Intestinal cystic fibrosis symptoms. intestinal cystic fibrosis

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Cystic fibrosis in the newborn was first described by Landsteiner in 1905. Detailed characteristics of the clinical status of children suffering from pancreatic lesions and having meconium ileus (meconium ileus) were given.

The name "cystic fibrosis" was given only in 1944 by Farber. Since then, it has taken root in the international classification of diseases and is still used today.

The prevalence of pathology in European countries among newborns is on average 0.05%. In Russia, it is lower - 0.01%. The maximum number of registered diseases is observed in Denmark and the UK. The frequency among boys and girls is the same.

The greatest life expectancy was achieved by doctors in Denmark. In this country, it is 40 years or more. In Russia, the average life expectancy is 25 years.

Cystic fibrosis is an inherited disease caused by a mutation that occurs exclusively in one gene. Pathology is transmitted by an autosomal recessive mechanism, i.e. does not appear in every carrier of the pathological gene.

At the same time, the risk of having a sick child is 25% in each pregnancy if someone has a mutation in this gene.

From a clinical point of view, it is customary to distinguish between carriers and sick people. The main manifestation of the disease is the defeat of the glands of external secretion and impaired respiratory function.

Cystic fibrosis is characterized by polyorganism (multiplicity of lesions), both mucus-forming glands and non-mucus-forming glands can be involved in the pathological process. However, the latter do not play a significant prognostic role. Their involvement is characterized by an increased release of chloride and sodium ions.

The disease is initially characterized by a severe course. Effective methods of treatment do not exist at the moment, which leads to a poor prognosis for life.

However, early detection of sick children, carried out in the maternity hospital from the first day of life, helps to start symptomatic and pathogenetic therapy in a timely manner. This markedly improves the quality and duration of life..

Infectious mononucleosis in children, symptoms, diagnosis and treatment of the disease:

Causes and mechanisms of development of cystic fibrosis

The cause of cystic fibrosis was finally established in 1979, when an abnormal gene was identified that was associated with the development of the disease. It is located on the 7th chromosome.

The gene is responsible for the formation of a protein located on the membrane of epithelial cells. The main function of this protein is to ensure the transmembrane transport of chloride ions, as well as the regulation of other ion fluxes.

The mechanism of development of cystic fibrosis is reduced to sequentially replacing each other links:

defective protein does not function as a chloride channel;
in epitheliocytes (epithelial cells) a large amount of chloride ions accumulate, leading to a change in the electric charge in the intracellular environment;
electrical inversion leads to an increased intake of sodium into the epitheliocyte;
sodium attracts water from the interstitial space;
the secret of the glands becomes more concentrated due to a sharp decrease in water in the pericellular environment;
the excretion of glandular secretion is disturbed and blockage of the excretory ducts develops.

This leads to various functional disorders of organs.

There is a complete blockage of the lumen of small bronchioles. These changes create a background for the development of chronic inflammation in the respiratory system, leading to the destruction of connective tissue structures that create the elastic frame of the bronchi.

As a result, bronchiectasis appears (saccular extensions of the bronchial tree, in which infection often develops). Against this background, the lungs cannot perform basic functions, and hypoxia develops.

The end result of cystic fibrosis of this form is the development of cardiac and pulmonary insufficiency, the correction of which depends on the prognosis for life.

Damage to the pancreas develops in the intrauterine period. With this form, the formation of pancreatic enzymes occurs normally, but they cannot enter the duodenum. This activates autolysis (self-digestion) of the pancreas with the formation of cysts and proliferation of connective tissue.

In 20% of newborns, the manifestation of cystic fibrosis is meconium ileus. This condition is characterized by the formation of viscous meconium with blockage of the final sections of the small intestine.

At the heart of this condition is a violation of ion transport (sodium, chlorine and water), leading to a thickening of the original feces.

Common causes of vomiting and fever without diarrhea in children, how to treat, how to solder and when a doctor is needed:

Forms of the disease

Clinical forms of cystic fibrosis cause some difficulties in diagnosis.

The 3 main ones are the most common:

pulmonary (15-20%);
intestinal (10%);
mixed - there is a combined lesion of the lungs and intestines (up to 70% of all diagnosed cases).

Symptoms of cystic fibrosis in adults may be mild. Therefore, an even erased form of the disease is isolated, which occurs under the "masks" of various pathologies.

The intestinal form first debuts in childhood, as a rule, after the transfer of the child to artificial feeding. After the cessation of the flow of mother's milk, there is a lack of children's pancreatic enzymes.

This leads to a number of clinical symptoms:

bloating due to the activation of putrefactive processes;
repetitive bowel movements. There is a large amount of fat in the light-colored stool, giving it a fetid odor (this symptom is called steatorrhea);
after the start of planting the child on the potty;
dry mouth due to increased viscosity of saliva;
difficulty chewing dry food (for the same reason) and the need for constant drinking while eating;
early development of malnutrition (growth retardation) and hypovitaminosis due to impaired absorption processes in the intestine.

Cystic fibrosis as a lung disease includes a number of clinical syndromes:

obstructive (impaired airway patency);
accession of a secondary infection;
bronchiectasis (local expansion of the bronchi);
emphysematous (increased airiness of the lungs);
pneumosclerotic (proliferation of connective tissue in the lungs);
cardiopulmonary failure.

As a rule, others notice the abnormal state of the child. Their attention is drawn to such signs as:

pallor of the skin, which has an earthy tint;
cyanosis of fingertips and nose;
shortness of breath observed even at rest;
barrel chest associated with emphysematous expansion of the lungs;
the terminal phalanges of the fingers take the form of "drum sticks" against the background of chronic hypoxia;
poor appetite and severe thinness.

The sweat of patients with cystic fibrosis from birth contains a high concentration of chlorine and sodium. These indicators are increased by 5 or more times.

Elevated ambient temperature provokes even more salt loss. Developing electrolyte and metabolic disorders (alkalinization of the blood) cause the frequent development of heat stroke.

Symptoms and manifestations in adults

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

The disease proceeds under the "mask" of other pathological processes, for which a thorough examination begins:

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

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

Symptoms and course of cystic fibrosis in infants

Symptoms of cystic fibrosis in children of the first month of life can be manifested by prolonged neonatal jaundice. Normally, neonatal jaundice should resolve within a month after birth, but in cystic fibrosis it persists for several months.

Its development is associated with thickening of bile. This condition is accompanied by activation of fibrogenesis in the liver. With a frequency of 5 to 10%, these children develop biliary cirrhosis, which has an extremely unfavorable course and requires liver transplantation.

Signs of meocnial ileus as a manifestation of cystic fibrosis can be detected even in the prenatal period - during the second or third ultrasound screening. However, the frequency of their detection is low - only 10%.

Usually, the first clinical signs of cystic fibrosis appear immediately after birth, steadily progressing during the first year of life. They are invested in the syndrome of intestinal obstruction. In sick children, there is no physiological stool.

By the 2nd day, the child appears restless, bloating, frequent regurgitation and vomiting, in which bile is present. Within 2 days, the condition progressively worsens:

The skin becomes dry and pale.
Anxiety turns into lethargy and adynamia.
Increased dehydration and intoxication.

Diagnostics and tests

Laboratory diagnosis of cystic fibrosis should be carried out in the presence of characteristic clinical and anamnestic signs.

These include:

burdened family history (especially an indication of the death of a child in the first year of life, a verified diagnosis of cystic fibrosis in relatives);
early onset of the disease in childhood;
steadily progressive course;
predominant damage to the bronchopulmonary and digestive systems (the defeat of the latter begins even in utero);
infertility or reduced fertility in adults.

Laboratory methods for diagnosing cystic fibrosis are:

1) Test for immunoreactive trypsin, conducted only for children of the first month of life. The diagnostic criterion is the excess of standard indicators by 5-10 times or more.

However, a false positive result can be obtained with hypoxia transferred during childbirth. This analysis for cystic fibrosis is carried out in the maternity hospital on the 4-5th day of life (blood for research is obtained from the heel).

2) "Sweat" test- the most common. It is based on the determination of the concentration of sodium and chlorine in sweat, which are above the norm in cystic fibrosis.

The material can be any cell of the human body, so the method can be used even in the prenatal period.

The material for the study is blood obtained from the umbilical cord (cordocentesis). This analysis recommends genetic testing for couples at risk.

Instrumental studies conducted with suspicion of cystic fibrosis are aimed at identifying indirect signs of this disease.

radiography of the lungs;
bronchography;
spirography;
ultrasound scan of the abdomen.

Treatment of cystic fibrosis is carried out comprehensively with the use of pharmacological and physiotherapeutic methods, while changing lifestyle.

Its main goals are:

Prevention of respiratory tract infections.
Providing adequate nutrition.

Mandatory therapeutic areas for cystic fibrosis are:

the use of enzyme pancreatic preparations that eliminate impaired absorption in the intestine;
mucolytics to thin viscous sputum and effectively cleanse the bronchial tree;
antibacterial therapy (preventive and therapeutic) with the predominant inhalation route of administration of drugs through a nebulizer;
taking anti-inflammatory drugs;
taking vitamins;
diet food;
Healing Fitness.

Children and adults suffering from cystic fibrosis, for therapeutic purposes, are recommended to engage in certain sports:

badminton;
tennis;
horse riding;
golf;
volleyball;
cycling;
yoga;
swimming;
skis.

The prohibited sports are:

boxing and other types of wrestling;
basketball;
skates;
motorcycle riding;
diving;
Weightlifting;
hockey;
football.

Diet food is based on certain principles that help normalize digestion and improve weight gain in a child:

a large amount of protein in the diet;
lack of fat;
the number of calories increases to 130-150% of the age norm;
daily addition of fat-soluble vitamins to food (double daily requirement is recommended).

Billiary cirrhosis of the liver, symptoms, diagnosis, treatment of the disease and its complications:

Complications of cystic fibrosis

Complications of cystic fibrosis are formed early, because. carrying out etiotropic treatment of this disease is impossible at this stage of development of medicine. Symptomatic therapy cannot affect the mechanisms of development of the pathological process.

Therefore, complications such as:

bronchiectasis syndrome;
heart failure (at first, the right ventricular type, and then the left ventricular type joins);
respiratory failure;
biliary cirrhosis;
prone to heat stroke;
intestinal perforation with the development of peritonitis;
malnutrition in childhood.

The prognosis for a sick person is primarily determined by the functional safety of the bronchopulmonary system.

Cystic fibrosis - microbial code 10

In the international classification of diseases of cystic fibrosis is:

ICD-10: Class IV

E00-E90 - Diseases of the endocrine system, eating disorders and metabolic disorders

E70-E90 - Metabolic disorders

E84 Cystic fibrosis (Included: Cystic fibrosis)
E84.0 Cystic fibrosis with pulmonary manifestations
E84.1 Cystic fibrosis with intestinal manifestations Meconium ileus (P75)
E84.8 Cystic fibrosis with other manifestations Cystic fibrosis with combined manifestations
E84.9 Cystic fibrosis, unspecified

Cystic fibrosis (CF) is a common hereditary disease, potentially lethal. It became possible to diagnose it only in the second half of the 20th century. Prior to this, most patients with cystic fibrosis died in infancy from concomitant diseases.

Cystic fibrosis (cystic fibrosis) is a systemic hereditary disease caused by a mutation of a gene that affects cellular salt metabolism. As a result, an increased amount of thick, viscous mucus is produced that clogs the ducts. With cystic fibrosis, all mucus-forming organs are affected - the lungs, bronchi, liver, intestinal glands, pancreas, sweat, sex and salivary glands.

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Classmates

Who has cystic fibrosis

Cystic fibrosis occurs throughout the world, mainly in representatives of the Caucasian race, but individual cases of the disease have been recorded among representatives of all races.

The frequency of diseases is the same for both sexes. The gene that causes the disease has a recessive inheritance pattern, so a sick child is born only when both mother and father are carriers of the mutated gene. The birth rate of a child with cystic fibrosis in this case is 25 % . Carriers of a genetic mutation (and their number exceeds 5% of the total population of the Earth) do not show any signs of the disease.

Now in Russia more than 1500 patients with cystic fibrosis have been recorded. The number of unrecorded cases exceeds 15 thousand people.

How the disease develops

In cystic fibrosis, the viscous mucus produced by the bronchi accumulates and clogs the small bronchi, leading to impaired ventilation and blood supply to the lungs. The resulting respiratory failure is the most common cause of death in cystic fibrosis.

Mucus accumulations are easily infected by pathogenic microbes, leading to severe, irreversible changes in the lungs and their destruction.

The affected pancreas (in 80% of cases) leads to disruption of the digestive tract due to a lack of digestive enzymes. As a result of blockage of the ducts, cysts form. Stagnation of bile leads to cirrhosis of the liver, gallstones. Diabetes mellitus often develops. Affected sweat glands remove an increased amount of salt from the body along with sweat.

Currently, 96% of cases of cystic fibrosis are diagnosed in children under two years of age. Others are diagnosed at an older age.

Cause of cystic fibrosis in children

The only cause of cystic fibrosis is a child receiving a mutated CFTR gene from both parents at the time of conception.

This gene is responsible for the production of a protein that regulates the transport of sodium and chloride ions across the cell membrane.

Main symptoms

Depending on the nature of the disease, signs of cystic fibrosis may appear both immediately after birth and at a later age. The most common symptoms:

The skin is slightly salty;
body weight - reduced, thinness below the norm, even with excellent appetite;
disrupted bowel function - chronic diarrhea (often fetid), high fat content in feces;
breathing - wheezing, whistling;
cough - paroxysmal, painful, with the separation of a large amount of sputum;
frequent pneumonia;
"drumsticks" - thickening of the fingertips, often with deformed nails;
polyps in the nose - as a result of the growth of the mucous membrane of the cavity and sinuses of the nose;
rectal prolapse - periodic prolapse of the rectum.

Types and forms of the disease

Depending on which organs are mainly affected, the forms of the disease are distinguished:

Pulmonary - about 20% of cases. Accompanied by severe bilateral pneumonia with abscesses, then pulmonary and heart failure develops;
intestinal - occurs in 5% of patients. Leads to the formation of intestinal ulcers, intestinal obstruction, diabetes mellitus, urolithiasis, enlargement and cirrhosis of the liver;
mixed - the most common pulmonary-intestinal form (about 80% of cases). Combines signs of pulmonary and intestinal forms.

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Diagnostic methods

To establish the diagnosis, a medical history, clinical examination and special laboratory tests are necessary:

Sweat test and DNA study can reliably differentiate cystic fibrosis from the following diseases:

whooping cough;
bronchiectasis;
diabetes insipidus;
glycogen disease;
hereditary ectodermal dysplasia.

Methods of treatment of cystic fibrosis

To date, cystic fibrosis is incurable. Treatment is now only symptomatic, aimed at improving the patient's well-being and mitigating clinical manifestations.

Treatment is carried out continuously, throughout life. Early diagnosis of the disease, immediately started treatment will greatly facilitate and prolong the life of the patient.

Diet

Patients with cystic fibrosis urgently need a properly selected diet:

Increased caloric content of food - should be 20 - 30% higher than the age norm (increase the amount of protein);
fat restriction;
salt is a must, especially in hot weather;
liquid - constantly, in sufficient quantity;
vitamin-containing foods are a must every day (fruits, vegetables, natural juices, butter).

Treatment with drugs

Mucolytics - thinning mucus and helping to remove it (Ambroxol, Pulmozyme, Acetylcysteine). Used mainly in the form of inhalation;
antibiotics - for infections of the respiratory system (Gentamicin, Tsiprobay, Tienam, Tobramycin, Tazicef). They are used in the form of injections, tablets, inhalations;
enzymes - to compensate for pancreatic insufficiency (Polyzyme, Pancitrate, Pancreatin, Creon, Meksaz);
vitamins - are prescribed constantly due to poor absorption and increased need, especially fat-soluble vitamins (solutions of vitamins A, D, E in a double dose);
hepatoprotectors - with liver damage (ursofalk, ursosan);
kinesitherapy - daily special exercises and breathing exercises;
oxygen concentrator - in case of serious exacerbations of the disease;
organ transplantation - to prolong life with severe damage to the lungs, liver, heart. Complicated and expensive operations that prolong life, but do not cure the disease.

Physiotherapy

Physiotherapy is aimed at improving the functioning of the bronchi, is carried out daily:

Postural drainage - active rhythmic tapping with a palm folded in a boat on the ribs in certain areas. Used at any age;
autogenic drainage - based on independent special breathing. Slow breath through the nose - holding the breath - the maximum possible active exhalation;
PEP mask - allows you to create different exhalation pressure when using special nozzles;
flutter is a simulator that allows you to create, along with exhalation resistance, also oscillations that pass to the bronchi and contribute to the separation of sputum.

Preventive actions

The genetic nature of the disease makes it difficult to prevent.

Primary

Mass dissemination of information about the disease;
DNA examination of couples about to have a baby for the presence of a mutated gene;
perinatal diagnosis - makes it possible to prevent the birth of a sick child.

Secondary

Monitoring the patient's condition is constant;
monthly medical examination;
ongoing treatment appropriate to the course of the disease

Forecast

At present, the prognosis is still unfavorable. Death is observed in more than half of the cases. Life expectancy with cystic fibrosis in Europe is about 40 years, in the USA and Canada - about 50, in Russia - less than 30.

Currently, there are no reliable methods of curing this disease; the life expectancy of patients on average is no more than 40 years.

People diagnosed with cystic fibrosis suffer only physically. Mentally, they are absolutely complete, among them there are many talented, intellectually developed, gifted people. Having lived to adulthood, they can create families, and even be parents of clinically healthy children - in the absence of a damaged gene in a spouse.

If you have cystic fibrosis, do not despair. Seek help from a pulmonologist and gastroenterologist. If necessary, a nutritionist, physiotherapist, endocrinologist, cardiologist, psychologist and other specialists are involved in the treatment.

Hereditary diseases are very difficult to diagnose. All about the symptoms and stages of development of a genetic disease - cystic fibrosis.

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Cystic fibrosis is also called cystic fibrosis. This is a progressive genetic disease. Because of it, an infection occurs in the lungs and in the gastrointestinal tract.

There is a restriction of the function of the respiratory and stomach organs. People with this disease have a faulty gene that causes a buildup of mucus in the respiratory system, pancreas, or other organs.

Causes and Origins of Cystic Fibrosis

The mucus that is in the lungs traps bacteria inside and interferes with normal breathing. Thus, in the body of a healthy person, an infection is constantly formed, which leads to damage to the lungs, respiratory failure may occur. If the mucus is located in the pancreas, then it does not allow the formation of digestive enzymes that break down food in the stomach. Therefore, there is no absorption of vital nutrients by the body.

The first symptoms of the disease were described in the forties of the XX century. From the name it follows that "mukas" is a Greek root that means "mucus", "viscous" is glue. If you put two particles together, then the disease can be translated literally as "mucus secretion." It is secreted outward by various secretions of the body. The substance has a high viscosity.

Physicians have determined that cystic fibrosis is genetic. The disease is inherited from parents. Cystic fibrosis is not contagious, even if a person has harmful working conditions and a difficult lifestyle, then it will not work. Doctors found that the disease is not related to the sex of a person. Cystic fibrosis can occur in both men and women.

The type of transmission of the disease is considered recessive, but not the main one. The disease is encrypted at the genetic level. If only one of the parents has unhealthy genes, then most likely the child will be healthy. According to statistics, a quarter of the heirs are healthy, and half contain the cystic fibrosis gene in their body, but it is located at the chromosomal level.

Approximately 6% of the adult population of the Earth in the body has the material of this gene. If a child comes from parents who have distorted chromosomal information, then only in a quarter of cases the disease is transmitted to the baby. This type of disease transmission is called recessive.

The disease is not related to a person's sex, because the material is not in the sex genes. Every year, an equal number of sick boys and girls is born. No additional factors affect the gender of a person. It doesn’t matter how the pregnancy went, how healthy the mother or father is, what living conditions they have. This disease is transmitted only genetically. In the nineties there were main signs of the disease:

Doctors have accurately established that the defective gene is located on chromosome 7.
Due to the mutation, a violation of the protein substance occurs, therefore, the viscosity of the secret occurs, its chemical and physical properties change.
It is not yet fully understood why a mutation appears and how it is fixed genetically.

Disease of the digestive and respiratory organs

Endocrine glands are organs that supply the blood with biologically functional elements called hormones. Thanks to them, physiological processes are regulated. Disease of the endocrine glands are symptoms of cystic fibrosis. Organs in the human body that are responsible for the production of communication, the following:

These organs include the salivary glands and the pancreas. They are responsible for the production of bronchial secretions. In adults, the symptoms of cystic fibrosis are the pathological density of the physiologically necessary mucous layer. Thick mucus forms in the lumen of the bronchial tree. Therefore, the respiratory organs are excluded from the life process. The body ceases to receive the necessary oxygen, therefore atelectasis of the lungs is formed.

Due to cystic fibrosis, a fatty and protein layer is formed and distorted in the liver, bile stagnation occurs, as a result, the patient suffers from cirrhosis of the liver. The disease cystic fibrosis has another name - it is cystic fibrosis.

If a newborn child has intestinal obstruction, then the intestines suffer first of all. This is due to swelling of the submucosal layer of the intestine. The disease is almost always accompanied by other disorders of the gastrointestinal tract.

Symptoms of cystic fibrosis

Symptoms of the disease are detected in early childhood. Diagnosis of cystic fibrosis will help identify solutions, conduct effective treatment. If symptoms are not detected early in life, they may occur later in life. How to tell if a person has cystic fibrosis:

Chronic forms

The disease has clinical types, depending on the course, intestinal, atypical, meconium ileus, bronchopulmonary, pulmonary forms are distinguished. The disease has a genetic form and is closely related to the daily physiological processes occurring in the body. Typically, the clinical manifestations of cystic fibrosis are detected in a newborn child. There are cases when the disease was detected during intrauterine development of the fetus. Meconium ileus is often diagnosed in newborns.

Meconium is called the original feces. These are the first bowel movements of a newborn baby. If the child is healthy, then the bowel movements are excreted on the first day. With the disease, fecal retention is associated with the absence of a pancreatic enzyme called trypsin. The intestine does not form this element, as a result, the feces stagnate. It occurs in the colon and caecum.

With the progression of the disease, symptoms are found:

The child first burps and then vomits.
The baby has a pronounced bloating.
The baby is restless, often and a lot of crying.

On examination, the doctor may notice an increased vascular pattern on the tummy, and when tapped, a tympanic echo is detected. The mood of the child often changes: at first he is restless, and then lethargic. He does not have the necessary physical activity. The skin is pale and dry. Due to the fact that the child does not release feces in time, poisoning of the body occurs with the products of internal decay. When listening to the heart, the following symptoms are revealed:

Peristaltic bowel movement is not audible.
Breathing in a newborn is rapid.
Sinus tachycardia of the heart is detected.

If a newborn is sick with cystic fibrosis, then he is diagnosed with swelling of the loops of the small intestine, and the intestinal section in the lower part of the tummy also drops sharply. Due to the fact that the child is too small, his condition is rapidly deteriorating. The baby may have a complication.

It occurs due to rupture of the intestinal walls. And also a complication occurs in the form of pneumonia, in newborns it happens to be protracted and in severe form.

Shortness of breath

If the patient has a pulmonary form of the course of the disease, then he has pale skin, low weight. But at the same time, the person has a good appetite. If a newborn has a disease, then already in the first days of life he develops a cough, the intensity of which is constantly increasing. Pertussis-like attacks begin, which are called reprise. How does lung damage happen?

Mucus is formed in the patient's lungs, which is an excellent environment for the development of microorganisms that can cause pneumonia. Sputum subsequently becomes purulent and mucous, streptococcus, pathogenic microorganisms and staphylococcus are released from it. Inflammation of the lungs occurs in a complex and severe form, usually due to cystic fibrosis provoked the following complications:

Pneumosclerosis.
Abscesses.
Heart failure.
Pneumothorax.
Pulmonary insufficiency.

When the doctor listens to the lungs, wet rales are differentiated. The sound above the lungs has a boxed "echo". The patient's skin is pale, while the skin is dry.

With a benign course of the disease, signs of the disease occur only in an adult. At this time, the body develops compensation mechanisms. Symptoms gradually increase, chronic pneumonia develops, and then pulmonary insufficiency is diagnosed. Bronchitis gradually appears with the transition to pneumosclerosis.

With cystic fibrosis, the upper respiratory tract does not remain without participation. In addition to the disease, adenoids, appendages in the sinuses and the growth of the nasal mucosa begin to form. A person may have chronic tonsillitis. The disease does not go unnoticed, the patient's appearance changes:

The upper and lower limbs are too thin.
Body weight is constantly decreasing, despite a good appetite.
Drum sticks form on the lower extremities of the fingers.
The chest takes on a barrel-shaped appearance.
At a calm state, a person has shortness of breath.
The skin may become bluish in color.
The skin is pale.

In case of illness, the study will reveal thick mucus in the lumen of the small bronchi. Next, doctors will conduct an X-ray examination, where a decrease in the branches of small bronchi is usually diagnosed.

Signs of an intestinal form

In a healthy person, digestion is normal due to the release of the secret components necessary for this process. In patients with cystic fibrosis, digestive insufficiency is detected. This is due to the minimum production of the necessary fluids.

Symptoms of the disease occur when the child stops using only breast milk, his diet becomes varied. In this case, the digestion of food becomes more difficult, the food does not move through the digestive tract. Further, active putrefactive processes occur.

Outwardly, the disease is manifested by bloating and frequent stools. At the same time, the child's appetite does not decrease, he consumes more food than a healthy baby. But weight gain does not occur, while muscle tone is reduced, the skin is inelastic and flabby. A person with cystic fibrosis secretes a minimal amount of saliva, so food is washed down with plenty of fluids. Dry food becomes very difficult to chew. The pancreas lacks the necessary secretion, so the child is often diagnosed with diabetes mellitus, stomach ulcers and digestive tract anomalies.

The substances necessary for life are not absorbed by the stomach, so the body feels a lack of vitamins. The patient may develop hypovitaminosis. In infants, due to a lack of proteins in the plasma, swelling is observed. The liver also suffers, a large accumulation of bile is found, which leads to the formation of cholestasis. Outwardly, this disease is characterized by an increase in the size of the liver, dryness of the skin, the skin acquires a yellowish tint.

Mixed type of disease

This form is ranked among the most complex types. Already from the first days, the newborn develops signs of intestinal and pulmonary form of cystic fibrosis:

Mixed forms of the disease are directly related to the age of the patient. From this disease have a more pronounced character and malignancy. The younger the child, the worse the prognosis for the relief of signs of the disease.

Diagnosis and history

If the patient has a decrease in weight, then the disease is characterized by hypertrophy. Usually there is a backlog of the patient in physical development. And also diseases of the bronchi, sinuses, lungs are noted, and respiratory failure is formed. A common symptom of cystic fibrosis is pancreatitis and dyspeptic complaints. To accurately identify the disease, laboratory and clinical studies are carried out. They include:

The first test that is done is the sweat test. It is taken three times, the collection of fluid is carried out after provocative electrophoresis. Coprological studies are done to establish chymotrypsin in the stool. If pancreatic insufficiency is detected, then the analysis will give a result of more than 25 mol per day. Finding chymotrypsin is determined using a variety of tests.

The most accurate method for determining the disease is DNA diagnostics. Now it is widely used by doctors, but this method has several significant drawbacks: In sparsely populated regions, the method is usually not available. DNA diagnostics are expensive. Doctors also use perinatal diagnostics. To reveal the anamnesis, amniotic fluid is taken. Analysis is possible after 20 weeks. The error of the result varies within no more than 4%.

Therapeutic measures

All actions for the treatment of the disease are symptomatic. Treatment of cystic fibrosis is aimed at improving the patient's condition. The main thing in therapy is the restoration of nutrients in the gastrointestinal tract. Patients have poor digestion, so their diet should be more fortified and saturated by 30% more than the usual diet of a healthy person.

Proper nutrition

The main diet is the consumption of the required amount of protein. The patient must necessarily include meat products, eggs, fish and cottage cheese in the diet. In this case, you need to reduce the consumption of fatty foods to a minimum. It is forbidden to eat beef and pork, because the meat has refractory fats. The lack of fatty acids is compensated by the use of polyunsaturated fatty compounds. To break down these elements, pancreatic juice and lipase are not needed. Usually it is in these substances that the patient's body is deficient.

Doctors recommend minimize lactose and carbohydrate intake. Analyzes establish what kind of lack of sucrose the patient has. Lactose is classified as milk sugar, which is found in dairy products. In the pancreatic juice of the patient, a deficiency of the enzyme is found, which is responsible for the breakdown of food. Therefore, dairy products will lead to poor digestion.

In the summer, sweating increases in a person, respectively, there is a deficiency of sodium chloride in the body. Its deficiency is compensated by adding the substance to food. A person with cystic fibrosis should have plenty of fluids in their daily diet, as well as foods that include vitamins of all groups and useful substances. It is necessary to use butter in the required amount. The menu should also include fruits and vegetables.

Due to disruptions in the digestive process, enzyme medications are prescribed, the basis of which is pancreatin. The dose of drugs is determined based on the amount of stool and the determination of neutral fat in the feces.

Treatment of pulmonary pathologies

To combat the disease, the patient is prescribed mucolytics. These are special elements that soften bronchial sputum. Treatment should be carried out throughout the life of the patient. It consists not only in the use of medicines, but also in carrying out physical procedures:

Bronchoscopy is a special event that allows you to effectively deal with cystic fibrosis. The bronchial tree is flushed with saline or mucolytics. If a patient has respiratory diseases, pneumonia or bronchial otitis media, then antibacterial medicines will be needed for treatment. The main symptom is indigestion. Therefore, antibiotics are administered orally by aerosol or injection.

Lung transplantation is considered the main therapeutic measure. This is a serious operation, the question of holding an event arises when the therapy has exhausted its possibilities. To improve the patient's quality of life, both lungs will need to be transplanted.

This procedure will help if other organs in the body are not affected by the disease. Otherwise, serious intervention will not bring the expected effect.

Forecast Definition

Cystic fibrosis is one of the most complex diseases. The symptoms and types of the disease vary greatly. Cystic fibrosis is affected by various factors, where age is the main one. The disease affects a person's life until his death. In the treatment of the disease, progress has been made, but the prognosis is still considered unfavorable. More than half of the cases of cystic fibrosis are fatal. And also life expectancy is short - from 20 to 40 years. In Western countries, with proper treatment, patients on average live up to 50 years.

Treatment of cystic fibrosis is a very difficult undertaking. The main task of doctors is to stop the development and progression of the disease. The treatment process is only symptomatic. Active prevention can prolong the life of the patient. To prevent cystic fibrosis from progressing, the following actions:

It is impossible for pathogenic bacteria to spread through the bronchi. Thick mucus is often found in them, so the bronchi must be cleared of harmful accumulation. Treatment should occur not only during attacks, but also in the passive course of the disease. In chronic and acute processes are used the following medicines:

Women who suffer from cystic fibrosis find it extremely difficult to get pregnant. During gestation, the fetus may experience a number of complications, this is a danger to the child and the mother herself. Now the disease of cystic fibrosis is not fully understood, but there are many methods of struggle that can prolong the life of patients with a complex diagnosis.

Cystic fibrosis is one of the most common genetic diseases in humans. With this disease, the glands of the respiratory system, the gastrointestinal tract and others, form too thick mucus.

Pulmonary disease over time can cause the lower right side of the heart (right ventricle) to collapse.

Complications in digestion

Cystic fibrosis makes patients more prone to diarrhea. Viscous secretions clog the pancreatic ducts, preventing the release of enzymes necessary for the digestion of fats and proteins. Secretions prevent the body from absorbing fat-soluble vitamins (A, D, E, K).

Cystic fibrosis affects the pancreas, and because this organ controls blood sugar levels, people with cystic fibrosis can develop diabetes. In addition, the bile duct can become clogged and inflamed, leading to liver problems such as cirrhosis.

Treatment and therapy of cystic fibrosis

In order to minimize the symptoms and complications of cystic fibrosis, several treatments are used, their main goals are:

infection prevention
reduction in the amount and liquefaction of the consistency of secretions from the lungs
improved breathing
calorie control and proper nutrition

To achieve these goals, cystic fibrosis therapy may include:

Antibiotics. The latest generation of drugs are great at fighting bacteria that cause lung infections in patients with cystic fibrosis. One of the biggest problems with the use of antibiotics is the emergence of drug-resistant bacteria. In addition, long-term use of antibiotics can cause fungal infections in the mouth, throat, and respiratory system.
Mucolytic drugs. The mucolytic drug makes the mucus thinner and therefore improves sputum separation.
Bronchodilators. The use of medications such as salbutamol can help keep the bronchi open, which encourages expectoration of mucus and secretions.
Bronchial drainage. In patients with cystic fibrosis, mucus must be manually removed from the lungs. Drainage is often done by beating the chest and back with the hands. Sometimes an electrical device is used for this. You can also wear an inflatable vest that emits high frequency vibrations. Most adults and children suffering from cystic fibrosis need to have a bronchial drain at least twice a day for 20 minutes to half an hour.
Enzyme oral therapy and proper nutrition. Cystic fibrosis can lead to malnutrition because the pancreatic enzymes needed for digestion do not reach the small intestine. So people with cystic fibrosis may need more calories than healthy people. A high-calorie diet, special water-soluble vitamins and pills containing pancreatic enzymes will help you not lose weight or even gain weight.
Lung transplant. A doctor may recommend a lung transplant if there are serious breathing problems, life-threatening pulmonary complications, or if the bacteria have developed resistance to the antibiotics used.
Analgesics. Ibuprofen may slow the destruction of the lungs in some children with cystic fibrosis.

Lifestyle for people with cystic fibrosis

If your child suffers from cystic fibrosis, one of the best things you can do is learn as much as you can about the disease. Diet, therapy and early detection of infections are very important.

As with adult patients, it is important to perform daily "percussive" procedures to remove mucus from the child's lungs. A doctor or pulmonologist can suggest the best way to perform this very important procedure.

Be aware of vaccinations. In addition to regular vaccines, also get pneumococcal and flu shots. Cystic fibrosis does not attack the immune system, but it does make children more susceptible and prone to complications.
Encourage your child to lead a normal life. Physical exercise is of paramount importance for people of any age suffering from cystic fibrosis. Regular exercise helps expel mucus from the airways and strengthens the heart and lungs.
Make sure your child is following healthy diet. Talk to your family doctor or dietitian about your child's dietary needs.
Use nutritional supplements. Give your child fat-soluble vitamin and pancreatic enzyme supplements.
See to it that the child drank a lot of liquid, - it will help thin the mucus. This is especially important during the summer season when children are more active and tend to lose a lot of fluids.
Do not smoke in the house and even in the car, and do not allow others to smoke in the presence of your child. Passive smoking is harmful to everyone, but people with cystic fibrosis are particularly affected.
Remember to always wash your hands. Teach all your family members to wash their hands before eating, after using the toilet, when they get home from work or school. Hand washing is the best way to prevent infection.

In cystic fibrosis, adding protein and calories to the diet is important. After medical advice, you can also take additional multivitamins containing vitamins A, D, E and K.

Enzymes and mineral salts

All patients with cystic fibrosis should take pancreatic enzymes. These enzymes help the body metabolize fats and proteins.

People who live in hot climates may need a little extra table salt.

Food habits

Eat when you have an appetite. This means that it is better to have several small meals throughout the day.
Always have a variety of nutritious snacks on hand. Try to eat something every hour.
Try to eat regularly even if it's just a few sips.
Add grated cheese in soups, sauces, pies, vegetables, boiled potatoes, rice, pasta or dumplings.
Use skim milk, partially skimmed, fortified cream or milk, for cooking or just drinking.
Add sugar to juices or hot chocolate. When you eat cereal, try adding raisins, dates, or nuts.

In contact with

Classmates

Who has cystic fibrosis

Cystic fibrosis occurs throughout the world, mainly in representatives of the Caucasian race, but individual cases of the disease have been recorded among representatives of all races.

Now in Russia more than 1500 patients with cystic fibrosis have been recorded. The number of unrecorded cases exceeds 15 thousand people.

How the disease develops

Mucus accumulations are easily infected by pathogenic microbes, leading to severe, irreversible changes in the lungs and their destruction.

Currently, 96% of cases of cystic fibrosis are diagnosed in children under two years of age. Others are diagnosed at an older age.

Cause of cystic fibrosis in children

The only cause of cystic fibrosis is a child receiving a mutated CFTR gene from both parents at the time of conception.

This gene is responsible for the production of a protein that regulates the transport of sodium and chloride ions across the cell membrane.

Main symptoms

Depending on the nature of the disease, signs of cystic fibrosis may appear both immediately after birth and at a later age. The most common symptoms:

The skin is slightly salty;
body weight - reduced, thinness below the norm, even with excellent appetite;
disrupted bowel function - chronic diarrhea (often fetid), high fat content in feces;
breathing - wheezing, whistling;
cough - paroxysmal, painful, with the separation of a large amount of sputum;
frequent pneumonia;
"drumsticks" - thickening of the fingertips, often with deformed nails;
polyps in the nose - as a result of the growth of the mucous membrane of the cavity and sinuses of the nose;
rectal prolapse - periodic prolapse of the rectum.

Types and forms of the disease

Depending on which organs are mainly affected, the forms of the disease are distinguished:

Pulmonary - about 20% of cases. Accompanied by severe bilateral pneumonia with abscesses, then pulmonary and heart failure develops;
intestinal - occurs in 5% of patients. Leads to the formation of intestinal ulcers, intestinal obstruction, diabetes mellitus, urolithiasis, enlargement and cirrhosis of the liver;
mixed - the most common pulmonary-intestinal form (about 80% of cases). Combines signs of pulmonary and intestinal forms.

Diagnostic methods

To establish the diagnosis, a medical history, clinical examination and special laboratory tests are necessary:

Sweat test and DNA study can reliably differentiate cystic fibrosis from the following diseases:

whooping cough;
bronchiectasis;
diabetes insipidus;
glycogen disease;
hereditary ectodermal dysplasia.

Methods of treatment of cystic fibrosis

To date, cystic fibrosis is incurable. Treatment is now only symptomatic, aimed at improving the patient's well-being and mitigating clinical manifestations.

Treatment is carried out continuously, throughout life. Early diagnosis of the disease, immediately started treatment will greatly facilitate and prolong the life of the patient.