Cystic fibrosis, is that kind of disease? Symptoms and Treatment

Cystic fibrosis - a serious congenital disease characterized by tissue damage and impaired secretory activity exocrine glands, as well as functional disorders, especially of the respiratory and digestive systems. Changes in cystic fibrosis affects the pancreas, liver, sweat glands, salivary glands, intestines, bronchopulmonary system.

The disease is an inherited, autosomal recessive inheritance (from both parents carriers of the mutant gene). Abnormalities in organs in cystic fibrosis occur already in the prenatal stage, and with the age of the patient progressively increasing. The earlier manifested cystic fibrosis, the harder the course of the disease, and the more serious it can be forecast. In connection with a chronic pathologic process, patients with cystic fibrosis need constant surveillance and treatment specialist.

What it is?

Mukovistsidz - systemic hereditary disease caused by a mutation of transmembrane regulator gene cystic fibrosis and is characterized by lesions of exocrine glands, severe organ dysfunction breathing. Cystic fibrosis is of particular interest not only because of the wide distribution, but also because it is one of the first hereditary diseases, who are trying to treat.

Etiology and pathogenesis

The gene responsible for cystic fibrosis, was cloned in 1989. This allowed to find out the nature of the mutation and to improve the method for detecting carriers. The disease is a mutation in the CFTR gene, which is localized in the middle of the long arm of chromosome 7. Cystic fibrosis is inherited in an autosomal recessive manner and is registered in most European countries, with a frequency of 1: 2000 - 1: 2500 newborns. In Russia, the average frequency of disease 1: 10,000 newborns. If both parents are heterozygous (are carriers of the mutated gene), the risk of a patient with cystic fibrosis child birth is 25%. Carriers only one defective gene (allele) does not suffer from cystic fibrosis. According to studies the frequency of heterozygous carrier abnormal gene is 2-5%.

Identification about 2000 cystic fibrosis gene mutations. The consequence of gene mutation is a disturbance of the structure and function of the protein, called the cystic fibrosis transmembrane conductance regulator (MITI). A consequence of this condensation is secrets exocrine glands, secretion evacuation difficulty and a change in its physical and chemical properties, which, in turn, leads to the clinical picture disease. Changes in the pancreas, the respiratory tract, the gastrointestinal tract is already registered in the prenatal period and the age of the patient has been steadily increasing. Isolation of exocrine gland secretion viscous resulting in difficulty with outflow and stagnation followed by expansion of the excretory ducts glands atrophy and development of glandular tissue progressive fibrosis. Active enzymes bowel and pancreas significantly reduced. Along with the formation of multiple sclerosis has been a violation of fibroblast function in organs. It is established that patients with cystic fibrosis fibroblasts produce ciliary factor, M-factor which has antitsiliarnoy activity - it disrupts the ciliary epithelium.

It is now considered possible involvement in the development of lung disease in CF genes responsible for the formation of immune response (in particular, the genes of interleukin-4 (IL-4) and its receptor), and genes encoding the synthesis of nitric oxide (NO) in body.

symptoms

Depending on age, the onset of the first symptoms and the duration of the disease course, clinical symptoms mukovistsidova vary within wide limits. But, in the majority of cases, symptoms of the disease is determined by the defeat of the respiratory system and gastrointestinal tract.

It so happens that in isolation affected bronchopulmonary system or gastrointestinal tract.

Cardiac insufficiency in cystic fibrosis

Chronic diseases of the lungs, bronchi destroying skeleton disturbed gas exchange and oxygen supply to the tissues, will inevitably lead to complications of the cardiovascular system. The heart can not push blood through the diseased lungs. Gradually compensatory cardiac muscle increases, but to a certain limit, above which heart failure occurs. In this case, gas exchange, and already broken, even more weakened. The blood accumulates carbon dioxide and very little oxygen, necessary for normal functioning of all organs and systems.

Symptoms of cardiovascular disease depends on the compensatory capacity of the organism, the severity of the underlying disease and each patient individually. The main symptoms are defined by increasing hypoxia (lack of oxygen in the blood).

Among them, the main ones being:

1. Dyspnea at rest, which increases with increasing physical activity.
2. Cyanosis of the skin, first the toes, tip of the nose necks, lips - they say Crocq's disease. With the progression of the disease, cyanosis increases throughout the body.
3. The heart begins to beat faster, how to compensate for the lack of blood circulation. This phenomenon is called tachycardia.
4. Patients with cystic fibrosis are far behind in physical development, underweight and growth.
5. Appear edema of the lower extremities, especially in the evening.

Symptoms of cystic fibrosis in the defeat of the bronchi and lungs

Characteristic is the gradual onset of the disease, the symptoms of which increase with time, and the disease takes a prolonged chronic form. At birth, the baby has not yet developed fully reflexes sneezing and coughing. Therefore phlegm accumulates in large quantities in the upper airways and bronchi.

In spite of this, the disease first begins to be felt until after the first six months of life. This fact is explained by the fact that nursing mothers starting from the sixth month of the child's life, it is converted to a mixed feeding, and the amount of breast milk decreases in volume.

Mother's milk contains in its composition a lot of beneficial nutrients, including immune cells are transferred with him to protect a child from exposure to pathogenic bacteria. Lack of breast milk immediately reflects on the immune status of the infant. Together with the fact that the stagnation of the viscous sputum certainly leads to infection of the mucous membrane of the trachea and bronchi, it is not difficult to guess why since six months old, for the first time begin to show signs of a lesion of the bronchi and lungs.

So, the first symptoms of the bronchi lesions are:

1. Cough with scanty viscous sputum. Characteristic of the cough is its permanence. Cough wears baby disrupts sleep, overall. When coughing is changed skin color, pink hue changes to cyanotic (bluish), shortness of breath.
2. The temperature may be normal or slightly increased.
3. The symptoms of acute intoxication are absent.

The lack of oxygen in the inspired air leads to the fact that delayed the overall physical development:

1. Child poorly gaining weight. Normally, in a year, with a body weight of about about 10.5 kg., The children who are suffering from cystic fibrosis, significantly nedobirayut necessary kilograms.
2. Lethargy, pallor and lethargy are hallmarks of developmental delay.

Upon accession of infection and spread of the pathological process deeper into the lung tissue, develop severe pneumonia with a number of characteristic symptoms in the form of:

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

Recurrent acute pneumonia gradually destroy lung tissue and lead to complications in the form of such diseases as: bronchiectasis pulmonary disease, emphysema. If the patient fingertips change shape and become a drum fingers and nails rounded in the form of time windows, it represents that there is a chronic disease lungs.

Other typical symptoms are:

1. Shape of the chest becomes barrel.
2. Dry skin loses its firmness and elasticity.
3. Hair loses shine, becomes brittle, falling out.
4. Permanent shortness of breath, increasing a load.
5. Cyanotic complexion (cyanosis) and all of the skin. Due to a lack of oxygen supply to the tissues.

Symptoms of cystic fibrosis in lesions of the gastrointestinal tract

If it affects the exocrine pancreatic glands having symptoms of chronic pancreatitis.

Pancreatitis - an acute or chronic inflammation of the pancreas, the distinctive feature of which is the expression of disorders of the digestive system. In acute pancreatitis, pancreatic enzymes are activated within the gland ducts, destroying them and out into the bloodstream.

In the chronic form of the disease outer gland secretions of cystic fibrosis are undergoing early pathological changes, and replaced by connective tissue. Pancreatic enzymes in this case is not enough. This determines the clinical picture of the disease.

The main symptoms of chronic pancreatitis:

1. Bloating (flatulence). Insufficient digestion leads to flatulence.
2. A feeling of heaviness and discomfort in the abdomen.
3. Character zoster pain, particularly after receiving abundant fatty, fried food.
4. Frequent diarrhea (diarrhea). Not enough pancreatic enzymes - lipase, which recycles oil. In the colon accumulates a lot of fat, which draw water into the intestinal lumen. As a result, the chair becomes liquid, smelly and has a characteristic shine (steatorrhea).

Chronic pancreatitis in combination with gastrointestinal disorders leading to malabsorption of nutrients, vitamins and minerals from food intake. Children with cystic fibrosis are poorly developed, is delayed not only physical, but also the overall development. Weakened immune system, the patient more susceptible to infection perception.

Liver and bile duct affected to a lesser degree. Pronounced symptoms of liver disease and gallbladder appear much later than other manifestations of the disease. Typically, in the later stages of the disease can be identified liver enlargement, some yellowness of skin associated with the stagnation of bile.

Urinary organs function disorders manifested in delayed sexual development. Mostly boys in adolescence, there is a complete sterility. The girls also reduced the possibility of conceiving a child.

Cystic fibrosis inevitably leads to tragic consequences. Growing set of symptoms leads to the patient's disability, inability to self-care. Constant aggravation from bronchopulmonary, cardiovascular system harass the patient, creating a stressful situation is heating up the already tense situation. Proper care, compliance with all rules of hygiene, preventive treatment in a hospital, and other necessary activities - extend the life of the patient. According to various sources, patients with cystic fibrosis live about 20-30 years.

Symptoms in adults

Deleted forms of the disease usually detected in adults with a random survey. They are related to the particular embodiments mutations in pathological gene which lead to a slight shock epithelial cells.

The disease occurs under the "guise" of other pathological processes in respect of which a thorough examination begins:

• inflammation of the sinuses;
• recurrent bronchitis;
• cirrhosis of the liver;
• male infertility - associated with obstruction of the spermatic cord or atrophy, as a result sperm can not enter the sperm;
• female infertility - associated with increased viscosity of the cervical secretion, which violates the transportation of sperm into the uterus, detaining them in the vagina.

Therefore, all patients with infertility, the cause of which the standard methods are unable to detect the survey should be referred to a geneticist. Analysis of genetic material and further biochemical analyzes reveal the erased form of cystic fibrosis.

complications

Children with cystic fibrosis, have a lot of complications in the body, which later lead to death. Severe disease occurs in the absence of treatment or frequent interruption, failure to comply with the doctor's recommendations.

In all glands that produce enzymes in the body, a viscous slime. Inappropriate secretion of enzymes leads to organ damage.

1. The pancreas does not produce a sufficient amount of enzyme that leads to the defeat intestinal malfunction of gastrointestinal tract, liver damage, diabetes, intestinal obstruction, cirrhosis.
2. lung disease affects the heart, cardiovascular system function is impaired. Complications, "pulmonary" heart, heart failure.
3. From the side of respiratory system: hypertension, eczema bronchopulmonary share, asthma, sinusitis, bronchiectasis, development pulmonary bacterial destruction, diabetes, bronchitis, pneumonia, pneumothorax, atelectasis, pulmonary fibrosis, respiratory failure, and many others.
4. Cystic fibrosis in women as in men can cause infertility.

Observed fibrosis in different organs, when the connective tissue grows and replaces the normal cells.

Diagnostics

Timely diagnosis is very important in terms of prognosis in cystic fibrosis life of a sick child. Pulmonary cystic fibrosis form differentiated with obstructive bronchitis, whooping cough, chronic pneumonia other genesis, bronchial asthma; intestinal form - with impaired intestinal absorption occurring in celiac disease, malabsorption, intestinal dysbiosis, disaccharidase failure.

Statement of cystic fibrosis diagnosis includes:

1. General blood and urine analysis;
2. Study family family history, early signs of the disease, the clinical manifestations;
3. Microbiological examination of sputum;
4. Coprogram - feces study the presence and content of fat tissue, muscle fibers, starch (determines the degree of enzymatic disorders of the digestive tract glands);
5. Bronchoscopy (reveals the presence in the bronchi thick and viscous mucus in the form of filaments);
6. Bronchography (detects characteristic "droplet" bronchiectasis, bronchial defects);
7. Spirometry (determines the functional state of lungs by measuring the volume and velocity of the exhaled air);
8. Radiography (reveals infiltrative and sclerotic changes in the bronchi and lungs);
9. Molecular genetic testing (blood or DNA samples for the presence of gene mutation of cystic fibrosis);
10. Sweat test - investigation sweat electrolyte - the main and most informative analysis of cystic fibrosis (reveals a high content of chlorine and sodium ions in a patient with cystic fibrosis sweat);
11. Prenatal diagnosis - newborn screening for genetic and congenital diseases.

cystic Fibrosis treatment

Depending on the severity, treatment may be carried out in a specialized hospital or at home. The goal of therapy - the fight against the development of complications, alleviating the child's condition, but to cure this disease at the present level of development of medicine possible. Cystic Fibrosis Treatment should be comprehensive.

With the prevalence of lesions of the digestive tract used:

1. Vitamin: vitamin complexes with trace elements.
2. When used gepatoprotektory liver injury (Enerliv, Gepabene, Essentiale forte, glutargine et al.). Good effect has ursodeoxycholic acid in combination with taurine. With the development of liver failure is performed a liver transplant. In severe lesions and lung, and liver transplantation is possible liver and lungs.
3. Constant reception of enzyme preparations. Effective preparations Pancreatin, pantsitrat, Mezim forte, Creon.
4. Dining with cystic fibrosis should be above the age norm of calories, vitamins and trace elements. Assigned protein diet, and not limited to fats, provided continuous use of enzyme preparations.

When pulmonary pathology are applied:

1. When bronchospastic syndrome inhalations with bronchodilators.
2. Mucolytics order to liquefy sputum (internal receiving and inhaled): ACC, Fluifort (not only reduces the viscosity of mucus, but also restores the function of the cilia in the airways), or amiloride Pulmozyme. Mucolytics and may be administered via a bronchoscope, followed by suction secretions and administration of the antibiotic directly in the bronchi.
3. Antibiotics to influence the pathogenic flora, cause inflammation. Cephalosporins are used for 3 generations, aminoglycosides, fluoroquinolones, depending on the sensitivity of the selected pathogen. Used injectable and inhaled route of administration.
4. Corticosteroids, antitsitokiny, protease inhibitors and non-steroidal anti-inflammatory agents are assigned to more rapid relief of the inflammatory process.
5. Kinesiotherapy: a special set of breathing exercises, promotes the release of airway mucus. Such exercises are conducted on a daily basis and for life.

As mentioned earlier, cystic fibrosis is an incurable disease, but competent maintenance therapy can significantly facilitate and extend the life of patients.

Recent developments in the treatment of cystic fibrosis

Currently, the search for the gene therapy of the disease is almost stalled. Therefore, scientists have decided not to act on the very cause of the disease, and cystic fibrosis development mechanism. It was determined that thickening secrets glands is due to their lack of a microcell (chlorine). Accordingly, increasing its concentration in these fluids, can significantly improve the course of disease.

To this end, a medication VX-770, which partially restores the normal ratio of chlorine. In clinical trials, doctors succeeded in reducing the exacerbation rate almost 61%, improve the respiratory function by 24% to achieve a gain in weight by 15-18%. This is a significant success that allows us to say that in the foreseeable future, cystic fibrosis can be treated successfully, not just eliminate the symptoms. At this point, the VX-770 pass additional tests in the sale it will appear not earlier than 2018-2020.

Forecast

The prognosis of cystic fibrosis hitherto remain unfavorable. Mortality is 50-60% among young children - above. With late diagnosis and inadequate treatment prognosis is much less favorable. Great importance is the genetic counseling of families in which there are patients with cystic fibrosis.

The criterion of the quality of diagnosis and treatment of cystic fibrosis is the average length of life of patients. In European countries this figure reaches 40 years in Canada and the US - 48 years, while in Russia - 22-29 years.

prevention

With regard to prevention of cystic fibrosis, one of the most important measures to prevent disease considered a prenatal diagnosis, which can be used to identify the presence of a defect in the seventh gene even before the delivery. To strengthen the immune system and improve the living conditions of all patients requires careful care, a full nutrition, good personal hyenas, moderate exercise, and to ensure the most comfortable conditions for residence.