Cystic fibrosis: what is this disease, symptoms, causes, treatment

Cystic fibrosis (also called cystic fibrosis) is a progressive genetic disease that cause persistent infections in the gastrointestinal tract and lungs, limiting the functions of the respiratory and gastrointestinal path.

In people with cystic fibrosis, the defective gene is characterized by a thick, sticky build-up of mucus in the airborne organ, pancreas and other organs.

In the lungs, mucus clogs the airways and traps bacteria, leading to infections, extensive lung damage, and ultimately respiratory failure.

V pancreas mucus prevents the secretion of digestive enzymes that allow the body to break down food and absorb vital nutrients.

The symptoms of cystic fibrosis were first described in the mid-forties of the last century. The name itself has an origin that reflects the main features. Mukos - from the Greek root, means mucus, viscus - glue, together - means that the mucous secretion, which is secreted by various glands of external secretion, has a high viscosity.

The origin of the disease – Causes

It is well established that the disease of cystic fibrosis (cystic fibrosis - CF) is a genetic disease, that is is inherited (it cannot be infected, the disease cannot be provoked by following a harmful lifestyle or work).

It is known that the cause of the disease has no connection with gender - the chances of getting sick in men and women are equal. The type of transmission of the genetic defect is recessive, that is, not the main one. Such diseases are encoded in the genetic material, if they do not occur in both parents, but only in one of them, then the children will be phenotypically healthy.

A quarter of the heirs will be absolutely healthy, half will contain the cystic fibrosis gene in the chromosomal material.

About 5% adult the world's population store information about this disease in their genes. If a child is born to a couple where both parents have damaged chromosomal information, then he suffers from cystic fibrosis in one quarter of cases. This type of transmission of genetic diseases is called recessive.

Also, there is no connection with sex, since the material is not contained in the sex chromosomes. The same number of boys and girls with this disease is born. No additional factors play a role here. Neither the course of pregnancy, the state of health of the mother or father, living or working conditions have any effect. This disease is genetically determined.

In the early nineties of the last century, there was a breakthrough in the diagnosis of the disease. It was clearly established that the mutated gene is located on the seventh chromosome. As a result of mutation, a violation of the synthesis of the protein substance occurs, as a result of which the viscosity of the secret increases, a change in its physical and chemical properties. The nature of the emerging mutation, why it is fixed in the genetic material - the answers to these questions are not fully understood.

Organ changes

Endocrine glands are organs that produce biologically active substances into the blood - hormones that regulate the physiological processes of the body.

In cystic fibrosis, pathological changes in organs and systems occur due to the fact that exocrine glands are affected. What is it? Organs that produce mucous substances necessary for the normal implementation of the corresponding processes:

• breathing;
• digestion;
• removal of harmful substances.

These glands include the pancreas, salivary glands, and glands that produce bronchial secretions. The increased pathological density of the physiologically necessary mucous coating of the surface determines the clinical and pathophysiological picture of cystic fibrosis.

A thick mass accumulates in the lumen of the bronchial tree. As a result, areas of the respiratory organs are turned off from the breathing process, the body does not receive oxygen, emphysema and pulmonary atelectasis.

The pancreas reacts with the formation of areas of fibrous degeneration of tissues, the excretory ducts grow into cystic tissue. Dystrophic changes of fatty and protein origin occur in the liver, bile stagnation, as a result, cirrhosis of the liver. The second, international name for cystic fibrosis comes from this process - cystic fibrosis.

With intestinal obstruction of newborns, the mucous surface of the intestine is predominantly affected, swelling of the submucous layer of the intestine may be present. Cystic fibrosis is often accompanied by other congenital malformations of the gastrointestinal tract. Based on the pathogenetic picture of the disease, it is already becoming clear what kind of disease it is. It is necessary to analyze in detail the clinical syndromes of cystic fibrosis.

Cystic fibrosis symptoms

Symptoms of cystic fibrosis usually begin in early childhood, although they can sometimes develop very soon after birth or appear in adults for a long time.

Some of the main and common symptoms of cystic fibrosis are:

• the skin of the human body is slightly salty;
• body weight - low, thinness below normal, even with healthy appetite;
• violation of the normal activity of the stomach (dyspepsia) - chronic diarrhea, high fat content in feces;
• breathing - wheezing, with a whistle;
• forced exhalation through the mouth (cough) - paroxysmal, painful, with a large amount of sputum;
• frequent infections in the air breathing organ in humans, including pneumonia or bronchitis
• "Drumsticks" - thickening of the fingertips, often with misshapen nails;
• benign neoplasms in the nose - as a result of the proliferation of the mucous membrane of the cavity and sinuses;
• rectal prolapse

Clinical forms of the disease

Depending on the primary lesion, it is customary to distinguish between the clinical forms of the disease:

• pulmonary, bronchopulmonary;
• intestinal;
• meconium obstruction;
• mixed form - pulmonary and intestinal;
• atypical forms.

Since the disease is genetic and is associated with important physiological processes, its clinical manifestations are detected already from the first days of a newborn's life, in some cases, at the stage intrauterine development. The most common type diagnosed in newborns is meconium obstruction.

Symptoms of meconium obstruction

Meconium is called the original feces. These are the first bowel movements of a newborn. In a normal, healthy state, meconium should be released during the first days of a baby's life.

Its delay in cystic fibrosis is associated with the absence of the pancreatic enzyme, trypsin. It does not enter the intestinal lumen, meconium stagnates, mainly in the area cecum and colon. With the progression of stagnation, the following symptoms are observed:

• anxiety, crying baby;
• bloating pronounced;
• first regurgitation, then vomiting joins.

On objective examination on the anterior abdominal wall, the vascular pattern is sharply enhanced, when the abdomen is tapped, the drum sound, the child's anxiety is replaced by lethargy, insufficient motor activity, the skin is pale in color, dry on touch. Phenomena of internal poisoning with decay products are growing.

When listening to the heart, it is determined:

• sinus tachycardia of the heart;
• increased breathing;
• signs of peristaltic bowel movement are not audible.

X-ray examination shows:

• swelling of the loops of the small intestine,
• a sharp decline in the intestinal parts of the lower abdominal cavity.

The condition is rapidly deteriorating, given the small age of the patient, a rather close in time formidable complication is peritonitis, as a result of rupture of the intestinal wall. Pneumonia, which is severe, protracted, may join.

Pulmonary form

With a predominant lesion of the bronchopulmonary apparatus, the first sign is respiratory failure. It is manifested by a pronounced pallor of the skin, a significant lag in weight, while the child's appetite remains. Already in the first days of life, breathing is accompanied by coughing, with a gradual increase in the intensity of the cough. It acquires a resemblance to whooping cough seizures - reprises.

The thick, viscous substrate fills, first of all, the lumens of the small bronchi. Emphysematous areas are formed. Such lung damage is always bilateral, which is an important diagnostic sign. Inevitably, lung tissue is involved in the pathological process, pneumonia develops.

Thick mucus is an excellent breeding ground for microorganisms, causative agents of pneumonia. Sputum quickly becomes mucous - purulent from the mucous membrane, from it during microbiological analysis predominantly streptococcus, staphylococcus are secreted, less often - conditionally pathogenic microorganisms of other groups. Inflammation of the lungs is always severe, protracted, with the subsequent development of complications:

• abscesses,
• pyopneumothorax,
• pneumosclerosis,
• pulmonary and pulmonaryheart failure.

When listening to the lungs, it is possible to clearly differentiate wet rales, mostly finely bubbling. Percussion sound above the surface of the lungs has a boxy tone. The patient is sharply pale, the skin is dry, with sweat a significant amount of sodium salts comes out.

If cystic fibrosis is benign, then its manifestations, including pulmonary ones, can be seen at an older age, when the body already has compensation mechanisms. This is what leads to a slow increase in symptoms, the development of chronic pneumonia, followed by pulmonary insufficiency. Deforming bronchitis gradually forms with the transition to moderate pneumosclerosis.

The upper respiratory tract does not remain without participation, diseases of the paranasal sinuses, adenoids, polypous growths of the nasal mucosa, chronic tonsillitis can join. The defeat of the pulmonary apparatus is reflected in the patient's appearance:

• sharp pallor of the skin;
• cyanosis of the limbs or skin in general;
• dyspnea at rest;
• the characteristic shape of the chest is barrel-shaped;
• deformation of the terminal phalanges of the fingers of the hands - "drumsticks";
• underweight combined with loss of appetite;
• disproportionately thin limbs.

Bronchoscopic examination shows the presence of thick mucus in the lumen of the small bronchi. X-ray examination of the bronchi reflects a picture of atelectasis of the bronchial tree, a significant decrease in the branches of small bronchi.

Symptoms intestinal form

Digestion cannot proceed normally if not enough secretory substances necessary for this process are released. It is the viscosity, the low production of biologically active fluids that causes the insufficiency of digestion in cystic fibrosis.

Clinical symptoms are especially pronounced when the child is transferred to a more varied diet or infant formula. Digestion of food is difficult, food does not move along the gastrointestinal tract. Putrefactive processes are actively developing.

The child's abdomen is sharply swollen, the stool is speeded up, the amount of feces excreted outward exceeds that in a normal state by several times. Appetite is not reduced, it is even possible to eat more food than healthy children. However, at the same time, children suffering from this pathology practically do not gain weight, the tone of muscle tissue is reduced, the elasticity of the skin is also reduced.

During a meal, the patient is forced to consume a lot of fluids, since little saliva is secreted, dry food is difficult to chew. Insufficiency of the secretion of the pancreas, disruption of its work leads to the development of diabetes mellitus, gastric ulcer and duodenal part of the digestive tract.

Since nutrients from food are practically not absorbed, patients suffering from cystic fibrosis have a lack of vitamins - hypovitaminosis, hypoproteinemia. Low plasma protein levels lead to edema, especially in infants.

Liver suffers from congestion in the gallbladder, a significant accumulation of it is found, which entails the development of cholestasis. Outwardly, this phenomenon is expressed by an increase in the liver, yellowness of the skin, dry skin.

Mixed form

One of the most severe clinical forms of the disease. From the first days of life, symptoms of pulmonary and intestinal forms of the disease are revealed:

• severe, lingering inflammation of the lungs, bronchi;
• severe cough;
• hypotrophy;
• bloating, digestive disorders.

There is a direct relationship with the patient's age, in which the disease has become pronounced and the malignancy of its course.

The younger the child, the worse the prognosis for compensating for symptoms and life expectancy.

Diagnosis of the disease

Diagnostic criteria include positive results of the history data, examination of the patient:

• weight loss - hypotrophy, lag in physical development from the age norm;
• chronic recurrent diseases of the bronchi, lungs, paranasal sinuses, increasing respiratory failure;
• pancreatitis, dyspeptic complaints;
• the presence of similar diseases in close relatives, especially in sisters and brothers.

From clinical and laboratory studies, the main ones are:

• sweat analysis for the amount of sodium chloride;
• scatological examination of the chair;
• molecular analyzes using polymerase chain reaction.

The sweat test is the most accepted test. The concentration of salts in the sweat fluid sampled three times should exceed the diagnostic positive threshold of sixty millimoles per liter. The collection of sweat fluid is carried out after provocative electrophoresis with pilocarpine.

A coprological study is carried out in order to establish the amount of chymotrypsin in the stool and the content of fatty acids. With pancreatic insufficiency, their content increases in comparison with the norm and is more than 25 mmol / day.

The content of chymotrypsin is determined using different sets of test systems, therefore, the normative and the exceeding value depends on the type of diagnostic reagents used by a particular laboratory.

Molecular research or DNA diagnostics is the most accurate method. Today, it is widely used, but it has several disadvantages:

• expensive;
• inaccessible in small towns.

Perinatal diagnostics is also possible. For the analysis, a certain amount of amniotic fluid is needed, it becomes possible to carry out it at a gestational age of more than eighteen to twenty weeks. The probability of erroneous results fluctuates within no more than four percent.

Treatment of cystic fibrosis

All therapeutic measures for the diagnosis of cystic fibrosis are symptomatic. They are aimed at alleviating the patient's condition. One of the main directions is to compensate for the lack of nutrients when ingested with food. Since digestion is defective, the diet should contain thirty percent more calories than is normally required.

Diet food

Protein should be the basis of the diet for cystic fibrosis. The amount of fish, meat products, cottage cheese, eggs should be increased, but the proportion of fatty foods should be reduced. It is especially necessary to pay attention to refractory fats - pork, beef. It is necessary to compensate for the lack of fatty foods with medium-saturated fatty acids or polyunsaturated fatty compounds. To break them down, the pancreatic enzyme lipase is not needed, the lack of which is experienced by the body suffering from cystic fibrosis.

It is also necessary to limit the intake of carbohydrates, especially lactose. It is necessary to establish what kind of disaccharidase deficiency is present in the patient. Lactose is milk sugar found in dairy products. Lack of a cleaving enzyme with active use of dairy products leads to aggravation of digestive disorders.

Excessive loss of salt with sweat must be compensated for by adding sodium chloride to food, especially in summer. You also need to remember this in case of diseases accompanied by high fever. Loss of fluid threatens with even greater dryness and difficulty in physiological processes. Drinks should be a significant amount in the daily diet in order for the body to be able to compensate for its loss.

Be sure to include in the list of consumed products those that contain vitamins of all groups, trace elements. Small amounts of butter must be added. There should be a sufficient proportion of fruits, vegetables, root vegetables.

The lack of proper digestion processes is compensated by the appointment of pancreatic enzyme preparations, which are based on pancreatin. A normal amount of stool, a decrease in the dose of neutral fat in the stool is an indicator of the selection of the correct dose of the enzyme. Representatives of the acetylcysteine ​​group are prescribed to enhance the outflow of bile during its stagnation, the impossibility of duodenal intubation.

Treatment of pulmonary pathologies

Mucolytes are prescribed - substances that make the bronchial secretion more liquid. The patient should receive therapy in this direction throughout his life. This includes not only pharmacological drugs, but physical procedures:

• inhalation with a nebulizer;
• physiotherapy;
• vibration massage.

Bronchoscopy is not only a diagnostic measure, but also a curative measure. The bronchial tree is washed using mucolytics or saline if all palliative procedures are ineffective.

The accession of acute respiratory diseases, bacterial bronchitis or pneumonia requires the appointment of antibacterial drugs. Since digestive deficiency is one of the leading symptoms, it is best to administer antibiotics parenterally, through injection or in an aerosol form.

One of the therapeutic measures of a radical order is lung transplantation. The question of a transplant arises when further compensation with the help of therapy has exhausted its possibilities. Transplantation of both lungs at once can significantly improve the patient's quality of life. Transplantation is indicated if other organs are not involved in the disease. Otherwise, the most complicated operation will not bring the desired result.

Forecast

Cystic fibrosis is a complex disease, and the types and severity of symptoms can vary greatly. Many different factors, such as age, can affect a person's health and the course of an illness.

Despite unconditional progress in the diagnosis and treatment of cystic fibrosis, the prognosis remains poor. Death is possible in more than half of the cases of cystic fibrosis. Life expectancy is from 20 to 40 years old. In Western countries, patients can live up to 50 years.

The number of diagnoses containing complex medical terms is growing every year. This is not only due to the fact that public health is not at a low level.

To a greater extent, this is the merit of technical progress, thanks to which more and more advanced diagnostic methods appear. This happens with cystic fibrosis. Over the past decades, patients with such a diagnosis have become more and more.