“My son smiled and cooed to me”
Ulyana Dotsenko received a call from a doctor from the intensive care unit and said that her three-month-old son had died. The boy was sick with cystic fibrosis. “At first we spent two months in the Filatov hospital because he had intestinal obstruction. There he underwent surgery on his intestines and was saved. He had an ostomy for some time. Then bowel function improved. My son smiled and cooed to me. We were discharged on May 11, but he spent only two days at home and began to choke. The ambulance took him to the Morozov hospital,” says Ulyana.
The events of the next 30 days, big and small, are the story of a mother's powerlessness as she watches her child pass away.
“We arrived there at two o’clock, and we were assigned to the department closer to night. At night he began to choke again. He was taken to intensive care. In the intensive care unit they did something to him, then gave him back to me. As I was later told, he began to choke because of pneumonia and because people with his illness have very thick sputum,” the woman recalls.
The child was taken to intensive care four times. The fourth time the boy stayed there for a week, they were about to return him to the department again, but she got up heat. “I insisted that he stay in intensive care,” says Ulyana.
According to the mother, the boy was connected to a ventilator three times, last time- for a week. “As the resuscitation doctor told me, the child was tired of breathing, and so they connected him to a ventilator. From June 6 until the time of his death, he was connected,” she says.
Many resuscitators do not know about this
“Attacks of respiratory failure occur due to various reasons. Standard procedure in this case, connect the person to a ventilator. For patients with cystic fibrosis, a long stay on a ventilator means death. However a huge number resuscitators do not know this, because cystic fibrosis is rare disease“says Irina Dmitrieva, a member of the All-Russian Association for Patients with Cystic Fibrosis.
“In such patients, the lungs must work,” she explains. – It’s very important for them physical exercise, in order to keep the lungs in good shape all the time, so that their volume is always realized. And artificial ventilation practically stops them from working. An ordinary person will become short of breath after being disconnected from a ventilator. But a patient with cystic fibrosis does not. During the short time he is connected to the ventilator, his lungs go into Out of Service irrevocably."
“It was a tragic incident,” recalls Maya Sonina, president of the Oxygen Charitable Foundation for Cystic Fibrosis Patients. - It was an adult guy. He didn't want to complain about being given generic antibiotics. On these generics, his condition and prognosis worsened.
He was admitted to a regional clinic with severe respiratory failure. Mom called our foundation and asked: “Get us out of here.” Both the doctor in Moscow, Stanislav Aleksandrovich Krasovsky, and I talked with the family about the fact that we should not agree to mechanical ventilation. We were ready to transport him to Moscow, here he would be given non-invasive ventilation and put on the waiting list for a transplant. But the guy agreed to the ventilator because he was already tired of everything. And that’s it, he never returned.”
ReferenceVentilation of the lungs using a non-invasive ventilator does not require tracheal intubation and is carried out through a sealed face mask. This method supports spontaneous breathing patient.
According to Maya Sonina, such cases occur in many regions: Altai, Omsk, Kemerovo, Rostov-on-Don, Krasnodar, Stavropol, etc.
“When the question is death or mechanical ventilation, that’s a different matter.”
A hospital room. Archive photo: RIA News
“Adolescent and adult patients with cystic fibrosis should not be connected to artificial ventilation,” clarifies Stanislav Krasovsky, senior Researcher Laboratory of Cystic Fibrosis, Research Institute of Pulmonology, FMBA of the Russian Federation. – It is impossible to treat respiratory failure with the help of mechanical ventilation at that stage of the disease when the lungs completely lose function.
It has been shown all over the world, and our experience demonstrates, that being connected to a ventilator is almost equivalent to the end of life for the patient. This is due to many processes occurring in the body of patients with cystic fibrosis, in particular, with deep structural changes in the lungs, which are formed by a certain age.”
When a patient with cystic fibrosis is in the final stage of the disease and is waiting for a lung transplant, the only salvation for him is non-invasive ventilation, the doctor emphasized.
“Unfortunately, people who are not cystic fibrosis specialists know little about this. Little is known about this in the regions. And, unfortunately, mechanical ventilation is often used,” stated Stanislav Krasovsky.
“It’s another matter when some acute but potentially reversible process occurs,” he continued. – For example, pulmonary hemorrhage. Then the resuscitator, seeing that there are no other ways to save the patient, temporarily carries out artificial ventilation until the acute condition ceases.
When the question is death or mechanical ventilation, and a decision needs to be made within a few minutes, or even seconds, such a decision will be professional.”
“In the hospital, my daughter’s temperature always rose to 40.”
“The healthcare system does not classify cystic fibrosis as a separate case. Meanwhile, the management of this disease is associated with a very large number of features,” noted Irina Dmitrieva. One of the consequences is the illiterate behavior of resuscitators.
Another problem that poses a threat to the lives of patients with cystic fibrosis is outdated sanitary standards that do not take into account the specifics of their disease.
“I can say about my daughter,” says Irina Dmitrieva. “She and I, starting from the age of one and a half years, spent every year in hospitals receiving intravenous treatment. There was not a single case where she did not get sick there with a temperature of 40. Despite the fact that we were always in a separate room, she did not leave without a mask, we used a liter of soap during the two weeks of our stay and quartzed the room all the time. But due to the general ventilation in the infectious diseases departments and poor compliance with hygiene rules by the staff, this did not help.”
Ideally, patients with cystic fibrosis should be placed not just in individual rooms, but in Meltzer boxes with separate ventilation.
However, this is not provided for in SanPin. “Until the SanPins change, doctors will use them to cover up their insolvency and inability to provide the maximum safe treatment patients with cystic fibrosis,” says Irina Dmitrieva.
How dangerous are specific infections for such patients, with which they can cross-infect each other in hospitals? Scientific research. For example, the Burkholderia cenocepacia strain ST709 in cystic fibrosis reduces human life expectancy by 10 years.
The Ministry of Health is currently working on clinical guidelines in microbiology for cystic fibrosis. They have already been compiled, verified by experts, and have undergone public discussion. All that remains is to approve them, said a member of the All-Russian Association for Patients with Cystic Fibrosis.
“Nappies are changed only once a day”
We do not know exactly what happened to Ulyana Dotsenko’s three-month-old child and whether he could have been saved. The mother’s memory recorded moments that, from her point of view, indicate the “negligence” of the hospital staff. Perhaps if the child had lived, all these events would have seemed insignificant to her. But the death of the baby changed everything.
Ulyana was with her son in the intensive care unit every day from 12:00 to 21:00. “Once there was a situation when I came and saw that my child was lying without an oxygen mask, crying, twitching his arms and legs, and vomited himself nasogastric tube. When I ran out and began to be indignant, they told me: we were busy,” she recalls.
“The nurse kept leaving my baby in diapers stained with blood and formula. This is unacceptable for children with cystic fibrosis. They must be in sterile conditions. When I told the nurse about this, she replied: diapers are changed only once a day,” continues Ulyana.
Another employee did not wash cups after formula and forgot to administer medications as scheduled, she said. “Children with cystic fibrosis are always on enzyme therapy. And my child should always receive Creon, as the attending physician wrote. But in the intensive care unit they gave him Micrazim,” says the woman. And during the inhalation, the nurse did not ensure that the mask fit snugly to the face, and the child, due to his mobility, simply did not receive vital necessary drug, she thinks.
“On Wednesday, June 13, my child’s saturation began to drop,” recalls Ulyana. “I called the resuscitator on duty and said: do something.” He just looked at the monitor and said: well, we'll watch. And in the morning they called me on the phone and said that the child had died.”
Inspection underway
The Internet portal “Miloserdie.ru” contacted the Moscow Department of Health with a request to comment on the facts listed by Ulyana Dotsenko.
“The Moscow Department of Health initiated an internal inspection of this case. We will be able to report the results after the verification is completed,” says the response letter sent to the editor.
“It is important to control what is done to the child”
Maya Sonina, director of the Oxygen Foundation
According to Maya Sonina, in Russian medical practice there are examples when children with the same pathology as Ulyana Dotsenko’s son were successfully treated. And there are examples when everything ended just as tragically.
Just recently, the Oxygen Foundation raised funds for a boy and girl with cystic fibrosis from two different regions who also had intestinal obstruction. One child died, and the other was saved.
“Back in the 2000s, the life expectancy of children with cystic fibrosis was much lower,” notes Maya Sonina. “For the last five years, the mortality rate, at least for children under 18, has remained at 0.2%.”
For parents of a child with cystic fibrosis, it is important to constantly monitor what is being done to him, says Irina Dmitrieva. First, they need to know what medications he is receiving and in what dosages. For example, low-quality antibiotics often cause premature death in patients, she says. Secondly, regularly consulting with cystic fibrosis specialists is not necessary in Moscow. There are such specialists in other major cities: for example, in Tomsk, Novosibirsk.
“It is better to always be in contact with doctors from the Cystic Fibrosis Center, who can at least remotely give competent advice, if not to the mother, then to the doctor,” emphasized Irina Dmitrieva. – In my experience, the doctor at the hospital says that he knows everything. But I always dialed the number of our attending physician from the Cystic Fibrosis Center and gave the phone number to the doctor in the hospital: talk.”
Parents suffer in silence
In addition, Irina Dmitrieva advises that the child be given palliative status, if possible. In this case, he will be able to undergo regular courses of antibiotic treatment for legally at home without the risk of contracting an infection in the hospital.
“Many parents are afraid of the palliative status; they believe that a palliative patient is a death row inmate. But we need to approach this differently,” she notes. “This is a formal status that gives the mother the right to demand regional support for her sick child.”
And if a child suffered due to the incompetence of doctors, parents should not remain silent, says Irina Dmitrieva. As a rule, people who have lost children are not ready to begin proceedings. “At first they suffer very much, then the pain dulls, but returning to what happened means reopening the wound. However, if we keep silent about problems, we will not have a chance to solve them,” she says.
Cystic fibrosis – the most common genetic disease that occurs among residents of the European part of Russia and Europe. It affects the respiratory, digestive and all secretion organs. The lungs most often affected by cystic fibrosis.Cystic fibrosis is the name for a rare genetic disease, with which more than 100 thousand people live all over the world. In Russia, this disease remains little known. According to statistics, every 20th representative of the Caucasian race has the gene for cystic fibrosis. According to the Ministry of Health and Social Development, about 2,500 people live with this diagnosis in Russia. However, the real figure is 4 times higher.
What is cystic fibrosis?
Cystic fibrosis (cystic fibrosis) is a common hereditary disease. Due to a defect (mutation) in the CFTR gene, secretions in all organs are very viscous and thick, so their extraction is difficult. The disease affects the bronchopulmonary system, pancreas, liver, sweat glands, salivary glands, intestinal glands and gonads. In the lungs, due to the accumulating viscous sputum, already in the first months of the child’s life they develop inflammatory processes.
1. What symptoms do people with cystic fibrosis exhibit?
One of the first symptoms of the disease is severe, painful cough and shortness of breath. In the lungs, ventilation and blood supply are disrupted, and inflammatory processes develop due to the accumulation of viscous sputum. Patients often suffer from bronchitis and pneumonia, sometimes already from the first months of life.
Due to a lack of pancreatic enzymes, patients with cystic fibrosis have difficulty digesting food, so such children, despite an increased appetite, are behind in weight. They have copious, greasy, foul-smelling stools that are difficult to flush out of diapers or from the potty, and they experience rectal prolapse. Due to stagnation of bile, some children develop cirrhosis of the liver, stones may form in the gallbladder. Moms notice salty taste baby's skin, which is associated with increased loss of sodium and chlorine through sweat.
2. Which organs does the disease affect?t first of all?
Cystic fibrosis affects all endocrine glands. However, depending on the form of the disease, either the bronchopulmonary or the digestive system is primarily affected.
3. What forms can the disease take?
There are several forms of cystic fibrosis: pulmonary form, intestinal form, meconium ileus. But most often there is a mixed form of cystic fibrosis with simultaneous lesions gastrointestinal tract and respiratory organs.
4. What could be the consequences ifIs the disease not diagnosed in time and treatment not started?
Depending on the form of the disease, prolonged neglect can lead to different consequences. Thus, complications of the intestinal form of cystic fibrosis include metabolic disorders, intestinal obstruction, urolithiasis disease, diabetes and cirrhosis of the liver. While the respiratory form of the disease can result in chronic pneumonia. Subsequently, pneumosclerosis and bronchiectasis develop, symptoms of “pulmonary heart”, pulmonary and heart failure appear.
5. Does the disease affect mental development person?
Patients with cystic fibrosis are mentally fully functional. In addition, among them there are many truly gifted and intellectually developed children. They are especially good at activities that require peace and concentration - they study foreign languages, read and write a lot, are engaged in creativity, they make wonderful musicians and artists.
6. Can you get cystic fibrosis?
No, this disease is not contagious and is transmitted only at the genetic level. None natural disasters, illness of parents, their smoking or drinking alcoholic beverages, stressful situations don't matter.
7. Can the disease manifest itself only in mature age Or do the symptoms appear from birth?
Cystic fibrosis can occur for quite a long time and be asymptomatic - in 4% of cases it is diagnosed in adulthood. But most often the disease manifests itself in the first years of life. Before the advent of high-tech diagnostics and treatment, children with cystic fibrosis rarely lived beyond 8-9 years of age.
8. Can sick children play sports, or should they have a gentle regime?
It is not only possible to play sports, but even necessary - physical activity helps to evacuate phlegm more effectively and maintain good performance. Swimming, cycling, horse riding, and most importantly, the kind of sport that the child himself gravitates towards are especially useful. However, parents should be careful about traumatic sports.
9. Can cystic fibrosis be cured, or is this disease untreatable?
Today it is impossible to completely defeat this disease, but with constant adequate treatment, a person with such a diagnosis can live a long time. full life. Transplant operations for damaged organs are now being practiced.
10. How is the treatment carried out?
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 medications with every meal. Otherwise, the food simply will not be digested. Also important has food. Antibiotics are often necessary to control respiratory infections and are prescribed to relieve or prevent exacerbations. In case of liver damage, hepatoprotectors are needed - drugs that dilute bile and improve the function of liver cells. Many medications require inhalers to administer.
Kinesitherapy is vital - breathing exercises and special exercises aimed at removing phlegm. Classes should be daily and lifelong. Therefore, the child needs balls and other equipment for kinesitherapy.
11. Is it possible to be treated withat home, or is it necessary to undergo treatment on an outpatient basis?
Treatment for cystic fibrosis often requires hospitalization, but it can also be done at home, especially if the disease is severe. mild form. In this case, a huge responsibility in treating the child falls on the parents, but constant communication with the attending physician is necessary.
12. How much does it cost to treat the disease?
Currently, treatment for cystic fibrosis is very expensive - the cost of maintenance therapy for a patient ranges from $10,000 to $25,000 per year.
13. What exercises should people with cystic fibrosis do?
A sick child needs kinesitherapy every day - special complex exercises and breathing exercises aimed at removing phlegm. There is a passive technique that is used in newborns and children under 3 years of age and includes changes in the position of the child’s body, shaking, and manual vibration. Subsequently, the patient must be transferred to an active technique, when the child himself does the exercises. Before starting kinesitherapy, parents are required to consult a doctor.
14. ShouldIs there a doctor present during the exercises?
At the initial stage, the attending physician or kinesiotherapist must be present at each massage session; later, parents can learn therapeutic massage themselves.
15. Is it true that mIs ucoviscidosis the most common hereditary disease?
Cystic fibrosis is indeed one of the most common hereditary diseases in patients belonging to the Caucasian (Caucasian) population. Every 20th inhabitant of the planet is a carrier of a defective gene.
16. How often are children born with cystic fibrosis?
In Europe, one baby out of 2000-2500 newborns is sick with cystic fibrosis. In Russia, the average incidence of the disease is 1:10,000 newborns.
17. If youthere are parents gene mutation, what is the probability of having a child with cystic fibrosis?
If both parents are carriers of a mutated gene, but are not sick themselves, the probability of having a sick child is 25%.
18. Is it possiblediagnose this disease early stages pregnant woman?
Yes, at 10-12 weeks of pregnancy, fetal disease can be detected. But it is necessary to take into account that the diagnosis is carried out when pregnancy has already occurred, therefore, in the case of positive result parents need to decide whether to continue or terminate the pregnancy.
19. What is the mortality rate among children with cystic fibrosis?
Among patients with cystic fibrosis, the mortality rate is very high: 50-60% of children die before reaching adulthood.
20. Which one average duration life in patientscystic fibrosis?
Throughout the world, the level of treatment for cystic fibrosis is an indicator of the development of national medicine. In the USA and European countries The average lifespan of these patients increases every year. On this moment this is 35-40 years of life, and babies who are born now can count on an even longer life. In Russia, the average life expectancy of patients with cystic fibrosis is much lower - only 20-29 years.
21. Are there any funds that provide assistance to children and adults suffering from cystic fibrosis?
There are several foundations working with sick children: these are “Pomogi.Org”, the “Creation” foundation, the special “In the Name of Life” foundation, created by parents of children suffering from cystic fibrosis, and the “Oxygen” program charitable foundation"Warmth of Hearts"
22. What support is provided to patients in these funds?
– heavy congenital disease, manifested by tissue damage and disruption secretory activity exocrine glands, as well as functional disorders, first of all, from the respiratory and digestive systems. The pulmonary form of cystic fibrosis is distinguished separately. In addition to it, there are intestinal, mixed, atypical shape and meconic intestinal obstruction. Pulmonary cystic fibrosis manifests itself in childhood paroxysmal cough with thick sputum, obstructive syndrome, repeated prolonged bronchitis and pneumonia, progressive respiratory dysfunction leading to deformation chest and signs chronic hypoxia. The diagnosis is established according to anamnesis, chest radiography, bronchoscopy and bronchography, spirometry, and molecular genetic testing.
ICD-10
E84 Cystic fibrosis
General information
– a severe congenital disease manifested by tissue damage and disruption of the secretory activity of the exocrine glands, as well as functional disorders, primarily of the respiratory and digestive systems.
Changes in cystic fibrosis affect the pancreas, liver, sweat, salivary glands, intestines, and bronchopulmonary system. The disease is hereditary, with autosomal recessive inheritance (from both parents who are carriers of the mutant gene). Disturbances in organs with cystic fibrosis occur already in the intrauterine phase of development, and progressively increase with the patient’s age. The earlier cystic fibrosis manifests itself, the more severe the course of the disease, and the more serious its prognosis. Due to chronic course pathological process, patients with cystic fibrosis need permanent treatment and specialist supervision.
Causes and mechanism of development of cystic fibrosis
In the development of cystic fibrosis, there are three main factors: damage to the exocrine glands, changes in the connective tissue, water and electrolyte disturbances. The cause of cystic fibrosis is a gene mutation, which disrupts the structure and function of the CFTR protein (cystic fibrosis transmembrane regulator), which is involved in water-electrolyte metabolism epithelium lining the bronchopulmonary system, pancreas, liver, gastrointestinal tract, reproductive system organs.
With cystic fibrosis, the physicochemical properties of the secretion of the exocrine glands (mucus, tear fluid, sweat) change: it becomes thick, with an increased content of electrolytes and protein, and is practically not evacuated from excretory ducts. The retention of viscous secretions in the ducts causes their expansion and the formation of small cysts, most notably in the bronchopulmonary and digestive systems.
Electrolyte disturbances are associated with high concentrations of calcium, sodium and chlorine in secretions. Stagnation of mucus leads to atrophy (drying) of glandular tissue and progressive fibrosis (gradual replacement of glandular tissue - connective tissue), early appearance of sclerotic changes in organs. Development complicates the situation purulent inflammation in case of secondary infection.
Damage to the bronchopulmonary system in cystic fibrosis occurs due to difficulty in sputum discharge (viscous mucus, dysfunction ciliated epithelium), development of mucostasis (stagnation of mucus) and chronic inflammation. Impaired patency of small bronchi and bronchioles underlies pathological changes in the respiratory system in cystic fibrosis. Bronchial glands with mucous-purulent contents, increasing in size, protrude and block the lumen of the bronchi. Saccular, cylindrical and “teardrop-shaped” bronchiectasis are formed, emphysematous areas of the lung are formed, with complete obstruction of the bronchi with sputum - zones of atelectasis, sclerotic changes in lung tissue (diffuse pneumosclerosis).
For cystic fibrosis pathological changes in the bronchi and lungs are complicated by the attachment bacterial infection (Staphylococcus aureus, Pseudomonas aeruginosa), abscess formation (lung abscess), development destructive changes. This is due to disturbances in the local immune system (decreased levels of antibodies, interferon, phagocytic activity, changes in the functional state of the bronchial epithelium).
In addition to the bronchopulmonary system, cystic fibrosis causes damage to the stomach, intestines, pancreas, and liver.
Clinical forms of cystic fibrosis
Cystic fibrosis is characterized by a variety of manifestations, which depend on the severity of changes in certain organs (exocrine glands), the presence of complications, and the age of the patient. The following forms of cystic fibrosis occur:
- pulmonary (cystic fibrosis);
- intestinal;
- mixed (the respiratory organs and digestive tract are affected simultaneously);
- meconium ileus;
- atypical forms associated with isolated lesions of individual exocrine glands (cirrhotic, edematous-anemic), as well as erased forms.
The division of cystic fibrosis into forms is arbitrary, since with predominant damage to the respiratory tract, disorders of the digestive organs are also observed, and with intestinal form changes in the bronchopulmonary system develop.
The main risk factor in the development of cystic fibrosis is heredity (transmission of a defect in the CFTR protein - cystic fibrosis transmembrane regulator). The initial manifestations of cystic fibrosis are usually observed in the very early period of a child’s life: in 70% of cases, detection occurs in the first 2 years of life, at an older age it is much less common.
Pulmonary (respiratory) form of cystic fibrosis
The respiratory form of cystic fibrosis manifests itself in early age and is characterized by pallor skin, lethargy, weakness, low weight gain with normal appetite, frequent ARVI. Children have a constant paroxysmal, whooping cough with thick mucous-purulent sputum, repeated prolonged (always bilateral) pneumonia and bronchitis, with severe obstructive syndrome. Breathing is harsh, dry and moist rales are heard, and with bronchial obstruction - dry wheezing. There is a possibility of developing infection-related bronchial asthma.
Respiratory dysfunction can steadily progress, causing frequent exacerbations, an increase in hypoxia, symptoms of pulmonary (shortness of breath at rest, cyanosis) and heart failure (tachycardia, cor pulmonale, edema). There is a deformation of the chest (keeled, barrel-shaped or funnel-shaped), changes in the nails in the form of watch glasses and the terminal phalanges of the fingers in the shape of drumsticks. With a long course of cystic fibrosis in children, inflammation of the nasopharynx is detected: chronic sinusitis, tonsillitis, polyps and adenoids. In case of significant dysfunction external respiration there is a shift in acid-base balance towards acidosis.
If pulmonary symptoms are combined with extrapulmonary manifestations, then they talk about a mixed form of cystic fibrosis. It is characterized by a severe course, occurs more often than others, combines pulmonary and intestinal symptoms diseases. From the first days of life, severe repeated pneumonia and bronchitis of a protracted nature are observed, persistent cough, indigestion.
The criterion for the severity of cystic fibrosis is the nature and degree of damage to the respiratory tract. In connection with this criterion, cystic fibrosis has four stages of damage respiratory system:
- Stage I characterized by intermittent functional changes: dry cough without sputum, slight or moderate shortness of breath during exercise.
- Stage II is associated with the development of chronic bronchitis and is manifested by a cough with sputum production, moderate shortness of breath, aggravated by exertion, deformation of the phalanges of the fingers, moist rales heard against the background of hard breathing.
- Stage III is associated with the progression of lesions of the bronchopulmonary system and the development of complications (limited pneumosclerosis and diffuse pneumofibrosis, cysts, bronchiectasis, severe respiratory and heart failure of the right ventricular type (“cor pulmonale”).
- IV stage characterized by severe cardiopulmonary failure, leading to death.
Complications of cystic fibrosis
Diagnosis of cystic fibrosis
A timely diagnosis of cystic fibrosis is very important in terms of prognosis for the life of a sick child. The pulmonary form of cystic fibrosis is differentiated from obstructive bronchitis, whooping cough, chronic pneumonia of other origins, bronchial asthma; intestinal form - with impaired intestinal absorption that occurs with celiac disease, enteropathy, intestinal dysbiosis, disaccharidase deficiency.
Diagnosis of cystic fibrosis involves:
- Study of family and hereditary history, early signs diseases, clinical manifestations;
- General blood and urine analysis;
- Coprogram - examination of feces for the presence and content of fat, fiber, muscle fibers, starch (determines the degree of enzymatic disorders of the glands of the digestive tract);
- Microbiological examination of sputum;
- Bronchography (detects the presence of characteristic “drop-shaped” bronchiectasis, bronchial defects)
- Bronchoscopy (detects the presence of thick and viscous sputum in the form of threads in the bronchi);
- X-ray of the lungs (reveals infiltrative and sclerotic changes in the bronchi and lungs);
- Spirometry (determines functional state lungs by measuring the volume and speed of exhaled air);
- Sweat test - study of sweat electrolytes - the main and most informative analysis for cystic fibrosis (allows us to detect the high content of chlorine and sodium ions in the sweat of a patient with cystic fibrosis);
- Molecular genetic testing (testing blood or DNA samples for the presence of mutations in the cystic fibrosis gene);
- Prenatal diagnosis - examination of newborns for genetic and congenital diseases.
Treatment of cystic fibrosis
Since cystic fibrosis, as a hereditary disease, cannot be avoided, timely diagnosis and compensatory therapy are of paramount importance. The sooner it starts adequate treatment cystic fibrosis, the more chances a sick child has to survive.
Intensive therapy for cystic fibrosis is carried out for patients with respiratory failure of II-III degree, lung destruction, decompensation of the “pulmonary heart”, and hemoptysis. Surgical intervention shown when severe forms intestinal obstruction, suspected peritonitis, pulmonary hemorrhage.
Treatment of cystic fibrosis is mostly symptomatic, aimed at restoring the functions of the respiratory and gastrointestinal tract, and is carried out throughout the patient’s life. If the intestinal form of cystic fibrosis predominates, a diet high in proteins (meat, fish, cottage cheese, eggs) is prescribed, with a limitation of carbohydrates and fats (only easily digestible ones). Coarse fiber is excluded; in case of lactase deficiency, milk is excluded. It is always necessary to add salt to food, consume increased amounts of fluid (especially in the hot season), and take vitamins.
Replacement therapy for the intestinal form of cystic fibrosis includes taking drugs containing digestive enzymes: pancreatin, etc. (dosage depends on the severity of the lesion, is prescribed individually). The effectiveness of treatment is judged by the normalization of stool, the disappearance of pain, the absence of neutral fat in the stool, and the normalization of weight. To reduce the viscosity of digestive secretions and improve their outflow, acetylcysteine is prescribed.
Treatment of the pulmonary form of cystic fibrosis is aimed at reducing the thickness of sputum and restoring bronchial patency, eliminating the infectious and inflammatory process. Mucolytic agents (acetylcysteine) are prescribed in the form of aerosols or inhalations, sometimes inhalations with enzyme preparations(chymotrypsin, fibrinolysin) daily throughout life. In parallel with physical therapy, physical therapy, vibration chest massage, and positional (postural) drainage are used. WITH therapeutic purpose perform bronchoscopic sanitation bronchial tree using mucolytics (bronchoalveolar lavage).
In the presence of acute manifestations pneumonia, bronchitis are carried out antibacterial therapy. Metabolic drugs that improve myocardial nutrition are also used: cocarboxylase, potassium orotate, glucocorticoids, cardiac glycosides are used.
Patients with cystic fibrosis are subject to dispensary observation by a pulmonologist and a local therapist. Relatives or parents of the child are taught techniques vibration massage, rules of patient care. The issue of preventive vaccinations for children suffering from cystic fibrosis is decided individually.
Children with light forms cystic fibrosis get sanatorium treatment. It is better to exclude children with cystic fibrosis from staying in preschool institutions. The ability to attend school depends on the child’s condition, but he is given an additional day of rest during the school week, time for treatment and examination, and exemption from examination tests.
Forecast and prevention of cystic fibrosis
The prognosis for cystic fibrosis is extremely serious and is determined by the severity of the disease (especially pulmonary syndrome), time of appearance of the first symptoms, timeliness of diagnosis, adequacy of treatment. There is a large percentage deaths(especially in sick children 1 year of life). The sooner cystic fibrosis is diagnosed in a child and targeted therapy is started, the more likely it is favorable course. Behind last years The average life expectancy of patients suffering from cystic fibrosis has increased and in developed countries is 40 years.
Of great importance are the issues of family planning, medical and genetic counseling of couples who have cystic fibrosis, and medical examination of patients with this serious illness.
The site provides background information for informational purposes only. Diagnosis and treatment of diseases must be carried out under the supervision of a specialist. All drugs have contraindications. Consultation with a specialist is required!
What kind of disease is this? Why do some people get it and others don't? How modern medicine able to help patients with this disease and is it possible for a person with cystic fibrosis to survive?.site) will help you get from this article.
