used for cystic fibrosis in the English literature.) Despite a normal or even increased appetite, children gain weight poorly and grow slowly . They have very thin limbs with characteristic shaped fingers, dry pale skin, often a deformed chest and a swollen abdomen. Due to stagnation of bile, some patients develop cirrhosis liver, gallstones may form.

Forms of cystic fibrosis

There are patients with predominant damage to either the lungs (pulmonary form) or the gastrointestinal tract (intestinal form), but most often a mixed form of cystic fibrosis is observed.

One of the characteristic symptoms of cystic fibrosis is salty taste of the patient's skin. Even before the scientific discovery of this disease, some people noticed that babies with such salty skin usually become seriously ill and die early. And now it is the increased content of chlorides in sweat (which gives the salty taste) that is one of the main symptoms that makes it possible to make a diagnosis.

Patients with cystic fibrosis mentally completely complete. If their physical condition allows, then they can and should attend school. Moreover, among them there are many truly gifted and intellectually developed children. Perhaps because their physical development is often limited, they are especially successful in those activities that require peace and concentration. Among them are many talented computer scientists, musicians, and draftsmen. They study foreign languages, read and write a lot, and are fond of handicrafts. They play sports as best they can. Many of them may well become successful professionals and benefit people. But for this they must grow up, they must survive.

Patients with cystic fibrosis can create families. Previously, there was no talk about this, because rarely did any of the patients survive to adulthood, and the few that did live were very much behind in physical development, so there was no talk even about secondary sexual characteristics. Until now, conception is difficult or impossible for many patients. But, nevertheless, a number of cases are now known when young people with cystic fibrosis became fathers or mothers. There are such families in Russia. Moreover: if the second spouse is not a carrier of the defective gene, then the children of such couples will be clinically healthy.

How to identify cystic fibrosis? Diagnostics

The main diagnostic method is performing a sweat test. For this purpose, modern methods are used: the use of sweat conductivity analyzers. Nanoduct, Macroduct. NANODUCT TM (Wescor, USA) is a device that allows examination of children with suspected cystic fibrosis in the first days of the child’s life. Early diagnosis of such a serious genetic disease allows timely initiation of treatment, rehabilitation, and improvement of the quality and life expectancy of patients with cystic fibrosis. NANODUCT TM is a portable sweat analyzer that allows you to get an accurate result within 10 minutes from the start of the study. The amount of sweat required to perform the test is minimal (about 3 μl), the miniature components of the Nanoduct system are easily suitable for infants, which makes it possible to conduct a sweat test in newborns, underweight children, and patients of any age.

Timely diagnosis of cystic fibrosis allows timely initiation of effective therapy in the early stages of the disease, which determines the prognosis and timely registration of the patient at the regional Cystic Fibrosis Center.

A timely diagnosis brings clarity to parents’ understanding of the child’s condition, allows the family to adapt in time to the problems associated with a chronic disease, prevent large financial costs for the treatment of complications, and resolve issues about prenatal diagnosis of cystic fibrosis in subsequent pregnancies.

Neonatal screening

Since 2006, cystic fibrosis has been included in the neonatal screening program for newborns. Neonatal screening- mass examination of newborn children, one of the effective ways to identify the most common congenital and hereditary diseases. Neonatal screening begins in the maternity hospital: a drop of blood is taken from each newborn on a special test form, which is sent to a medical genetic consultation for testing. If a disease marker is detected in the blood, parents with a newborn child are invited to a medical genetic consultation to conduct a repeat blood test to confirm the diagnosis and prescribe treatment. In the future, dynamic monitoring of the child is carried out.

Neonatal screening allows for early detection of diseases and their timely treatment, stopping the development of severe manifestations of diseases leading to disability.

Can a person with cystic fibrosis give birth to offspring?

Problems arise with the birth of offspring in men with cystic fibrosis. More than 95% of men with cystic fibrosis are sterile. In cystic fibrosis, there may be a congenital absence of vas deferens - abnormal development of the duct that ensures the passage of sperm from the testicles. Women also have reduced fertility. They can have children, but severe forms of cystic fibrosis often have problems conceiving. Plus, impaired lung function can cause problems with pregnancy. If there are problems with conception, adoptive children or the use of donor sperm may be a solution.

Cystic fibrosis: there is no cure, but it can be treated

Let's be honest: today medicine cannot cure cystic fibrosis completely. A radical method of treating cystic fibrosis could be either the delivery of normal copies of the affected gene to the desired cells (gene therapy), or the administration of drugs that would play a role in cellular transport similar to the role of the desired protein. And although the first studies are being carried out, including in Russia, both ways are associated with great difficulties and have not yet been implemented. Of course, researchers hope that the generation of children being born now will be able to receive not just treatment, but a cure. However, no one can promise this for sure. Some hope for the future eradication of the disease lies in genetic testing. In most cases, it is possible to find out whether the husband and wife are carriers of the disease and whether it is possible for them to give birth to a sick child. Prenatal (i.e. prenatal) diagnosis of the fetus during pregnancy is also possible.

However, understanding that a disease cannot be cured does not mean that it should not be treated. Yes, it is still impossible to fight the cause, but it is possible and necessary to mitigate the consequences - remove viscous sputum from the bronchi, fight infections, replace missing enzymes and vitamins. After all, there are other diseases (for example, diabetes) that cannot be cured completely, but with proper medication, patients lead a full and fairly long life. The sooner the diagnosis is made, the sooner treatment is started for a patient with cystic fibrosis, the easier his condition will be, the longer and better he will live. Previously, these patients were considered doomed - children with severe cystic fibrosis died during the first years of life. And now in the Russian outback, doctors sometimes believe that it is impossible to help these patients, and actually give up. But now there are no grounds or justifications for such an opinion. Complex drug therapy for this disease has changed the understanding of it. Enormous progress has been made in just the last decade. Every year, patients live longer and more fully. In Western European countries, those children currently undergoing treatment for cystic fibrosis can be guaranteed an average of 35-40 years of life, and this figure continues to grow. Imagine an elderly person with cystic fibrosis - for the West there is nothing incredible in this. However, in Russia the situation is worse; the life expectancy of patients is usually 20-25 years, rarely more. Only a few “long-livers” are now under forty.

To solve problems associated with this disease, for timely diagnosis, diagnosis, and registration of a patient with cystic fibrosis, parents can contact specialists in this field.

In Krasnoyarsk, you can get a consultation at the Regional Diagnostic Center for Medical Genetics (chief physician - Elizareva Tatyana Yuryevna) and the Regional Center for Cystic Fibrosis (located on the basis of the Pulmonary Allergy Center of the Regional Clinical Hospital - head Ilyenkova Natalya Anatolyevna, consultant doctor Chikunov Vladimir Viktorovich - tel 220-15-45, 259-60-27, www.mucoviscidos.ru).

Associations of Cystic Fibrosis Patients

Patients need organizational support and protection of their rights. Parental associations are being created for this purpose, but their efforts are not enough. Like all suffering people, those with cystic fibrosis simply need so that they are not abandoned, so that they are taken care of, so that they are taken care of.

The opportunity to constantly communicate with parents also raising children with cystic fibrosis is very important for them. The Association for Helping Patients with Cystic Fibrosis (chairman of the association is Natalya Bogdanova) in the Krasnoyarsk Territory was founded in 1998. The main goal of creating the Regional Center for Cystic Fibrosis and the Association was to provide medical care to patients with this pathology, assistance in diagnosis when making such a serious diagnosis, as well as providing rehabilitation measures. The activities of the Association are related to providing children with missing medications and providing moral, material and social assistance to their parents. Organizations take an active part in carrying out acts of mercy and charity, concerting the efforts and capabilities of state, public, private institutions, enterprises, foundations, banks, associations, commercial structures, as well as individuals to increase opportunities for the treatment of children with cystic fibrosis. The association united more than 30 families of the Krasnoyarsk Territory with children with cystic fibrosis.

By combining their efforts, parents represent an effective and efficient force for solving the problems of medical and social adaptation of families with a child with cystic fibrosis.

According to the Ministry of Health and Social Development, about 2,500 people live with this diagnosis in Russia. However, the real figure is 4 times higher.

Some of the first symptoms of the disease are severe, painful and shortness of breath. In the lungs, ventilation and blood supply are disrupted, and inflammatory processes develop due to the accumulation of viscous sputum. Patients often suffer from pneumonia and pneumonia, sometimes already from the first months of life.

Due to a lack of pancreatic enzymes, patients with pancreas have poor digestion of food, which is why such children, despite an increased appetite, are behind in weight. They have copious, greasy, foul-smelling stools that are difficult to wash out of diapers or from the potty, and there is rectal prolapse. Due to stagnation of bile, some children develop liver disease and gallstones may form. Mothers notice a salty taste in their baby's skin, which is associated with increased loss of sodium and chlorine through sweat.

2. Which organs does the disease primarily affect?

Cystic fibrosis affects all endocrine glands. However, depending on the form of the disease, either the bronchopulmonary or the digestive system is primarily affected.

3. What forms can the disease take?

5. Does the disease affect a person’s mental development?

7. Can the disease only appear in adulthood or do symptoms appear from birth?

8. Can sick children play sports, or should they have a gentle regime?

It is not only possible to play sports, but even necessary - physical activity helps to evacuate phlegm more effectively and maintain good performance. Swimming, cycling,

horse riding, and most importantly, the sport that the child himself gravitates towards. However, parents should be careful about traumatic sports.

14. Should a doctor be present during the exercises?

At the initial stage, the attending physician or kinesiotherapist must be present at each massage session; later, parents can learn therapeutic massage themselves.

If both parents are carriers of a mutated gene, but are not sick themselves, the probability of having a sick child is 25%.

18. Is it possible to diagnose this disease in the early stages of a woman’s pregnancy?