The first signs of cystic fibrosis in children. Cystic fibrosis in children: symptoms and treatment

Cystic fibrosis in children is one of the most well-known pathologies that are genetic in nature. This disease affects the exocrine glands, as well as the organs of the respiratory system.

Pediatric cystic fibrosis also has another name - cystic fibrosis. Cystic fibrosis in a child is most often diagnosed in early age(during intrauterine development or until the baby reaches 2 years of age).

The main difficulty in detecting such a pathology is that it is completely impossible to cure it. There are certain correction methods, but the statistics are still disappointing. Patients with cystic fibrosis rarely live longer than 24 years. There are only 2 known cases where patients with this pathology lived more than 35 years.


After reading this article, you will learn what kind of disease cystic fibrosis is, how the pathology is diagnosed, for what reasons the disease develops, what forms cystic fibrosis is divided into, and also about the features of treatment and prognosis for this disease.

The cause of cystic fibrosis is a mutation in a special gene that regulates the thickness of mucous secretions. Exocrine glands stop functioning properly. The consequence of this is a failure in the coding of the protein involved in the transport of ions of a substance such as chlorine through cell membranes.

As a result of a malfunction, the exocrine glands begin to secrete thicker mucus. The width of the glandular ducts becomes larger, because secretions (tears, sweat, mucus) must still be excreted. Gradually, cysts form on the ducts (most of these tumors occur on the respiratory and digestive organs).


Then the tissues of the exocrine glands undergo dystrophic changes, against the background of which fibrosis develops (when glandular tissues are replaced by connective tissues), and signs of early sclerosis appear. In many cases, this pathological condition is accompanied by secondary purulent infection.

This is interesting! Cystic fibrosis is one of the hereditary diseases of the autosomal recessive type. This means that both parents of an ill child can have the pathology. It is also worth noting the fact that a person can be a normal carrier of a pathological gene and not suffer from cystic fibrosis. There are no pathological changes observed in the body of such people.

Cystic fibrosis causes inflammation in the exocrine glands. The inflammatory process occurs due to stagnation of mucus in the ducts, which becomes the cause of their infection with pathogenic microflora (for example, Haemophilus influenzae or Pseudomonas aeruginosa, Staphylococcus aureus).


To date, approximately 2000 types of mutations of the gene that regulate the functioning of the exocrine glands are known. According to statistics, if both parents are carriers of a pathological gene, then the risk of having a baby with cystic fibrosis is 25%.

Interestingly, a child with cystic fibrosis can be born even to parents who are healthy but belong to carriers of this pathology.


Symptoms of the disease

Symptoms of cystic fibrosis in children are varied. Their manifestation depends on several factors:

  • the degree of pathological changes in certain organs of the human body;
  • age of the sick person;
  • degree of sclerotic signs;
  • diagnosing additional complications of the disease.

The first signs of cystic fibrosis appear in infants, in the 1st year of life. It is rare, but there are still cases when the symptoms of cystic fibrosis first appear at an older age. Doctors say that the severity of the course and the seriousness of the prognosis for this disease depend on the age at which it is detected. The earlier the pathology develops, the worse it is for the patient.


Cystic fibrosis in children affects the following vital organs:

  • glands of the respiratory system;
  • pancreas;
  • sweat and salivary glands;
  • liver;
  • genital glands;
  • glands located in the walls of the gastrointestinal tract.

characteristic changes in fingers in cystic fibrosis

Age-related symptoms of the disease

In children, the symptoms of pathology can be different and depend on the age of the baby. In the table below, the signs and manifestations of the disease are grouped according to the age of the child.

Newborn

The first signs of cystic fibrosis can occur already in the early postpartum period. Often a newborn baby with this pathology develops intestinal obstruction. The first stool (meconium) is too thick, causing a blockage in the intestinal passage. According to statistics, 15-20% of children diagnosed with cystic fibrosis develop this condition.


Clinically, intestinal obstruction is characterized by the following symptoms:

  • vomiting mixed with bile;
  • bloating;
  • pale and dry skin in a baby;
  • increased lethargy, refusal of the newborn to breastfeed;
  • high salinity of the skin;
  • prolonged jaundice;
  • poor weight gain.

If therapeutic measures are not taken in time, the child develops intestinal volvulus, the intestinal walls are perforated, and its lumen becomes overgrown. In such a severe case, the only way to effectively treat is surgery.

Baby


In newborns, symptoms of cystic fibrosis most often occur after the start of feeding or transfer of the baby to artificial feeding. Signs of this pathology in infants include:

  • thick, with sharp unpleasant smell, fatty feces
  • increase in liver size;
  • in some cases, rectal prolapse occurs;
  • dry skin;
  • slow physical development of the baby;
  • deformation of the chest in an infant;
  • the skin takes on an earthy color;
  • severe bloating;
  • excessive thinness, especially noticeable in the limbs;
  • a lingering dry cough appears;
  • difficulty breathing occurs due to the accumulation of thick mucus in the respiratory organs (bronchi);
  • the phalanges of small fingers become like drumsticks.

It can be difficult to diagnose cystic fibrosis in an infant at an early stage, due to the mild severity of the symptoms.

Depending on individual characteristics In a child's body, cystic fibrosis can provoke the development of repeated bronchitis or pneumonia. Against this background, a constant dry cough appears, sometimes with vomiting.


There is continuous shortness of breath, the child suffers from sleep disturbances. The shape of the chest gradually becomes barrel-shaped.

Due to the accumulation of thick mucous secretion in the pancreatic ducts, the digestive processes are disrupted. This happens due to the fact that the necessary enzymes stop entering the duodenum.

During this period, the baby’s appetite remains intact, but body weight decreases.


IN children's body There is a lack of vitamins B and D, the level of proteins decreases and as a result edema occurs and symptoms of anemia appear.

Teenager

IN adolescence Cystic fibrosis manifests itself in the form of the following symptoms:

  • delays in physical development;
  • damage to the respiratory system (bronchi, lungs);
  • inflammation of the paranasal sinuses chronic form;
  • polyps in the nasal cavities;
  • delays in sexual development;
  • development respiratory failure due to impaired lung function;
  • high body temperature during exacerbation of the disease;
  • increased dry cough and shortness of breath;
  • the occurrence of diabetes mellitus due to pancreatic insufficiency;
  • internal bleeding caused by varicose veins in the esophagus;
  • the formation of hepatic cirrhosis due to gradual defeat liver;
  • inflammatory processes in gallbladder and esophagus, stomach ulcers, develop due to intestinal cystic fibrosis digestive system;
  • development of rotting processes in the intestines, causing increased gas formation and attacks of abdominal pain;
  • frequent stools, foul odor feces;
  • pale skin;
  • coughing attacks, sometimes accompanied by vomiting;
  • fever and increased temperature;
  • discharge of sputum with pus;
  • bowel dysfunction (fatty stool, which is often liquid or too thick);
  • bloating.

As you can see, symptoms in newborns and symptoms in older children have a range of characteristic differences and features.

In this regard, completely different treatment tactics are used.

Forms of childhood cystic fibrosis


Cystic fibrosis occurs in 3 forms.

  1. Pulmonary. This type of disease occurs in 15-20% of cases. Pathology develops due to the overflow of the bronchi with thick mucus. In this secretion, pathogenic microbes and bacteria begin to develop. Gradually, the bronchi may become completely clogged. Tissue atrophy occurs in the lungs, they become dense and hard, and cysts form on their surface. Without treatment, the situation with cystic fibrosis of the lungs can worsen so much that the child can die from suffocation.
  2. Intestinal. This form of childhood cystic fibrosis causes disturbances in the functioning of the digestive organs. Food that enters the baby’s body does not have the ability to be digested normally. The consequence of this negative condition is the development of liver cirrhosis, diabetes mellitus or stomach ulcers in the child. Among the total number of cases, intestinal cystic fibrosis occurs only in 5%.
  3. Mixed. This form combines symptoms of both pulmonary and intestinal cystic fibrosis. It is found in 75% of people with this genetic disease.
  4. Atypical. Diagnosis of this form of the disease is rare. According to statistics, it is detected in only 1% of cases.

Each form of cystic fibrosis has its own characteristics, and they will be discussed further.

Features of the pulmonary form of cystic fibrosis

The pulmonary form of cystic fibrosis is also called respiratory.


The disease is usually diagnosed immediately in a newborn child.

Cystic fibrosis in children is characterized by the following set of symptoms:

  • lethargy, apathy;
  • dry cough that gradually gets worse;
  • pale skin;
  • when coughing, thick sputum is produced;
  • gas exchange in the body is disrupted;
  • the thickness of the fingertips gradually increases;
  • severe pneumonia develops;
  • inflammation occurs with suppuration in the tissues of the respiratory organs;
  • If left untreated, pneumonia progresses to the chronic stage;
  • the likelihood of connective tissue growth in the lungs of a small patient increases;
  • the skin later acquires an earthy tint;
  • there is weight loss due to decreased appetite;
  • shortness of breath appears (even when the person is at rest).

The pulmonary form of cystic fibrosis in children has 4 stages.

  1. A cough appears, without sputum or expectoration. Sometimes the patient complains of shortness of breath. The main feature of this stage is the duration of its course (there are cases when the first period of pulmonary cystic fibrosis lasted up to 10 years).
  2. Developing chronic bronchitis, the phalanges of the fingers begin to change. When you cough, sputum is produced. The duration of this stage is up to 15 years.
  3. This stage is characterized by the development of complications. Seals appear in the lung tissues, and the consequence of this process is the formation of cysts. Problems arise in the functioning of the heart. This period of cystic fibrosis lasts from 3 to 5 years.
  4. The duration of stage 4 of the disease is several months. Severe damage to the respiratory and cardiovascular system. Therapy is ineffective and death occurs.

It is important to start treatment for cystic fibrosis on time to prevent serious complications and correct the course of the disease.

How does intestinal cystic fibrosis occur?


Cystic fibrosis of the intestinal type provokes disruptions in the functioning of the digestive system. This form of pathology most often manifests itself in the period after the newborn baby starts feeding (breastfeeding or artificial feeding). The baby exhibits the following symptoms:

  • absorption of fats and proteins deteriorates;
  • rotting processes develop in the intestines, causing bloating and the formation of toxins;
  • the number of bowel movements increases significantly;
  • there are cases where a child’s rectum prolapsed due to cystic fibrosis;
  • if the disease enters a progressive stage, body weight begins to decrease;
  • dryness appears in the mouth;
  • multivitaminosis, a lack of all groups of vitamins caused by disruption of the digestive system;
  • decreased skin elasticity due to loss of muscle tone;
  • various pains appear in the abdominal area;
  • arises later peptic ulcer stomach, diabetes;
  • the liver and kidneys stop functioning fully;
  • the color of stool may turn black;
  • the blood carries toxins accumulated in the body to the brain, and as a result, the nerve cells, the patient develops encephalopathy;
  • the spleen increases in size.

Photo of cystic fibrosis intestinal form and its consequences demonstrates how serious and irreversible pathological changes in intestinal tissue can be. Timely initiation of therapy for the disease resulting from gene mutation, will help prevent the most adverse consequences, and also avoid irreversible damage to organs and systems. At the same time, the intestinal form has a number of features when treatment is carried out in children.

Mixed cystic fibrosis and its features

The mixed form of cystic fibrosis combines symptoms of pulmonary and intestinal types of pathology. The following manifestations of the disease are observed in newborn children:

  • long and frequent inflammations lungs;
  • bronchitis, often becoming chronic;
  • dry cough;
  • loose green stools;
  • bloating.

Severity of the leak mixed form Cystic fibrosis depends on the age at which the pathology is detected.

How smaller baby, the more unfavorable the prognosis for treatment of mixed cystic fibrosis will be for him.

Pediatric cystic fibrosis and features of its diagnosis

Timely diagnosis of cystic fibrosis has important for the patient.


After all, the sooner cystic fibrosis is detected, the faster doctors will be able to correct it.

To put accurate diagnosis, medical specialist carries out a range of activities, including:

  • collects and studies the patient’s hereditary history, is interested in the clinical manifestations of the disease;
  • studies data laboratory research blood and urine of the patient;
  • conducts microbiological examination of sputum;
  • performs bronchoscopy (to diagnose endobronchitis of the catarrhal-purulent type);
  • does bronchography (the procedure helps to identify deformed areas of the bronchi, the presence of bronchiectasis of various forms);
  • conducting an X-ray examination of the lungs, which helps to diagnose sclerotic changes in the bronchopulmonary system;
  • performing genetic molecular tests, which involve analyzing blood or DNA samples to help identify the gene mutation;
  • definition functional state lungs through spirometry techniques;
  • determination of sweat electrolytes using special test(helps to identify excess levels of chlorine and sodium ions, characteristic of developing cystic fibrosis);
  • prenatal examination, which is carried out for all newborns in order to identify congenital pathologies that are genetic in nature.

It is possible to examine the baby while still in the womb to determine the likelihood of him contracting cystic fibrosis. If the mother’s family has relatives suffering from such a hereditary pathology, then with the doctor’s permission she can undergo amniotic fluid testing at 18-20 weeks.

Below are pictures of cystic fibrosis in different age groups of children:

Specifics of treatment of cystic fibrosis in children


Treatment of cystic fibrosis in children can be carried out in a hospital setting or at home. It all depends on how severe the form of the pathology is. Main goal therapeutic effect is relief general condition small child and reducing the risk of complications. Unfortunately, modern medicine does not have funds for complete cure cystic fibrosis, but she has many methods for correcting such hereditary pathology.

Gives a good effect complex treatment cystic fibrosis. The treatment plan for the disease also depends on its form. The following table presents the features of treatment of pathology that has a pulmonary or intestinal form.

Type of diseaseWhat medications are prescribed?Description of medicines
Pulmonary typeAntibioticsCystic fibrosis provokes the emergence of pathogenic flora in the body, which provokes the development of inflammation. Antibiotics help remove it. Depending on how sensitive the inflammatory agent is, the doctor prescribes fluoroquinolones, aminoglycosides or 3rd generation cephalosporins. medication is administered by inhalation or intramuscular injection.
BronchodilatorsInhalations using bronchodilators are prescribed to a patient when he is diagnosed with bronchospasm syndrome.
MucolyticsMucolytic drugs in the form of inhalation drugs. These include Fluifort, ACC, Pulmozyme, Amiloride. The administration of bronchodilators is often carried out using bronchostop. After this, the mucous secretion with the remains of the drug is suctioned, and then the mucolytic is injected directly into the bronchi.
Corticosteroids, non-steroidsThey help to quickly stop inflammation and prevent worsening of suppuration.
Breathing exercises (kinesinotherapy)A special set of exercises that helps free the bronchi and airways from accumulated mucus. Training should be done every day, throughout your life.
Intestinal typeEnzymatic drugsPancetrat, Creon, Pancreatin and Mezim-forte give a good effect
Hepatoprotective drugsPrescribed by a doctor in the presence of lesions in the liver tissue. Medicines such as Gepabene, Glutargin, Enerliv provide a good therapeutic effect. If a patient develops liver failure, he is recommended to undergo a liver transplant. If the disease severely affects the lungs, then an operation to transplant them is possible.
Quality foodThe calorie content of the food that a child eats, as well as its saturation with microelements and vitamins, should be higher than required according to age standards. A small patient is prescribed protein diet and do not limit the amount of fat consumed. But there is a strict condition - you need to regularly follow the course of taking enzymatic medications.
Vitaminizing compositionsA patient suffering from cystic fibrosis must regularly take medications containing a complex of microelements and vitamins.

Which doctor is treating you?

Cystic fibrosis in children is usually treated by a pediatrician. But if the pathology is identified before the baby is born, then its correction is initially carried out by a neonatologist. In addition, parents should regularly show the baby to an ENT specialist, endocrinologist, or gastroenterologist. Consultations with geneticists are also required.

What are the forecasts

Cystic fibrosis is a serious pathology, and it is completely impossible to cure it. The degree of favorable prognosis will depend on the presence (absence) of complications, as well as on the timing of diagnosis of the first symptoms of the disease. Medical statistics demonstrates that the prognosis is worse for those children whose first symptoms of the disease appeared in infancy. A positive treatment outcome occurs with early diagnosis of cystic fibrosis and correct, targeted treatment of the newborn.

If you look at the statistics, you can see that childhood mortality from cystic fibrosis has decreased significantly over the past 50 years (from 80% to 36%). Many children with this hereditary pathology have increased life expectancy thanks to the achievements of modern medicine.

Best prevention measures

The best method of prevention if there are genes for cystic fibrosis in the family is careful planning of pregnancy, obtaining consultations from specialists in the field of genetics and conducting genetic diagnostics.

Parents of a young child diagnosed with cystic fibrosis need to be prepared for serious difficulties and limitations. They must know the following important rules:

  • a small patient needs to be vaccinated against whooping cough and similar diseases in a timely manner;
  • all potential allergens should be excluded from the baby’s area of ​​residence (this could be feather pillows, blankets, animal hair);
  • children with such a diagnosis must undergo sanatorium treatment annually;
  • in the presence of a child suffering from a congenital hereditary pathology, you should not smoke;
  • the amount of salt in the diet of a sick child needs to be slightly increased;
  • The baby’s menu should be rich in fatty foods that improve the absorption of beneficial components;
  • the child needs daily use enzyme medications and drinking plenty of fluids;
  • basic treatment, with the permission of a doctor, can be supplemented with therapy using drugs from people's piggy bank(elecampane, dandelion, coltsfoot, marshmallow, lavender or basil essential oil for inhalation, honey for general strengthening of the child’s body).

Parents whose baby has cystic fibrosis should provide the necessary psychological support. To do this, they need to know as much information as possible about this genetic disease in order to overcome obstacles and disruptions in the body’s functioning together with the baby. Communication with those families who are faced with a similar pathology helps a lot. You can study information and opinions of other parents on special Internet forums.

Remember that a diagnosis of cystic fibrosis is not a death sentence. Now medicine continues to develop, and in America many scientists are working to study this genetic disease. It is likely that over time a cure for this disease will be developed. By the way, we also recommend viewing the “Live Healthy” program, which examines this problem in detail:


We hope that this article has revealed the problem of cystic fibrosis in a child and if you detect cystic fibrosis symptoms, you will consult a specialized doctor in time.

Cystic fibrosis - (from the Latin mucos - mucus and viscidus - viscous) - the most common hereditary disease that affects all organs that secrete secretions (glands that produce mucus, digestive juices, sweat, saliva, gonads). In this regard, the secretions in all organs are viscous, thick, and their separation is difficult.

— genetic disease which 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, the environmental situation, the age of the parents, smoking, and parental acceptance do not play any role. alcoholic drinks, any medicines, 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% with 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, blockage occurs. small intestine thick and viscous meconium (original feces). With rare exceptions, the presence of meconium ileus indicates cystic fibrosis.

Prolonged jaundice after birth 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, is noted to be persistent. The glands of the mucous membrane lining the respiratory tract produce a large amount 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 in the first month of life, pancreatic tissue is replaced 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.

A very important sign of 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.
  2. 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 blood of a child. In the blood of newborns suffering from cystic fibrosis, its content is almost 5-10 times increased. This analysis is performed if cystic fibrosis is suspected.
  3. 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(by electrophoresis) the drug is injected into the skin and stimulates sweat glands. The collected sweat is weighed, then the concentration of sodium and chlorine ions is determined. For a final conclusion, 2-3 sweat tests are required.
  4. 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.
  5. 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 wish 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. If each pregnancy occurs, you must immediately (no later than 8 weeks of pregnancy) contact the prenatal diagnostic center, where at 8-12 weeks of pregnancy the doctor will genetic diagnostics 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 Freon 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 the digested food and restores the normal digestion process. 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 antibacterial therapy when pathogens are detected, they last 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 than conventional drugs (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 the increased need for them during 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 pain (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 in the first year of life is breast milk. If it is possible to use special mixtures, the doctor will recommend them. The diet of a child suffering from cystic fibrosis should be 120-150% of the 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. A small child cannot swallow the capsule whole, so granules from the capsule are poured onto a spoon, mixed with milk, formula or juice and given to the child at the beginning of a 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, 2 times the volume age norm. If your child has abnormal stools (frequent, fatty, unformed, foul-smelling), or if abdominal pain occurs, 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 parents (the child cannot be left alone even in adulthood, frequent consultations with the attending physician are necessary, feeding the child six times a day after he reaches 1 year of age, regular medication intake requires constant monitoring). Smoking among family members should be completely eliminated.

Carrying out preventive vaccinations

Preventive vaccinations for a child must be done according to the usual schedule - in accordance with vaccination calendar. In case of exacerbation of the bronchopulmonary process, the vaccination schedule must be agreed upon with the pediatrician. It is advisable to do it in the autumn.

Quick page navigation

What kind of disease is this? Cystic fibrosis is a genetically determined systemic disease, characterized by damage to the exocrine glands (exocrine glands) that control external life processes - sebaceous, sweat, mammary and lacrimal glands, which secrete their secretions into outer surface the body and its internal environment.

This is the most common of hereditary diseases. Cystic fibrosis develops against the background of a mutation in the gene responsible for regulating the active transport of electrolytes (mainly chlorine) through the plasmatic structure (membrane) of the cells lining the ducts of the exocrine glands. As a result of mutation, structural and functional changes occur in the synthesized protein.

This process leads to the fact that the secretion secreted by the glands acquires a thick and viscous structure. Removing it from the body causes certain difficulties and negatively affects certain organs. Violations provoke in organs various kinds changes in the intrauterine development of the child.

The glandular tissue of organs is gradually replaced by connective tissue, cells (fibroblasts) secrete a specific substance that stops the functions of the ciliated epithelium, which plays an important role in the removal of secretions. Changes in organs continue after the birth of a child, acquiring an increasing character, manifesting themselves:

  • in 20% of cases the bronchopulmonary form of cystic fibrosis;
  • almost 10% are in shape congenital obstruction small intestine (blockage ileum– meconium ileus);
  • in 5% of cases – intestinal form;
  • up to 65% - a mixed form of pathology (mainly pulmonary intestinal.)

In some cases, the disease has other forms of manifestation:

  • hepatic - with the characteristic development of abdominal dropsy (ascites) and necrosis and dystrophic change in liver tissue (cirrhosis):
  • electrolyte, characterized by signs of an isolated disturbance (hydration or dehydration - dehydration, or excess water in the body) of electrolyte balance;
  • erased;
  • atypical.

The clinical picture of cystic fibrosis is characterized by phases of remission and exacerbation, which can manifest themselves in a low-active or moderate course.

If chromosomal mutations occur during the birth of the child’s body, nothing can be corrected. Therefore, cystic fibrosis is classified as incurable diseases, but far from fatal - although it was recently considered so. At proper treatment cystic fibrosis, it is possible to extend the life of patients for many years.

To assess the seriousness of the pathology and understand what kind of disease cystic fibrosis is, the symptoms and clinical signs of the disease that you need to pay attention to will help.

To one degree or another, the disease leads to damage to all exocrine glands. This is what causes the varied manifestation of symptoms of cystic fibrosis in children - from signs of diarrhea to asphyxia. This whole wide symptomatic range of signs of the disease makes parents wary and pay attention to them.

The first symptoms of cystic fibrosis usually appear in the first year of a child’s life. Very rarely (in 10 babies out of a hundred) they are diagnosed immediately after birth.

All mothers are familiar with the first bowel movement of a newborn baby. It differs significantly from normal feces both in color (dark, like tar) and in consistency, reminiscent of plasticine. In neonatology, such feces are called “meconium”. It is these original feces that can clog the intestine. This is one of the first symptoms of cystic fibrosis in newborns.

Due to the thick mucous digestive secretion, the normal passage of meconium is disrupted. In one of the sections of the intestine it stagnates, blocking the passage of gases and residues. dairy nutrition. Above the blocked area of ​​the intestine, it stretches, sometimes causing damage to the intestine and the penetration of harmful toxins into the child’s blood.

Without timely intervention, intestinal rupture may occur and lead to the development inflammatory processes V abdominal cavity. In this case, mortality is possible due to a large number toxins entering the blood.

A child is not able to complain about abdominal pain, but cystic fibrosis in an infant can be diagnosed by the baby’s behavior and external signs:

  • For a long time, newborn babies do not have stool and gases do not pass away.
  • The child cries hysterically and his cry intensifies when he feels the abdomen. He can lie motionless, as the slightest movements are reflected in pain.
  • Upon inspection, you can see bloated belly, and sometimes even an intestinal contour with a characteristic compaction.
  • Upon palpation, an area of ​​obstruction with a dense and swollen intestinal wall is easily identified. Can be compared with the normal underlying segment of the intestine.

At the slightest suspicion of cystic fibrosis, an urgent assessment of the child’s condition by a doctor is necessary.

Symptoms of cystic fibrosis in infants usually appear at six months of age. Their character is varied, but among the main ones are lack of weight gain, developmental delay and problems in the respiratory system. It is possible to suspect a serious pathology only if there is a combination of signs caused by the child’s obvious weight loss, disturbances in respiratory functions and the presence constant problems with defecation.

Other reasons may also hinder a child’s development: an unbalanced diet, past infections in the gastrointestinal tract, or endocrine diseases. Changes occur in the structure of feces - it can be liquid, change its consistency to thick, acquiring fat and shine.

Respiratory disorders manifest themselves:

  • A persistent dry cough that weakens with treatment and reoccurs after treatment. Due to constant supine position, at night the cough intensifies, which takes on a paroxysmal character.
  • Episodes of asphyxia (suffocation), which occurs due to blockage of a section of the respiratory tract with thick mucous secretion. The child is choking and coughing violently. When you cough, a clear or dirty green mucus plug may come out, either clear or infected with bacteria.
  • Frequent development of varying complexity of rhinitis, pharyngitis, bronchitis and others respiratory infections. Not infrequently, the disease can be disguised as signs of bronchitis, which occurs in a chronic form with frequent exacerbations that are difficult to treat.

Without adequate treatment, the symptoms of cystic fibrosis gradually develop as the child grows older and take on a relapsing, chronic nature. But with effective preventive therapy, the disease can be controlled and relapses can be prevented.

Characteristic symptoms of cystic fibrosis in adults

Even despite the most effective preventive treatment diseases in childhood, in adults, the symptoms of cystic fibrosis are supplemented by new manifestations that reflect damage to various organs and systems of the body:

  • violations of the act of defecation;
  • swelling of the venous vessels of the abdomen, legs and esophagus;
  • swelling of the entire lower half of the body.

Rarely, but as a result of cystic formations in the main exocrine gland (pancreas), it develops. There are signs of liver failure that develop against the background of replacement of the glandular tissues of the organ with connective tissue, causing:

  • severe manifestation of hemorrhages;
  • attacks of fatigue and weakness;
  • migraines and nausea;
  • development of swelling in any area of ​​the body.

On the part of the respiratory system, disorders are manifested by signs of atelectasis - focal “collapse” of lung tissue caused by blockage of the bronchial branches with mucous secretion. This condition is accompanied by:

  • signs of dyspnea and dry cough;
  • infections in the respiratory system caused by the addition of infectious agents;
  • manifestation of hemoptysis associated with disorder processes mucous membrane bronchus.

Problems in respiratory functions are accompanied by the gradual overgrowth of small bronchial branches with thick mucous secretion. At the same time, gas exchange processes in the lungs and heart are disrupted. At first, the organs successfully cope with the additional load. Gradually, the heart's compensatory reserve is depleted. It increases in size functionality it is being exhausted.

There is stagnation of blood in the cavity of the heart and lungs, causing the development of PHF (pulmonary heart failure) with characteristic symptoms:

  • shortness of breath – occurring at the beginning, after any exertion. As the disease progresses, it occurs involuntarily, without any influence;
  • cough with sputum, caused by stagnation of blood in the lungs with subsequent sweating of plasma;
  • pale skin caused by lack of oxygen;
  • changes in the configuration of the distal digital phalanges and nail plates.

The last two signs indicate a severe form of SLS, which is impossible to get rid of.

Cystic fibrosis in men can cause infertility. Despite the normal secretion of seminal fluid, its release during ejaculation becomes impossible due to the formation of a mucus plug in the ducts.

Most of these signs of cystic fibrosis are self-limiting medications, but in many cases, changes in some systems and organs are irreversible. Therefore, timely diagnosis and treatment of cystic fibrosis in children and adults can prevent the development of severe disease.

Diagnosis of cystic fibrosis, tests and analyzes

Standard method laboratory diagnostics diseases are tests for cystic fibrosis:

1) Test to detect the level of immunoreactive trypsin. It is carried out in the first month of a child’s life. Indicators exceeding permissible level up to a dozen times or more are a diagnostic criterion for the disease. False data can be caused by hypoxia suffered at birth in a child.

2) A sweat test that detects the level of sodium and chlorine concentration in a portion of sweat.

3) It is possible to detect the disease in a child in the prenatal period at ten weeks of pregnancy using DNA testing. Blood samples for analysis are taken from the umbilical cord. Such research is also carried out on parents at risk.

Instrumental diagnosis of cystic fibrosis in children and adults is very extensive. It is carried out to identify indirect symptoms that may indicate a disease. The main ones:

  • bronchographic examination of lung tissue and bronchial tubes;
    X-ray and CT scan of the sternum, which allows to identify changes in bronchopulmonary tissues (mucus accumulations, cystic formations, inflamed areas and enlarged lymph nodes);
  • grade respiratory functions spirography method;
  • Ultrasound of the peritoneal organs;
  • coprogram method, which allows you to assess the digestive functions of the gastrointestinal tract system;
  • methods of fibrogastroduodenoscopy and other techniques according to indications.

When a pulmonary form of cystic fibrosis is detected, tests are performed to identify the fungal pathogen - spergillosis. The test is positive if three criteria for the disease are detected - the presence of infiltrate in the pulmonary fields and “E” immunoglobulin.

Treatment of cystic fibrosis in children and adults, drugs

What does the term “treatment” mean for such a pathology? As such, there is no single, approved protocol for the treatment of cystic fibrosis in children and adults. A comprehensive symptomatic therapy, to prevent complications and maintain normal life processes in the body in the form of ordinary medical procedures and prescription of drugs:

  1. Inhalation and injection antibiotic therapy procedures for inflammatory processes. The choice of drug is based on the sensitivity of the isolated pathogen.
  2. Internal administration and inhalation of drugs that help thin sputum and restore the functions of the ciliated epithelium in respiratory tract. These are the drugs "Fluifort", "ACC", "Pulmozim" or "Amiloride".
  3. Antibiotics are directly introduced into the bronchi using the bronchoscopic method, followed by suction of thick secretions. Bronchospastic syndrome is relieved by inhalation of bronchodilators in the form of Epinephrine, Isoprenaline, Berodual, Theophylline, Theobromine, Nedocromil or Ketotifen.
  4. To quickly stop inflammatory processes, anti-inflammatory drugs can be used - Ibuprofen, Naproxen, Sulindac, Ketoprofen.
  5. An individual daily and lifelong course of kinesiotherapy is selected - complex breathing exercises that help with the discharge of sputum.
  6. For symptoms of damage digestive functions in the gastrointestinal tract, a standard course of drugs with enzymes is prescribed - “Pancreatin”, “Pancitrat”, Mezima-forte”, “Creon”. For symptoms of liver damage - “Enerliva”, “Gepabene”, “Glutargin”, “Essential”.
  7. At severe lesions liver and lungs, the patient is offered an organ transplant.

It is mandatory to take vitamin-mineral complexes and a nutritious, high-calorie diet, enriched with protein foods and fats, with the mandatory use of drugs with enzymes.

The prognosis for treatment of cystic fibrosis depends on the duration of clinical manifestations and the absence or presence of complicated processes. The outcome is influenced by early diagnosis and the effectiveness of targeted therapy. Today, with modern methods of maintenance therapy, mortality is observed in only 30 cases out of 100. Many patients live up to 50 years or more, have a full-fledged family and children.

Cystic fibrosis is a disorder that manifests itself at the genetic level.. During the disease, all glands in the body are affected, causing secretory functions to be impaired.

The little patient is forced to take medications for life and periodically go to the hospital during exacerbations. Parents play an important role in the treatment of the child. They must comply with everything medical recommendations, and also constantly show the baby to the doctor.

In the absence of proper therapy, cystic fibrosis (also called cystic fibrosis of the lungs) provokes diseases of the respiratory system, problems with the liver, spleen and gastrointestinal tract.

Such heredity

Cystic fibrosis is the most common genetic disease. Its cause is a mutation at the gene level, which disrupts the regulation of the thickness of mucus produced by the body.

The viscosity of the secreted secretion provokes its stagnation in the ducts, and excretion worsens. This, in turn, contributes to the attachment of an infection, for which the accumulated mucus is an excellent place for life.

If both parents have a mutated cystic fibrosis gene, the likelihood of their child developing this disease is about 25%, carrier status is 50% of cases. Moreover, each subsequent pregnancy does not reduce these risks.

Early diagnosis is complicated by the fact that carrier status is not externally manifested by parents, so they may not even be aware of the danger that awaits them.

Types of cystic fibrosis

Signs of cystic fibrosis in children depend on the form of the disease. The disease occurs in stages of remission and exacerbation, from which symptoms can manifest themselves in different ways. To one degree or another, cystic fibrosis affects all types of glands, including the pancreas, salivary, sweat, genital glands, and the functioning of the glands is also disrupted bronchopulmonary system, liver and gastrointestinal tract.

Forms of the disease:

  • pulmonary;
  • intestinal;
  • pulmonary-intestinal (mixed).

In every child, cystic fibrosis may be accompanied by various manifestations. Depending on them, several forms of genetic disease are also distinguished:

  • atypical;
  • erased;
  • hepatic;
  • electrolyte;
  • Meconium obstruction.

The most common form of the disease is the mixed one. During it, manifestations are observed from all affected organs and systems, which requires constant monitoring of the condition of the baby.

It is impossible to independently determine the disease by its manifestations. To do this, you need to contact a pediatrician and carry out a multi-stage diagnosis.

Symptoms of the disease in children

Symptoms of cystic fibrosis vary depending on the age of the child. The first manifestations of the disease may appear immediately after the birth of the baby, others make themselves felt in infancy or even adolescence. The anamnesis of each baby will differ in its characteristics and severity of the clinical picture.

Newborn

Often the first signs of cystic fibrosis appear immediately in postpartum period. The main symptom that should alert you is the absence of meconium. It becomes thick and does not move well through the intestines. This condition is called meconium ileus.

Main features:

  • severe bloating;
  • pale and dry skin;
  • the baby is lethargic, apathetic;
  • partial or complete failure from the chest;
  • vomit;
  • prolonged neonatal jaundice.

In severe cases, narrowing or perforation is observed intestinal walls, which causes emergency surgery.

However, this disease does not always manifest itself as intestinal obstruction in a newborn. A slight weight gain in the first months of life is often a cause for concern.

Cystic fibrosis in newborns can be recognized by its “calling card”. To do this, you should kiss the baby. During the disease, his skin begins to taste salty, this is explained by excessive deposition of salt crystals on the surface of the epidermis.

Infant

In infants, the disease begins to manifest itself after switching to artificial feeding or as a result of the introduction of complementary foods. Clinical picture can be quite diverse and differ in degree of expression. Often, mild manifestations of the disease can complicate the diagnosis, making it difficult to make a correct diagnosis.

Signs that should alert you:

  • change in the nature of stool (stench, appearance of clots, mucus);
  • enlargement of the liver, due to which it can be felt;
  • significant developmental lag behind peers;
  • earthy color of the epidermis;
  • regular nonproductive cough, breathing problems;
  • chest deformation;
  • fingers in the form of “drum sticks”;
  • significant underweight in the baby.

Often, cystic fibrosis in infants causes persistent bronchitis and pneumonia, which ultimately leads to chronic obstructive pulmonary disease (COPD).

The child is bothered by a constant non-productive cough, the mucus is practically not separated, which can lead to vomiting. Often there is a change in the chest, which becomes barrel-shaped.

If a baby has been diagnosed with cystic fibrosis, soy formula and cow's milk are strictly contraindicated.

Disturbances in the functioning of the pancreas provoke problems with weight loss. The baby’s body weight decreases, but the appetite does not always deteriorate. Chronic vitamin D deficiency occurs, which can cause a disease such as rickets.

Teenager

Cystic fibrosis in adolescents is characterized by outbreaks of exacerbation and subsequent remission. Damage to the two main systems of the body (digestive and bronchopulmonary) provokes the development of many diseases. The child constantly suffers from problems with the respiratory system, often gets sick, and somatic symptoms may occur.

Manifestations of the disease in adolescents:

  • reluctance to perform even the slightest physical activity;
  • regular exacerbations of lung diseases;
  • retarded physical and mental development;
  • presence of diabetes mellitus;
  • cirrhosis;
  • swelling of the veins in the esophagus, which causes internal bleeding;
  • inflammation of the digestive organs, formation of ulcers on their mucous membranes;
  • strong gas formation;
  • regular abdominal pain.

Often, only a complex of these symptoms indicates a disease such as cystic fibrosis. Individually, these manifestations indicate a disorder of a specific organ, and not a gene disease.

How to recognize another exacerbation

Since the disease occurs in remission, with subsequent outbreaks of exacerbation, parents should know the main symptoms that are worth paying attention to. This will help to provide timely assistance to the child, as well as avoid serious consequences.

When to contact a specialist:

  • sudden loss of appetite;
  • increased body temperature;
  • abdominal pain, bloating;
  • lethargy, apathy;
  • upset stool with the appearance of a foul odor;
  • persistent cough;
  • discharge of purulent sputum;
  • vomit.

If these signs appear, you should immediately call ambulance for hospitalization in a hospital. It is impossible to help a sick person at home. This condition requires medication therapy.

Diagnostics


When the first suspicion of cystic fibrosis appears, the child is examined in a hospital. As a rule, for a complete study, it is enough to take the patient’s biological fluids to conduct various tests.

What is included in the diagnosis of this disease:

  1. Sweat test. It is carried out three times; to make a diagnosis it must be positive all three times. The presence of chlorides more than 100 mmol/l definitely indicates the disease. The test should be performed on all infants who are bothered by a persistent cough.
  2. Test for chymotrypsin in feces.
  3. Examination of stool for the presence fatty acids. Cystic fibrosis makes itself felt by reducing pancreatic function by more than 75%.
  4. DNA diagnostics. It helps to make a correct diagnosis with an almost 100% guarantee; the error of the results ranges from 0.3-0.5%.

DNA diagnostics of amniotic fluid is possible even in the perinatal period. A false result in one direction or another is observed only in 5% of cases out of 100, which is quite reliable method. It is carried out in the second trimester of pregnancy, according to the testimony of a specialist.

Since this type of gene disorder is accompanied by many symptoms and concomitant diseases, diagnosis takes place in several stages. In order to make a correct diagnosis, 4 main criteria must be observed.

What a doctor needs to know to make a diagnosis:

  1. The presence of diseases in one or both parents.
  2. Are there any chronic diseases history of lungs.
  3. Are there any intestinal manifestations?
  4. Positive sweat test results.

It is on the basis of these data that a diagnosis of cystic fibrosis is made. As a rule, after genetic research, it makes no sense to carry out differential diagnosis.

Treatment

Treatment of cystic fibrosis in children should be comprehensive and lifelong. Only in this case can you help the baby, significantly alleviate his condition, avoiding serious problems with health.

The disease requires regular use of medications prescribed by the doctor, as well as breathing exercises and following a specific diet.

Exacerbation of cystic fibrosis requires hospitalization and treatment in a hospital during periods of remission preventive therapy carried out at home, but also under the supervision of a doctor.

Medicines


To assign medicines, preliminary in-depth diagnostics are carried out. It allows you to identify dysfunction of a particular organ and correct its functioning in a timely manner with the help of medications.

The doctor recommends the following examinations:

  • assessment of the child’s anthropometric data;
  • function study external respiration(FVD);
  • general analysis of blood, urine and feces, as well as sputum;
  • antibiotic sensitivity test.

Sometimes a specialist prescribes a chest examination using X-rays, ultrasound of the liver and heart. Based on the data obtained, the most suitable one is selected drug therapy, which eliminates symptoms and fights infection, if necessary.

A set of medications that are indicated for cystic fibrosis during exacerbations:

  1. Antibiotics. Prescribed if there is inflammation digestive tract or bronchopulmonary system.
  2. Mucolytic. Medications that thin sputum are indicated for oral or inhalation use.
  3. Corticosteroids. Allows you to quickly stop the inflammatory process.
  4. Hepatoprotectors. This group of medications is recommended for liver dysfunction.

On a regular basis, with short breaks, taking fortified complexes and enzymatic preparations (for example, Creon or Pancreatin) is indicated.

Respiratory cystic fibrosis in a child requires mandatory breathing exercises (kinesitherapy). Exercise helps speed up the release of mucus from the bronchi, which prevents inflammation..

The procedures must be carried out daily, morning and evening, throughout your life. During exercise you need to breathe in a certain way, which allows you to clear the lungs of accumulated mucus.

It should be remembered that gymnastics is developed for each patient individually. It is necessary to take into account the child’s age, his well-being and physical capabilities.

Carrying out regular kinesiotherapy significantly improves the patient’s standard of living, relieving him of problems with the respiratory system.

Nutrition correction

Nutrition plays an important role in the fight against genetic disease. Transferring your child to a specific menu will help cope with some of the problems that arise with cystic fibrosis.

Main goals of therapy:

  • maintaining body mass index within normal limits;
  • improving quality of life;
  • elimination of symptoms from the digestive tract.

The disease requires taking almost any product, but you must adhere to certain rules nutrition. They will help reduce the risk of complications.

What parents should know:

  • The baby's nutrition should be complete

It is necessary to ensure that the child eats regularly and eats at least 6 times a day. Breakfast, lunch or dinner should be hearty and contain the optimal amount of proteins, fats and carbohydrates.

  • Don't forget about snacks

Should be organized additional techniques food. Every day, the diet should include about 2 afternoon snacks, which consist of fruits or unsweetened pastries.

  • The benefits of salt
  • But fat and sugar are enemies!

No need to abuse fatty and excessive sweet food. This may contribute to the development of liver cirrhosis or diabetes.

Surgical intervention

Operations are carried out according to available indications. Surgical intervention is prescribed for diseases life-threatening child, such as:

  • liver failure;
  • serious lung damage;
  • intestinal obstruction, narrowing of the lumen or volvulus.

Such problems can be diagnosed in a hospital setting if the baby’s condition has deteriorated sharply.

Prevention and prognosis

It is certainly possible to predict future problems in a child only by looking at his medical history. The most dangerous occurrence of bronchopulmonary problems. Cystic fibrosis is a serious genetic disorder that cannot be fully cured.

The earlier the disease makes itself known, the worse the subsequent prognosis. A lot depends on the literacy of the leading specialist. Early detection problems will help to begin a timely fight against the disease.

It is worth noting that modern medicine has made a lot of progress over the past few decades in its ability to manage patients with this diagnosis. Mortality from mononucleosis has decreased from 80% to 30%.

If signs of cystic fibrosis are observed in newborns, they are referred to a geneticist for further examination. The only method of preventing this disease is to conduct a DNA test in the second trimester of pregnancy, when one or both parents are carriers of the mutated gene.

When a child is diagnosed with cystic fibrosis, parents should pay due attention to the prevention of all associated diseases. Only a comprehensive impact on the problem can help the baby in this difficult fight against genetic disorders.

Cystic fibrosis in children - disease of the glands that secrete secretions - autonomic-recessive, genetic, lethal. Cystic fibrosis affects only members of the white race. The disease is inherited from both parents who are carriers of the gene with a defect.

Cystic fibrosis affects the respiratory system, gastrointestinal tract, liver, salivary, sweat and sex glands. The viscous secretion provokes inflammatory processes in the affected organs.

Death is inevitable. But science has found ways to prolong the lives of patients. Today in Russia, more than 32–33% of patients with cystic fibrosis live to be 35–40 years old. At the end of the last century, the age limit for death was 14–15 years. In the UK, patients live for more than half a century, thanks to proper therapy and preventive measures.

The causes of the disease are the cystic fibrosis gene, which occurs in 5% of the white population of the planet (every twentieth). Parents who are both carriers of mutated genes should not think that their child will necessarily be born with a fatal disease. The probability of cystic fibrosis in the fetus is 25% in each pregnancy.

On the causes and development of the disease in no way do not influence environmental factors, age criteria and bad habits parents: smoking, alcoholism, drug addiction. Stress in pregnant women is also not a cause of cystic fibrosis in children. The disease can be equally likely to be contracted in newborn girls and boys.

Symptoms

The initial stage of cystic fibrosis is manifested by a violation of the processes of absorption of water, sodium and chlorine, the secretion of the glands becomes viscous and thick. Metabolism is disrupted, which leads to concomitant diseases: impaired liver and kidney function, heart failure,.

A child with cystic fibrosis lags behind his peers in growth. A fifth of sick newborns exhibit obstruction in the gastrointestinal tract and jaundice. In the first year, a sick child often has a dry cough.

Based on symptoms, the disease is divided into types:

  • pulmonary form;
  • intestinal form;
  • mixed form.

Pulmonary form

In the pulmonary form of cystic fibrosis, a constant dry cough is observed in children of the first year of life - this occurs for the following reasons: secretion in the form of viscous mucus accumulates in the lungs and bronchi, making breathing difficult, which is fraught with pneumonia and purulent inflammation. Viscous secretion is an ideal breeding ground for the development of bacteria in the lungs and respiratory tract.

Intestinal form

Meconium ileus is observed in newborns - due to blockage of the small intestine with meconium(original feces). Half of newborns with intestinal cystic fibrosis have jaundice. The reason is difficulty in the outflow of bile due to viscosity.

The most common symptoms are the mixed form of cystic fibrosis.

Due to disruption of the gastrointestinal tract the child has noticeable lags in physical indicators: height, weight, poor development of fatty tissue. Viscous enzymes gastric juice clog the passages. Food is poorly digested. The child develops foul-smelling, oily stools. Enzymes accumulate in the pancreas and break it down. The gland tissue is replaced by connective tissue (cystic fibrosis).

Parents should definitely consult a doctor if the following symptoms are observed:

  • in newborns, the rectum falls out during defecation;
  • the child has salty sweat;
  • constant dry cough, sputum accumulates in the lungs and bronchi, there are no symptoms of ARVI.

Diagnostics

Examination of a newborn in the first month of life - neonatal diagnosis. If cystic fibrosis is suspected, the baby's blood is taken for analysis to determine the level of immunoreactive trypsin. In sick children, the RTI is 10 times higher.

  • Sweat test: An analysis that determines the chloride content. The sweat test is done using pilocarpine injected into the skin using a weak current. A sweat test is performed on adults to find out whether their parents have the cystic fibrosis gene. Deviations: the sweat test is positive if the chloride concentration exceeds 60 mmol/l. The chloride rate is no more than 40 mmol/l.
  • Scatological research – stool analysis. The content of trypsin, lipase, and amylase is determined. Normal: more than 500 mcg/g.
  • Prenatal examination – prenatal diagnosis(screening). If parents are carriers of the cystic fibrosis gene, in the eighth week of pregnancy it is necessary to contact a genetic center and undergo DNA diagnostics and prenatal screening. Screening includes: ultrasound, biochemical blood test, consultation - this is the most effective method prevention of cystic fibrosis.

Screening

Prenatal screening is carried out in stages.

Screening at 11–13 weeks of pregnancy:

  • Fetal ultrasound;
  • donate blood for analysis and undergo a double test.

Screening at 16–18 weeks of pregnancy:

  • donate blood for analysis and undergo a triple test;
  • get advice from a geneticist.

Screening at the third stage carried out if the risk of having a sick child is 1:300. The expectant mother is referred for additional invasive diagnostics:

  • amniocentesis;
  • chorionic villus or placenta biopsy;
  • cordocentesis.

Treatment

Treatment for cystic fibrosis is lifelong. Due to the fact that the absorption of drugs from the gastrointestinal tract into the blood is difficult, the doctor prescribes drugs in increased dosages. Children under one year of age must be prescribed "Pancitrat" ​​or "". Capsules are taken with meals. Dissolving in the stomach, they influence the normalization of digestion, due to which children gain weight well and grow in the same way as their healthy peers.

Antibiotics

Antibiotics are prescribed at the first signs of ARVI. Antibacterial treatment– preventive therapy aimed at eliminating infection in the lungs. Before prescribing an antibiotic, it is necessary to take a sputum sample for analysis. Crops are carried out regularly. Sputum analysis must be done every three months.

Mucolytics

Mucolytics are prescribed to thin the mucus in the bronchi and lungs. The most effective treatment is with the drug “Pulmozim”. For children with cystic fibrosis, treatment with conventional mucolytics: Ambrosan, Fluimucil - does not help. The drugs are prescribed in the form of tablets, syrups or inhalations. Parents often use folk remedies: herbal infusions, massage, compress.

Hepatoprotectors

Hepatoprotectors dilute bile, which has a beneficial effect on liver function. To prevent the development of cholelithiasis and cirrhosis, treatment is prescribed with the drugs "Urosan" and "Ursofalk", which free the ducts from bile clots.

Vitamins

Vitamin therapy is regular and lifelong treatment. With cystic fibrosis, vitamins A, D, E, K are poorly absorbed by the body. A significant portion of microelements is lost in the stool. A chronically weakened body needs constant replenishment of vitamins, which must be taken with food while feeding the child.

Kinesitherapy

Kinesitherapy is a complex of breathing exercises that is necessary for sick children throughout their lives. Daily classes are held for two hours. If the child is weakened, the time is reduced to 20–30 minutes per day. Pediatricians at cystic fibrosis centers teach parents breathing exercises.

Prevention

The main prevention for children with cystic fibrosis is proper nutrition, a fatty diet and regular treatment, which protects against the occurrence of bacterial infection in the lungs. A child up to one year old drinks breast milk or special formulas selected by the pediatrician. A single dose is 150% of the usual volume of milk or formula consumed healthy child– this is due to poor absorption of food in the gastrointestinal tract. Proper nutrition for cystic fibrosis is a fat content of at least one third in a standard serving size.

In order for a child to eat everything that his peers should, it is necessary to regularly take medications such as pancreatic enzymes. To do this, the contents of the capsule are dissolved in milk or juice and given to the child to drink before eating.

When parents begin to introduce new foods to daily diet, it is necessary to focus on fatty foods. Children with cystic fibrosis should receive: full-fat yogurt and sour cream, cream. You should definitely add a couple of tablespoons of cream or butter to your porridge. Folk remedies such as honey and goat fat are effective.

Parents should remember that the child needs plenty of fluids. The norm, unlike healthy children, should be twice the standard volume of liquid. In the summer, sick children need to add additional salt to their food - at least 5 grams per day - this is due to the fact that the child loses a lot of mineral salts through sweat.

If your child develops fatty, foul-smelling stools, abdominal pain, or loses consciousness, you should immediately consult a doctor!

A child with cystic fibrosis should have his own room, which should be regularly ventilated. Parents should monitor medication intake. Preventive vaccinations are not canceled. The only restriction before vaccination: the period of exacerbation or bacterial infection in the lungs. In this case, the vaccination schedule is adjusted with the pediatrician. During the cold season, it is advisable to vaccinate your child against influenza to avoid ARVI, fraught with inflammation lungs and bronchitis.

Daily procedures

  • Mucolytic therapy: inhalation, taking medications, treatment with folk remedies.
  • Kinesitherapy. Breathing exercises for ventilation of the bronchi and lungs, massage. It is carried out a quarter of an hour after taking mucolytics. After this, the child should carefully cough up sputum.
  • In case of exacerbation, antibiotics are taken.