Can cystic fibrosis be cured? Cystic fibrosis

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

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

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

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

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

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

Symptoms

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

Although this disease causes a number of serious health problems, it mainly affects the lungs and digestive system. Therefore, a pulmonary and intestinal form of the disease is distinguished.

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

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

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

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

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

Diagnostics

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

Another factor is that the disease can vary from mild to severe in different children. The age at which symptoms appear also varies. Some have cystic fibrosis diagnosed in infancy, while others are diagnosed later in life. If the course of the disease is mild, the child may not have problems until adolescence or even adulthood.

By undergoing genetic tests during pregnancy, parents can now find out if their unborn children may have cystic fibrosis. But even when genetic tests confirm the presence of cystic fibrosis, there is still no way to predict in advance whether the symptoms of the disease in a particular child will be severe or unexpressed.

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

An infant is usually tested for cystic fibrosis if he is born with meconium ileus.

Sweat test

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

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

Determination of trypsinogen

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

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

These tests include:

Treatment of cystic fibrosis in children

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

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

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

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

Previously, cystic fibrosis was a fatal disease. Improved treatments developed over the past 20 years have increased the average lifespan of people with cystic fibrosis to 30 years.

Treatment of lung diseases

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

These medications include:

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

Treatment of digestive problems

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

A balanced, high-calorie diet that is low in fat and high in protein and pancreatic enzymes, which aid digestion, is often prescribed.

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

When you are told your baby has cystic fibrosis, you need to take extra steps to make sure your newborn gets the nutrients he needs and that his airways remain clear and healthy.

Feeding

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

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

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

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

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

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

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

Education and development

You can expect the child to develop as normal. When in kindergarten or school, he can receive an individual education plan in accordance with the Persons with Disabilities Education Act.

An individual plan ensures that the child can continue their education if they become ill or are admitted to the hospital, and also includes the necessary arrangements for attending an educational institution (for example, providing additional time for snacks).

Many children with cystic fibrosis continue to enjoy their childhood and grow up to lead fulfilling lives. When a child grows up, he may need many medical procedures and from time to time go to the hospital.

The child should be encouraged to be as active as possible. Your child may need extra help from their parents to adjust to school and everyday life. The transition from childhood to adulthood can also be difficult as the child must learn to manage cystic fibrosis independently.

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

Cystic fibrosis (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 in Caucasians, but cases have been reported in all races. Among the Caucasoid population, one case of the disease is recorded per 2000-3000 newborns, and among the black African and Japanese population, 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 each identified patient, there are 10 undiagnosed cases.

The disease usually appears in early childhood. Symptoms: salty taste of sweat, the appearance of mucous 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, in all organs that secrete mucus (bronchopulmonary system, pancreas, liver, sweat glands, salivary glands, intestinal glands, gonads), thick and viscous contents accumulate, the selection of which is difficult.

In cystic fibrosis, the pancreas can be affected, leading to the fact that the necessary amount of enzymes does not enter the digestive system and the 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 transplant operations have been carried out 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.

Other organs of the gastrointestinal tract also undergo pathological changes, but to a lesser extent. In some cases, damage to the liver, gallbladder, and salivary glands may occur.

Symptoms of cystic fibrosis

Symptoms of cystic fibrosis with damage to the bronchi and lungs

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

Mother's milk contains many useful nutrients, including the transfer of immune cells that protect the baby from the effects of pathogenic bacteria. The lack of women's milk immediately affects the immune status of the baby. In conjunction with the fact that stagnation of viscous sputum will certainly lead to infection of the mucous membrane of the trachea and bronchi, it is easy to guess why, starting from the age of six months, symptoms of damage to the bronchi and lungs begin to appear for the first time.

So, the first symptoms of bronchial damage are:

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

• The child is gaining little weight. Normally, per year, with a body weight of about 10.5 kg., Children with cystic fibrosis significantly lack the required kilograms.
• Lethargy, pallor and apathy are characteristic signs of developmental delay.

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

Other characteristic symptoms are:

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

Cardiovascular failure for cystic fibrosis

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

Among them, the main ones are:

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

Symptoms of cystic fibrosis with damage to the gastrointestinal tract

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

The main symptoms of chronic pancreatitis:

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

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

Disorders of the function of the genitourinary organs manifest themselves in delayed sexual development. Mostly in boys, in adolescence, complete sterility is noted. Girls also have a reduced chance of conceiving a child.

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

Diagnosis of cystic fibrosis

At the present stage of medical practice, it is not always possible to carry out expensive genetic research. Therefore, the main task of pediatricians is the early identification of symptoms that suggest the possible presence of a disease such as cystic fibrosis. It is early diagnosis that will make it possible to prevent complications of the disease, as well as take preventive measures aimed at improving the child’s living conditions.
The modern diagnosis of cystic fibrosis is based primarily on symptoms of a chronic inflammatory process in the bronchi and lungs. And in case of damage to the gastrointestinal tract - its corresponding symptoms.

Laboratory diagnostics

The diagnostic criterion that confirms the diagnosis is the increased content of chlorides in the patient’s sweat. The chlorine content in such patients exceeds 60 mmol/l. The test is repeated three times, at a certain time interval. A mandatory criterion is the presence of appropriate symptoms of damage to the bronchopulmonary system and gastrointestinal tract.

In newborns, the absence of primary stool (meconium), or prolonged diarrhea, is suspicious for cystic fibrosis.

Additional laboratory tests that reveal characteristic pathological changes in the functioning of organs and systems.

• A general blood test shows a decrease in the number of red blood cells and hemoglobin. This condition is called anemia. The norm of red blood cells is 3.5-5.5 million. The norm of hemoglobin is 120-150 g/l.
• Stool analysis is a coprogram. Damage to the gastrointestinal tract and pancreas is accompanied by an increased content of fat in the stool (steatorrhea) and undigested dietary fiber.
• Sputum analysis. Sputum is most often infected with some pathogenic microorganisms. In addition to them, a huge number of immune cells (neutrophils, macrophages, leukocytes) are found in the sputum. When examining sputum, the sensitivity of the bacteria contained in it to antibiotics is determined.

Anthropometric data

Chest X-ray

Ultrasonography

Treatment and prevention of cystic fibrosis

1. Periodically clear the bronchi of thick mucus.
2. Prevent pathogenic bacteria from multiplying and spreading through the bronchi.
3. Constantly maintain a high level of immunity by following a diet and eating foods rich in all beneficial nutrients.
4. Combating stress that arises as a result of a constant debilitating condition and while taking therapeutic and preventive procedures.

For acute and chronic inflammatory processes the following are used:

1. Broad-spectrum antibiotics. This means that targeted action is carried out against a wide range of microorganisms. Antibiotics are taken orally in the form of tablets, intramuscularly or intravenously, depending on the patient’s condition. The amount of medication taken and the dosage regimen are prescribed by the attending physician. The most common antibiotics used for cystic fibrosis include: clarithromycin, ceftriaxone, cefamandole.

1. Glucocorticosteroids. This is a group of drugs of hormonal origin. Glucocorticosteroids have proven themselves in acute inflammatory and infectious processes in the body. The most common and widely used glucocorticosteroid is prednisolone. The use of hormonal drugs is limited because they cause a lot of side effects, such as osteoporosis, the formation of stomach and duodenal ulcers, electrolyte disturbances in the body and many others. However, if there is no effect from drugs from other groups, glucocorticosteroids are used.

1. Oxygen therapy. It is carried out both in acute conditions and long-term throughout the child’s life. To prescribe oxygen therapy, blood oxygen saturation indicators are used. For this purpose, pulse oximetry is performed. A special clothespin is placed on the tip of the finger, which is connected to a device - a pulse oximeter. Within a minute, the data is read from one of the fingers and displayed on the monitor display. Pulse oximetry data is calculated as a percentage. Normal oxygen saturation in the blood is at least 96%. In cystic fibrosis, these figures are much underestimated, so there is a need for oxygen inhalation.

1. Physiotherapy together with inhalations. Warming up the chest area is used as physiotherapy. At the same time, the pulmonary blood vessels and bronchi expand. Air conduction and exchange of gases in the lungs improves. Together with the use of inhaled medications, the cleansing of the lung tissue and bronchi from the viscous mucus that has stagnated in them is enhanced.

• 5% solution of acetylcysteine ​​- breaks down strong bonds of mucus and purulent sputum, thereby facilitating the rapid separation of secretions.
• Saline sodium chloride solution (0.9%) also helps thin thick mucus.
• Sodium cromoglycate. The drug, together with inhaled glucocorticoids (fluticasone, beclomethasone), reduces the strength of the inflammatory reaction in the bronchi, and also has anti-allergenic activity, dilates the airways.

1. Correction of digestive disorders. It is carried out with the aim of improving the digestibility of the food eaten, through a balanced diet with the addition of high-calorie foods (sour cream, cheese, meat products, eggs) to the diet. To improve the processing and absorption of food taken, such patients are given additional enzyme preparations (Creon, Panzinorm, Festal and others).
2. For children under one year old who are bottle-fed, special nutritional supplements have been developed such as: “Dietta Plus”, “Dietta Extra” - made in Finland, “Portagen” - made in the USA, and “Humana Heilnahrung” - made in Germany.
3. In case of liver dysfunction, medications are taken that improve its metabolism and protect against the destructive effects of toxins and other harmful substances of impaired metabolism. These drugs include: heptral (ademetionine), Essentiale, phosphogliv. For pathological changes in the gallbladder and impaired bile outflow, ursodeoxycholic acid is prescribed.
4. Treatment of chronic foci of infection is mandatory. Children, for preventive purposes, are examined by otolaryngologists for the possible presence of rhinitis, sinusitis, tonsillitis, adenoids, and other infectious and inflammatory diseases of the upper respiratory tract.
5. The most important preventive measures include prenatal diagnosis of pregnant women and the fetus for the presence of defects in the cystic fibrosis gene. For this purpose, special DNA tests are carried out using polymerase chain reaction.

What is the prognosis for cystic fibrosis?

Cystic fibrosis is characterized by the production of thick and viscous mucus in all glands of the body, which clogs the excretory ducts of the glands and accumulates in the affected organs, leading to disruption of their function.

• Pulmonary system. Viscous mucus clogs the lumen of the bronchi, preventing normal gas exchange. The protective function of mucus is disrupted, which is to neutralize and remove dust particles and pathogenic microorganisms that penetrate the lungs from the environment. This leads to the development of infectious complications - pneumonia ( inflammation of the lungs), bronchitis ( inflammation of the bronchi), bronchiectasis ( pathological dilatation of the bronchi, accompanied by destruction of normal lung tissue) and chronic respiratory failure. At the final stage of the disease, the number of functional alveoli decreases ( anatomical formations that directly ensure the exchange of gases between blood and air) and increases blood pressure in the pulmonary vessels ( pulmonary hypertension develops).
• Pancreas. Normally, digestive enzymes are formed in it. After being released into the intestines, they are activated and participate in food processing. With cystic fibrosis, a viscous secretion gets stuck in the ducts of the gland, as a result of which enzyme activation occurs in the organ itself. As a result of destruction of the pancreas, cysts are formed ( cavities filled with dead organ tissue). The inflammatory process characteristic of this condition leads to the proliferation of connective tissue ( cicatricial) tissue that replaces normal gland cells. Ultimately, there is a deficiency of not only the enzymatic, but also the hormonal function of the organ ( Normally, the pancreas produces insulin, glucagon and other hormones).
• Liver. Stagnation of bile and the development of inflammatory processes lead to the proliferation of connective tissue in the liver. Hepatocytes ( normal liver cells) are destroyed, resulting in a decrease in the functional activity of the organ. At the final stage, liver cirrhosis develops, which is often the cause of death in patients.
• Intestines. Normally, the intestinal glands secrete large amounts of mucus. With cystic fibrosis, the excretory ducts of these glands become blocked, which leads to damage to the intestinal mucosa and impaired absorption of foods. In addition, the accumulation of thick mucus can impair the passage of stool through the intestines, which can result in intestinal obstruction.
• Heart. In cystic fibrosis, the heart is affected secondarily due to lung pathology. Due to the increase in pressure in the pulmonary vessels, the load on the heart muscle increases significantly, which needs to contract with greater force. Compensatory reactions ( increase in heart muscle size) become ineffective over time, which can result in heart failure, characterized by the inability of the heart to pump blood throughout the body.
• Reproductive system. Most men with cystic fibrosis are infertile. This is due to either a congenital absence or blockage of the spermatic cord by mucus ( containing the vessels and nerves of the testicle, as well as the vas deferens). Women experience increased viscosity of the mucus secreted by the glands of the cervix. This makes it difficult for sperm to pass through ( male reproductive cells) through the cervical canal, making it more difficult for such women to become pregnant.

What can be the complications of cystic fibrosis?

Cystic fibrosis is characterized by a disruption of the process of mucus formation in all glands of the body. The resulting mucus contains little water, is too viscous and thick and cannot be released normally. As a result, mucus plugs are formed that clog the lumen of the excretory ducts of the glands ( mucus accumulates in the gland tissue and damages it). Violation of mucus secretion leads to damage to the entire organ in which the mucus-producing glands are located, which determines the clinical course of the disease.

Cystic fibrosis affects:

• Pulmonary system. Viscous mucus clogs the lumens of the bronchi, disrupting the breathing process and reducing the protective properties of the lungs.
• The cardiovascular system. Impaired cardiac function is caused by organic damage to the lungs.
• Digestive system. The secretion of digestive enzymes from the pancreas is disrupted, and damage to the intestines and liver occurs.
• Reproductive system. Women with cystic fibrosis have increased viscosity of cervical mucus, which interferes with sperm penetration ( male reproductive cells) into the uterine cavity and interferes with the fertilization process. Most sick men are characterized by azoospermia ( absence of sperm in the ejaculate).

• Pneumonia ( pneumonia). Stagnation of mucus in the bronchial tree creates favorable conditions for the growth and reproduction of pathogenic microorganisms ( Pseudomonas aeruginosa, pneumococci and others). The progression of the inflammatory process is accompanied by impaired gas exchange and the migration of a large number of protective cells ( leukocytes) into the lung tissue, which without appropriate treatment can lead to irreversible changes in the lungs.
• Bronchitis. This term refers to inflammation of the walls of the bronchi. Bronchitis is usually bacterial in nature, characterized by a long, chronic course and resistance to treatment. As a result of the development of the inflammatory process, the bronchial mucosa is destroyed, which also contributes to the development of infectious complications and further aggravates the course of the disease.
• Bronchiectasis. Bronchiectasis is the pathological expansion of small and medium bronchi that occurs as a result of damage to their walls. In cystic fibrosis, this process is also facilitated by blockage of the bronchi with mucus. Mucus accumulates in the formed cavities ( which also contributes to the development of infection) and is released during coughing in large quantities, sometimes streaked with blood. At the final stage, changes in the bronchi become irreversible, as a result of which external breathing may be impaired and shortness of breath appears ( feeling of lack of air), pneumonia often occurs.
• Atelectasis. This term refers to the collapse of one or more lobes of the lung. Under normal conditions, even with the deepest exhalation in the alveoli ( special anatomical structures in which gas exchange occurs) there is always a small amount of air remaining, which prevents them from falling and sticking together. When the lumen of the bronchus is blocked by a mucus plug, the air located in the alveoli beyond the site of blockage gradually resolves, causing the alveoli to collapse.
• Pneumothorax. Pneumothorax is characterized by the penetration of air into the pleural cavity as a result of a violation of its integrity. The pleural cavity is a sealed space formed by two sheets of the serous membrane of the lungs - the inner one, adjacent directly to the lung tissue, and the outer one, attached to the inner surface of the chest. During inhalation, the chest expands and negative pressure is created in the pleural cavity, as a result of which air from the atmosphere passes into the lungs. The cause of pneumothorax in cystic fibrosis can be rupture of bronchiectasis, damage to the pleura by a putrefactive infectious process, and so on. The air accumulating in the pleural cavity compresses the affected lung from the outside, as a result of which it can be completely switched off from the act of breathing. This condition is often life-threatening for the patient and requires urgent medical intervention.
• Pneumosclerosis. This term refers to the proliferation of fibrous ( cicatricial) tissue in the lungs. The reason for this is usually frequent pneumonia and bronchitis. The growing fibrous tissue displaces the functional tissue of the lungs, which is characterized by a gradual deterioration in the gas exchange process, an increase in shortness of breath and the development of respiratory failure.
• Respiratory failure. It is the final manifestation of various pathological processes and is characterized by the inability of the lungs to provide an adequate supply of oxygen to the blood, as well as the removal of carbon dioxide ( byproduct of cellular respiration) from the body. Typically, this complication develops with improper or inconsistent treatment of cystic fibrosis and is characterized by an extremely unfavorable prognosis - more than half of patients with severe forms of respiratory failure die within the first year after diagnosis.

• "Pulmonary" heart. This term refers to a pathological change in the right side of the heart, which normally pumps blood from the veins of the body to the lungs. Changes in the vessels of the lungs are caused by impaired oxygen delivery to their walls, which is associated with blockage of individual bronchi, atelectasis and inflammatory processes ( pneumonia, bronchitis). The result of this is fibrosis of the walls of blood vessels and thickening of their muscular membrane. The vessels become less elastic, as a result of which the heart needs to make more efforts to fill them with blood. At the initial stage, this leads to myocardial hypertrophy ( increase in heart muscle volume), however, with the progression of the disease, this compensatory reaction is ineffective and a cardiac reaction develops ( right ventricular) deficiency. Since the heart is unable to pump blood to the lungs, it accumulates in the veins, which leads to the development of edema ( as a result of an increase in venous blood pressure and the release of the liquid part of the blood from the vascular bed) and disruption of the general condition of the patient ( which is caused by a lack of oxygen in the body).
• Heart failure. An increase in the volume of the heart muscle significantly impairs its blood supply. This is also facilitated by impaired gas exchange, which develops with various complications of the respiratory system. The result of these processes is a change in the structure of the muscle cells of the heart, their thinning, and the growth of scar tissue in the heart muscle ( fibrosis). The final stage of these changes is the development of heart failure, which is a common cause of death in patients with cystic fibrosis.

• Destruction of the pancreas. Normally, pancreatic cells produce digestive enzymes that are released into the intestines. In cystic fibrosis, this process is disrupted due to blockage of the organ's excretory ducts, as a result of which enzymes accumulate in the gland, become activated and begin to destroy ( digest) gland from the inside. The result of this is necrosis ( organ cell death) and cyst formation ( cavities filled with necrotic masses). Such changes are usually detected immediately after birth or in the first months of life of a child with cystic fibrosis.
• Diabetes mellitus. Certain cells of the pancreas produce the hormone insulin, which ensures normal absorption of glucose by the body's cells. With necrosis and the formation of cysts, these cells are destroyed, resulting in a decrease in the amount of insulin produced and the development of diabetes mellitus.
• Intestinal obstruction. Impaired passage of feces through the intestines is caused by poor processing of food ( which is associated with insufficiency of digestive enzymes), as well as the secretion of thick and viscous mucus by the intestinal glands. This condition is especially dangerous in newborns and infants.
• Cirrhosis of the liver. Pathological changes in the liver are caused by stagnation of bile ( the duct that carries bile from the liver to the intestines passes through the pancreas), which leads to the development of the inflammatory process and the growth of connective tissue ( fibrosis). The final stage of the described changes is cirrhosis of the liver, which is characterized by irreversible replacement of liver cells with scar tissue and a violation of all functions of the organ.
• Delay in physical development. Without adequate treatment, children with cystic fibrosis are significantly delayed in physical development. This is due to insufficient oxygen in the blood, decreased absorption of nutrients in the intestines, frequent infectious diseases and impaired protective functions of the body ( due to liver damage).

Is there a prenatal diagnosis for cystic fibrosis?

Cystic fibrosis is a genetic disease that a child inherits from affected parents. This disease is transmitted according to an autosomal recessive trait, that is, for a child to be born sick, he must inherit defective genes from both parents. If such a possibility exists ( if both parents have cystic fibrosis, if the family has already had children with this disease, and so on), there is a need for prenatal diagnosis.

Prenatal diagnosis of cystic fibrosis includes:

• biochemical study of amniotic fluid.

The source of fetal DNA may be:

• Biopsy ( piece of fabric) chorion. The chorion is the fetal membrane that ensures the development of the embryo. Removing a small section of it causes virtually no harm to the fetus. This method is used in the early stages of pregnancy ( from 9 to 14 weeks).
• Amniotic fluid. The fluid surrounding the fetus during the entire period of intrauterine development contains a certain number of fetal cells. To collect amniotic fluid ( amniocentesis) resort to later stages of pregnancy ( from 16 to 21 weeks).
• Fetal blood. This method is used after 21 weeks of pregnancy. Under the control of an ultrasound machine, a special needle is inserted into the umbilical cord vessel, after which 3–5 ml of blood is drawn.

Is cystic fibrosis contagious?

This disease develops due to a defect in the gene encoding the synthesis of a special protein - cystic fibrosis transmembrane conductance regulator. This gene is located on the long arm of the seventh chromosome. There are about a thousand different variants of its mutation, which lead to one or another variant of the development of the disease, as well as to varying severity of its symptoms.

A defect in this protein reduces the permeability of special transmembrane cellular pumps for chlorine ions. Thus, chlorine ions are concentrated in the cell of the exocrine glands. Following the chloride ions, which carry a negative charge, sodium ions with a positive charge rush in to maintain a neutral charge inside the cell. Following sodium ions, water penetrates into the cell. Thus, water is concentrated inside the cells of the exocrine glands. The area around the cells becomes dehydrated, which leads to a thickening of the secretions of these glands.

As mentioned above, this disease is transmitted exclusively genetically. Transmission from one person to another is possible only vertically, that is, from parents to children. It is important to note the fact that not 100 percent of children develop cystic fibrosis if one of the parents was sick.

The transmission of this disease is autosomal recessive, that is, in order for there to be at least a minimal probability of having a sick child, both parents must be carriers of this defective gene. In this case the probability is 25%. The probability that the child will be a healthy carrier of the disease is 50%, and the probability that the child will be healthy and the disease gene will not be passed on to him is 25%.

It would be possible to calculate the probabilities of having sick children, healthy carriers, and simply healthy children in couples in which one or both partners have cystic fibrosis, but this is practically pointless. In this case, nature made sure that the disease did not spread. Theoretically, a woman with cystic fibrosis can become pregnant, just as a man with this disease can conceive, but the practical probability of this is negligible.

Is lung transplant effective for cystic fibrosis?

With cystic fibrosis, thick, viscous mucus forms in all glands of the body. The first and main manifestation of the disease is damage to the lungs, which is associated with the formation of mucus plugs in the bronchi, respiratory failure, and the development of infectious and degenerative changes in them. If left untreated, respiratory failure develops, which leads to damage to other organs and systems - the heart is affected, the central nervous system is disrupted due to lack of oxygen, and there is a delay in physical development. Fibrosis and sclerosis of the lungs ( that is, the replacement of lung tissue with scar tissue) is an irreversible process in which a lung transplant may be the only effective treatment.

Principle of the method
In cystic fibrosis, simultaneous bilateral damage to the lung tissue occurs, so it is recommended to transplant both lungs. In addition, when only one lung is transplanted, infectious processes from the second ( sick) of the lung will spread to the healthy one, which will lead to its damage and re-occurrence of respiratory failure.

The lungs are usually taken from a deceased donor. The donor lung is always “foreign” for the recipient’s body ( the one to whom it is transplanted), therefore, before the operation, as well as throughout the entire period of life after the transplant, the patient must take drugs that suppress the activity of the immune system ( otherwise there will be a transplant rejection reaction). In addition, a lung transplant will not cure cystic fibrosis, but will only eliminate its pulmonary manifestations, so treatment of the underlying disease will also have to be carried out for the rest of life.

Lung transplant surgery is performed under general anesthesia and lasts from 6 to 12 hours. During the operation, the patient is connected to a heart-lung machine, which oxygenates the blood, removes carbon dioxide and circulates blood throughout the body.

Lung transplantation can be complicated by:

• Death of the patient during surgery.
• Transplant rejection - this complication occurs quite often, despite careful selection of a donor, compatibility testing and immunosuppressant therapy ( drugs that suppress the activity of the immune system).
• Infectious diseases - they develop as a result of suppression of the activity of the immune system.
• Side effects of immunosuppressants - metabolic disorders in the body, damage to the genitourinary system, the development of malignant tumors, and so on.

• with cirrhosis of the liver;
• with irreversible damage to the pancreas;
• with heart failure;
• patients with viral hepatitis ( C or B);
• drug addicts and alcoholics;
• in the presence of malignant tumors;
• AIDS patients ( acquired immunodeficiency syndrome).

How is cystic fibrosis transmitted?

The human genetic apparatus is represented by 23 pairs of chromosomes. Each chromosome is a compactly packed DNA molecule ( deoxyribonucleic acid), containing a huge number of genes. The selective activation of certain genes in each individual cell determines its physical and chemical properties, which ultimately determines the function of tissues, organs and the whole organism.

During conception, 23 male and 23 female chromosomes merge, resulting in the formation of a full-fledged cell, which gives rise to the development of the embryo. Thus, when forming a set of genes, the child inherits genetic information from both parents.

Cystic fibrosis is characterized by a mutation in just one gene located on chromosome 7. As a result of this defect, the epithelial cells lining the excretory ducts of the glands begin to accumulate a large amount of chlorine, and after chlorine, sodium and water pass into them. Due to the lack of water, the resulting mucous secret becomes thick and viscous. It “gets stuck” in the lumen of the excretory ducts of the glands of various organs ( bronchi, pancreas and others), which determines the clinical manifestations of the disease.

Cystic fibrosis is inherited as an autosomal recessive trait. This means that a child will only be sick if he inherits mutant genes from both parents. If only 1 mutant gene is inherited, there will be no clinical manifestations of the disease, but the child will be an asymptomatic carrier of the disease, as a result of which the risk of giving birth to sick offspring will remain.

To identify a defective gene and assess the risk of having a sick child, a molecular genetic study of future parents is carried out.

High-risk groups include:

• Couples in which one or both spouses have cystic fibrosis.
• People whose parents or immediate relatives ( grandparents, siblings) suffered from cystic fibrosis.
• Married couples who have previously given birth to a child with cystic fibrosis.

Genetic testing of parents may reveal:

• That both parents are sick. In this case, the probability of having a sick child is 100%, since both the father and the mother have mutant genes on the 7th pair of chromosomes.
• That one of the parents is sick and the other is healthy. The child of such a couple will be an asymptomatic carrier of the cystic fibrosis gene, since it will inherit 1 defective gene from one parent and 1 normal gene from the other.
• That one of the parents is sick and the other is an asymptomatic carrier. In this case, the child will be either sick or an asymptomatic carrier of the disease.
• That both parents are asymptomatic carriers of the cystic fibrosis gene. The probability of having a sick child in this case is 25%, while the probability of having an asymptomatic carrier is 50%.

Is the treatment of cystic fibrosis effective with folk remedies?

Traditional medicine is a fairly powerful weapon in the fight against almost any disease, if you use its advice wisely. Cystic fibrosis can be treated only with drugs from a natural pharmacy only in the initial stage, when the manifestations of the disease are minimal. In more severe stages of the disease, the intervention of traditional medicine with synthetic and purified drugs, which have no analogues in nature, is necessary. Otherwise, the disease will get out of control and the patient may die.

In cystic fibrosis, the most widely used natural mucolytics are sputum thinners. They are used both internally and in the form of inhalations.

The group of natural mucolytics includes:

• thermopsis;
• thyme;
• liquorice root;
• marshmallow root and others.

The group of natural antispasmodics includes:

• belladonna;
• lovage;
• chamomile;
• calendula;
• mint;
• oregano and others.

The group of natural antiseptics includes:

• pine bark;
• carnation;
• cranberry;
• cowberry;
• thyme;
• eucalyptus;
• basil and others.

What is the classification of cystic fibrosis?

Depending on the predominant clinical manifestations, there are:

• pulmonary form;
• intestinal form;
• mixed form;
• erased forms;
• meconium ileus.

Intestinal form
As the first manifestation of cystic fibrosis, it occurs in 10% of patients. The first symptoms of the disease appear 6 months after birth, when the child switches to artificial feeding ( Nutrients and protective substances contained in breast milk temporarily stop the development of the disease). Damage to the pancreas leads to a lack of digestive enzymes, as a result of which food is not digested, and putrefactive processes predominate in the intestines. Impaired absorption of nutrients leads to hypovitaminosis, retarded physical development, dystrophic changes in various organs, and so on.

Mixed form
Occurs in more than 70% of cases. It is characterized by the simultaneous presence of symptoms of damage to the respiratory and digestive systems.

Erased forms
They arise as a result of various mutations of the gene responsible for the development of cystic fibrosis. The classic clinical picture of the disease is not observed in this case, but damage to one or more organs predominates.

Erased forms of cystic fibrosis can manifest themselves:

• Sinusitis – inflammation of the nasal sinuses, which develops as a result of a violation of the outflow of mucus from them, which creates favorable conditions for the proliferation of pathogenic microorganisms.
• Repeated bronchitis - also develop when the outflow of mucus is impaired, but the clinical manifestations are mild, the lung tissue is affected to a lesser extent and the disease progresses very slowly, which makes diagnosis difficult.
• Male infertility - develops as a result of underdevelopment of the spermatic cord or obstruction of the vas deferens.
• Female infertility - observed with increased viscosity of mucus in the cervical canal, resulting in sperm ( male reproductive cells) cannot penetrate the uterine cavity and fertilize the egg ( female reproductive cell).
• Liver cirrhosis – As an isolated form of cystic fibrosis, it is extremely rare, and therefore patients have been treated for a long time for viral hepatitis and other diseases that actually do not exist.

Without urgent treatment, intestinal rupture and peritonitis may develop ( inflammation of the peritoneum - the serous membrane covering the internal organs), which often ends in the death of the baby.

Does kinesitherapy help with cystic fibrosis?

Kinesitherapy includes:

• postural drainage;
• vibration massage;
• active breathing cycle;
• positive pressure during exhalation.

Vibration massage
The principle of the method is based on tapping on the patient’s chest ( by hand or using a special apparatus). The vibrations created promote the separation of mucus from the bronchi and coughing. Vibration massage should be performed 2 times a day. The tapping frequency should be 30 – 60 beats per minute. In just 1 session, it is recommended to carry out 3 – 5 cycles of 1 minute each, between each of which there should be a two-minute break.

Active breathing cycle
This exercise involves alternating different breathing techniques, which together promotes the release of mucus from the bronchi.

The active breathing cycle includes:

• Breath control. You need to breathe calmly, slowly, without straining your abdominal muscles. This exercise is used in between other types of breathing.
• Exercises to expand the chest. At this stage, you need to take the deepest and fastest breath possible, hold your breath for 2 - 3 seconds and only then exhale. This technique facilitates the passage of air into the bronchi blocked by mucus and leads to its separation and removal. This exercise should be performed 2–3 times, after which you proceed to forced exhalation.
• Forced exhalation. It is characterized by a sharp, full and rapid exhalation after a deep inhalation. This facilitates the passage of mucus into larger bronchi, from where it is more easily removed by coughing. After 2–3 forced exhalations, it is recommended to perform the “breathing control” technique for 1–2 minutes, after which you can repeat the entire complex.

Positive pressure during exhalation
This method ensures the maintenance of small bronchi in an open state during exhalation, which promotes the discharge of sputum and restoration of the lumen of the bronchi. For this purpose, special devices have been developed, which are breathing masks equipped with valves to increase pressure and a pressure gauge ( pressure measuring device). It is recommended to apply such masks 2-3 times a day for 10-20 minutes per session. It is not recommended to increase the pressure in the middle of expiration by more than 1 - 2 mm Hg, as this can lead to injury to the lungs ( especially in children).

What is the life expectancy of people with cystic fibrosis?

The main clinical forms of cystic fibrosis are:

• pulmonary;
• intestinal;
• mixed.

As such a patient grows older, he often suffers from pneumonia, which is characterized by an extremely severe course. This leads to the replacement of the bronchial mucosa and surrounding muscle tissue with non-functional connective tissue, which further narrows the bronchi and worsens the air circulation in them. After 5–10 years, most of the lung tissue turns into connective tissue. This process is called pneumofibrosis. In parallel, the circulation of blood through the lungs becomes more difficult, which forces the heart to push it more actively. As a result, the right parts of the heart hypertrophy ( increase in size) in order to maintain sufficient pumping function in the pulmonary circulation. However, there is a limit to everything, and the heart muscle can also increase only up to a certain limit. Beyond this limit, the compensatory abilities of the heart muscle dry out, which is manifested by heart failure. Developing heart failure against the background of existing pulmonary insufficiency progresses rapidly, which significantly worsens the patient's condition.

In accordance with the pathogenesis of the disease, several stages of cystic fibrosis have been developed. They are characterized by certain structural changes in the lungs and heart, which determine the duration of each specific stage in months or years.

The clinical stages of the pulmonary form of cystic fibrosis are:

• Stage of unstable functional changes ( lasts up to 10 years). It is characterized by periodic dry cough, shortness of breath during severe physical exertion, and wheezing in the lungs.
• Stage of chronic bronchitis ( from 2 to 15 years). It is characterized by a cough with sputum, shortness of breath during moderate physical exertion, and pale skin. Infectious complications often recur ( pneumonia, bronchitis and so on). This stage is also characterized by the appearance of the first signs of retardation in physical development.
• Stage of chronic bronchitis associated with complications ( from 3 to 5 years). It is characterized by shortness of breath at the slightest physical exertion, pallor or cyanosis of the skin and mucous membranes, and severe retardation in physical development. There are always infectious complications - pneumonia, lung abscess ( formation in the lung tissue of a cavity filled with pus) and so on.
• Stage of severe cardiopulmonary failure ( several months, less than six months). Shortness of breath also appears at rest, swelling of the legs and lower torso progresses. There is marked weakness, up to the patient’s inability to self-care.

In the unfavorable course of the pulmonary form of cystic fibrosis, the child is born immediately with the second or third stage of the disease, which leaves him, at best, several years of life. In this case, the child is forced to constantly stay in the hospital for supportive treatment.

Intestinal form of cystic fibrosis
This form is manifested by predominant damage to the exocrine glands of the gastrointestinal tract. We are talking about the salivary glands, exocrine ( exocrine) parts of the pancreas and intestinal glands.

The first sign of intestinal cystic fibrosis in a newborn may be meconium ileus. Meconium is a newborn's first stool, which contains mostly exfoliated intestinal cells and amniotic fluid. In other words, normally meconium is relatively soft and is passed without difficulty. In a healthy child, meconium passes on the first, less often on the second day of life. With cystic fibrosis, meconium does not pass for a longer time, and in severe cases it causes intestinal obstruction with all the ensuing complications.

The reason for the formation of meconium plug is the absence or severe deficiency of trypsin, the main enzyme of the pancreas. As a result of this, and also due to the formation of thick secretions from the intestinal glands, mucus accumulates at the ileocecal valve, the junction of the small intestine into the large intestine. As mucus accumulates, it obstructs the passage of food and gases into the large intestine, causing acute intestinal obstruction, which without immediate surgical treatment leads to the death of the child.

At an older age, the intestinal form of cystic fibrosis acquires a characteristic clinical picture. Due to the fact that the salivary glands secrete thick saliva, it is difficult to chew food and form a food lump. There are practically no stomach ulcers in such patients, since the thick mucus covering its wall protects it even more effectively than in healthy people. However, erosions and ulcers in the duodenum are common because the intestinal glands and pancreas do not secrete enough bicarbonates to neutralize the acidic gastric juice. As a result, it irritates the duodenal mucosa so strongly that it causes damage.

The secret of the pancreas is too thick and for this reason is released into the intestinal lumen slowly. This feature leads to two negative points. The first is that pancreatic enzymes are activated in its internal ducts and not in the intestine ( like a healthy person). As a result, these enzymes digest the pancreas itself from the inside, causing chronic recurrent pancreatitis, which deforms the ducts even more, increasing the likelihood of another relapse of pancreatitis.

The second negative point is both qualitative and quantitative insufficiency of pancreatic enzymes, leading to insufficient digestion of food. Undigested food is not able to be absorbed in the intestines and is excreted in the stool almost unchanged. The body suffers because it does not receive enough nutrients from birth. This leads to a lag in physical development, weakened immunity ( body's defense system) and other complications.

This clinical form of cystic fibrosis is most favorable for the patient if it occurs in isolation ( without pulmonary manifestations). Due to the fact that complications of the intestinal form of cystic fibrosis are less life-threatening and sudden death due to them is rare, the life expectancy of such patients may well reach 30 years or more.

Mixed form of cystic fibrosis
It is the most dangerous, because it combines the clinic of pulmonary and intestinal forms. Severe disorders of the respiratory and digestive systems do not allow the body to create a healthy reserve, at the same time, depleting it. The life expectancy of such patients with good care and properly selected treatment rarely reaches 20 years.

In conclusion, it should be noted that the duration and quality of life of a patient with cystic fibrosis largely depends on the discipline of the patient himself and the care of his relatives. Such patients require daily procedures and medications. The more carefully the patient and his family will monitor his state of health, the longer he will live.

Does cystic fibrosis affect pregnancy?

Under normal conditions, the glands of the cervical canal secrete mucus. It is quite thick and viscous, has a protective function and is usually impermeable to bacteria, viruses or other microorganisms, including spermatozoa ( male reproductive cells). In the middle of the menstrual cycle, under the influence of hormonal changes, cervical mucus liquefies, as a result of which spermatozoa can penetrate through it into the uterine cavity, reach the egg and fertilize it, that is, pregnancy will occur. With cystic fibrosis, mucus does not liquefy. In addition, its viscosity increases even more, which greatly complicates the process of fertilization.

Pregnancy with cystic fibrosis can cause:

• Diabetes mellitus. Pregnancy itself predisposes to the development of this disease, which is due to the restructuring of metabolism in the female body. Since one of the constant manifestations of cystic fibrosis is damage to the pancreas ( the cells of which normally secrete the hormone insulin, which is responsible for the use of glucose in the body), it becomes clear why diabetes mellitus is much more common in pregnant women with cystic fibrosis than in the rest of the population.
• Respiratory failure. The main manifestation of cystic fibrosis is damage to the lung tissue, which consists of blockage of the bronchi with viscous mucus and frequent infectious diseases. The result of long-term progressive pathological processes is pulmonary fibrosis ( that is, the replacement of normal tissue with scar, connective tissue), leading to a significant reduction in the respiratory surface of the lungs. Compression of the lungs by the growing fetus can aggravate the course of the disease, and in the presence of a widespread fibrotic process, lead to the development of respiratory failure.
• Heart failure. Heart damage in cystic fibrosis is caused by lung pathology. As a result of fibrosis of the lung tissue, the heart has to increase in size in order to push blood into the pulmonary vessels, where the pressure is increased. As the fetal weight increases, the load on the heart increases even more ( since it is forced to work “for two”), and during childbirth it increases several times, which can lead to acute heart failure and death of the mother and fetus. That is why women with cystic fibrosis are recommended to be regularly observed by a gynecologist throughout the entire period of pregnancy, and also to give preference to artificial delivery ( caesarean section).
• Fetal underdevelopment and miscarriage. Chronic respiratory and/or heart failure during pregnancy leads to insufficient oxygen supply to the fetus. In addition, impaired absorption of nutrients in the intestines of a sick mother also affects the nutrition of the growing embryo. The result of the described processes can be intrauterine fetal death and miscarriage, general underdevelopment of the fetus, developmental anomalies of various organs and systems, and so on.

Title Cystic fibrosis patients live longer, but many problems remain
_Author
_Keywords

According to the Cystic Fibrosis Foundation, the average life expectancy of patients with cystic fibrosis (pancreatic cystic fibrosis) has increased significantly and now averages 35 years. Currently, adults account for up to 40% of patients with cystic fibrosis. In recent years, life expectancy has increased by about 50%.

The main factors that improve life expectancy and quality of life are a more aggressive nutritional strategy, improved efficacy of antibiotics and mucolytics, and the development of Specialized Care Centers.
The average CF patient today can experience the joys of family life, go to college and make a career.
However, there are still problems that need to be solved: 1) bacteria that are difficult to treat. Approximately 80% of patients are colonized with the bmicroorganism Pseudomonas by age 18. Over time, this bacterium becomes increasingly resistant to antibiotics.
2) An important problem is lung disease. Young people have large reserves, but a quarter of patients have more than 40 percent less vital capacity than expected.
Cystic fibrosis not only destroys the lungs, but also clogs the pancreatic ducts with mucous plugs. As a result, pancreatic enzymes do not enter the digestive tract, and food cannot be absorbed. Pancreatic problems continue to shorten patients' lives. Between 20 and 25% of patients with cystic fibrosis develop diabetes. The average age of the "debut" of diabetes is from 18 to 24 years.
Fragility of bones in this disease is noted even in utero. Approximately 67% have bone thinning and osteoporosis. This is due to the fact that pancreatic insufficiency disrupts the processes of fat digestion, the absorption of fat-soluble vitamins A, E, K, and especially D, which is critical for bone strength. Regular exercise helps strengthen bones, but patients with cystic fibrosis cannot exercise due to respiratory failure.
Family matters
With the birth of offspring in men with cystic fibrosis, there are problems. More than 95% of men with cystic acidosis are sterile. In cystic fibrosis, a congenital absence of vas deferens can often be observed - abnormal development of the duct, which ensures the passage of sperm from the testicles.
Fertility in women is also reduced. They can have children, but in severe forms of cystic fibrosis, there are often problems with conception due to malnutrition. 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. For example, intracytoplasmic sperm injection (ICSI) can be used, in which sperm is injected directly into the cytoplasm of mature eggs. However, ICSI costs $10,000 per injection with no guarantee of success.
Psychological picture: the decision to start a family is hindered by the feeling of impending death. Even if they can have children, they won't always have time to "get them back on their feet."

Lung transplantation remains the treatment for despair. This treatment is recommended if lung function falls below 30%. However, only 60% of patients live more than 5 years after transplantation. According to many scientists, lung transplantation does not so much prolong life as improve its quality.

Cystic fibrosis (cystic fibrosis) is a hereditary disease common among the white race. In European countries, approximately four in ten thousand are at real risk of developing cystic fibrosis.

It is not transmitted by airborne droplets or any other way, it cannot be contracted like influenza or hepatitis, it is a congenital disease. Cystic fibrosis in children can occur if both parents are carriers of the altered gene; if only one such mutant gene is inherited, the child will also be a carrier, but he will not face the disease.

If back in 1969, patients with such a diagnosis lived only up to fourteen years, now cystic fibrosis can no longer be called a death sentence.

It’s easy to find out about this disease in detail; just type “Cystic Fibrosis Presentation” in the search program.

The presenters of Mayak radio, back in October of last year, tried to explain in the most accessible, although not at all correct, form what cystic fibrosis is. “Mayak”, represented by its management and presenters, later apologized; the program was closed under pressure from the indignant public. And it’s true, can any disease be a reason for jokes, especially one like cystic fibrosis, the treatment of which still does not make it possible to live more than 40 years?

What is the essence of the disease

How does cystic fibrosis occur? The reason is a gene mutation. There is a membrane protein in the human body, the main task of which is to transport chloride ions through cell membranes in the liver, in the gastrointestinal tract, and in the lungs. The changed gene is not able to correctly encode the membrane protein, its work is disrupted and, as a result, the mucus covering the inner surface of the organs becomes more viscous. The carrier of such an altered gene may be approximately one person out of forty, i.e. the phenomenon is quite common, one in 2500 babies born is diagnosed with cystic fibrosis. Internet forums on this topic are clear confirmation.

What is the danger

Cystic fibrosis in adults and children is undoubtedly a life-threatening disease. Only early diagnosis gives a chance to avoid death, because almost the entire body is at risk. A genetic defect leads to the fact that the endocrine glands cannot function normally, and the organs undergo secondary changes, this is the danger posed by cystic fibrosis. Wikipedia talks about severe dysfunction of the respiratory organs, digestive organs and gastrointestinal tract. Bacteria multiply intensively in viscous mucus, hence constant health problems. The blood supply and ventilation of the lungs are impaired, resulting in frequent pulmonary infections and asthma attacks.

The pancreas does not secrete enough enzymes, food is poorly broken down and poorly absorbed by the body. The functions of the liver and gallbladder are impaired, and stagnation of bile is dangerous for the development of cirrhosis and the formation of stones. There is a danger of developing diabetes.

Symptoms

Being hereditary, cystic fibrosis in children makes itself felt at a very early age and only progresses over time. Moreover, it should be noted that the occurrence of the disease does not depend on the age of the parents, nor on the environment, nor on bad habits. Stress and medications during pregnancy have no effect on whether children will develop cystic fibrosis; symptoms will only appear if both parents pass on the altered gene.

Changes in the pancreas, respiratory organs, and digestive organs can begin already during the period of intrauterine development, so cystic fibrosis in newborns can be determined by a number of signs.

This is jaundice, which develops from the very first days of life, due to the fact that the outflow of bile is difficult, and shortness of breath, and lack of appetite. Intestinal obstruction is one of the main indicators that suggests cystic fibrosis in newborns. Symptoms: the child suffers from vomiting and bloating. Restless at first, he becomes lethargic after a few days, his skin becomes dry and pale due to general intoxication of the body.

Cystic fibrosis of the lungs, or rather the bronchopulmonary form, affects the respiratory system. Symptoms are a constant cough, painful, with attacks. In the future - frequent bronchitis, prolonged pneumonia with a very high temperature.

Cystic fibrosis, intestinal form or cystic fibrosis of the pancreas, is a dysfunction of all endocrine glands, when the enzymes necessary for digesting food are not produced, nutrients are almost not broken down and are not absorbed, i.e. the body is actually starving. Symptoms: bloating and abdominal pain, lethargy, lack of vitamins, and a little later - malnutrition, lack of weight.

The most common form is the pulmonary intestinal form; in 80 cases this type of cystic fibrosis is detected. The symptoms in this case are mixed, but the symptom common to all forms is that the child’s skin tastes salty

Can it be cured?

If at least some of the above symptoms are present and there is a suspicion of cystic fibrosis, a sweat test is simply necessary. The level of chlorides is determined, usually elevated in patients. Only genetic analysis can definitively confirm the diagnosis.

Modern medicine is not yet able to completely cure cystic fibrosis. Help lies in minimizing the symptoms of the disease with drugs to dilute mucus and bile, giving the body the necessary enzymes that it cannot produce itself, vitamins and microelements, and protecting as much as possible from infections. These are pancreatic enzymes, hepatoprotectors, bronchodilators and antibiotics - vital for the diagnosis of cystic fibrosis. Articles about new opportunities to combat this disease give hope that research into the causes of its occurrence at the molecular level will help create an effective and safe medicine.

International symposiums and conferences that are held every year, as well as the unification of the efforts of physicians and scientists, undoubtedly bear fruit in solving the problems of cystic fibrosis. The news of recent years in this area allows us to note that the disease has ceased to be a sentence, patients have the opportunity to live not just longer, but to live fully, work and study just like healthy people.