Cystic fibrosis

Over the past 10-15 years in the medical literature (and therefore on the Internet too), one can increasingly see the statistics of patients with cystic fibrosis. "What kind of disease is this?" - Many ordinary people are interested in seeing an incomprehensible word. Meanwhile, the disease, which got its name only in the 30s of the twentieth century, is one of the most ancient among the white race.

Cystic fibrosis: general description

Cystic fibrosis: general description

The disease is systemic in nature, is not infectious, is not cured. These characteristics indicate the seriousness of cystic fibrosis (from the Latin. Mucus - "secret, mucus", viscidus - "thick, viscous"). Increased mucus viscosity (namely, so is cystic fibrosis) is a hereditary disease, and the most common in this category of diseases. In Russia, for 10,000 healthy children, 4 patients are born. This is a fairly large percentage.

Violation of the viscosity of the secret, which is secreted by various organs, is due to the fact that the so-called "broken" gene is transferred from the parents to the human body. As a result, the protein, which is its product, does not form a channel for the transport of mucus salts - and the secret becomes thick. In turn, the ducts become blocked, and the functioning of the bronchial tree, pancreas, liver and intestines is impaired. This can lead to:

  • persistent respiratory tract infections (bronchitis, pneumonia);
  • cirrhosis of the liver;
  • stones in the gallbladder;
  • cystic fibrosis.

Any of the diseases without timely treatment, under certain circumstances, can be fatal.

And, nevertheless, patients with cystic fibrosis are full-fledged people who can create families and bear children. Moreover, it is not a fact that even a sick parent will be born a child doomed to illness and suffering. However, the carrier of "damage" he will still. It is possible to diagnose the disease already in the first 2 years of a child’s life, although in 4% of cases a genetic disorder is found in adulthood. Having understood what a disease is cystic fibrosis, we will study its main symptoms.

Forms and symptoms of the disease

At the moment, 3 forms of the disease are known:

  • pulmonary bowel, diagnosed in 80% of cases;
  • bronchopulmonary, found in 15% of patients;
  • intestinal, which affects 5% of patients.

A common feature of all forms is salted skin. Salt crystals can be deposited on the face, under the arms. This manifestation of problems in the body is called "salt child syndrome".

salty baby syndrome

Consider the symptoms of each type separately. So, intestinal cystic fibrosis leads to insufficient enzymatic activity of the gastrointestinal tract in the first days after the birth of a child. This is manifested:

  • diarrhea (up to 28 times the age limit);
  • abdominal distention and cramping pains;
  • increased appetite on the background of malnutrition (dystrophy);
  • meconium obstruction with bile in vomitus;
  • pale skin;
  • lethargy;
  • adynamia.

Symptoms of broncho-pulmonary cystic fibrosis in children, which manifests itself in 1-2 years, are:

  • lingering, haunting cough;
  • difficult to discharge sputum;
  • frequent bronchitis;
  • periodic increase in body temperature to 38-39 degrees;
  • dyspnea.

In the combined form, these symptoms appear simultaneously, but for indications for genetic analysis of the whole family, it is necessary to have:

  • intestinal syndrome;
  • chronic broncho-pulmonary diseases;
  • cases of cystic fibrosis in the family;
  • positive test sweat.

Symptoms of cystic fibrosis in adults

As already mentioned, in adults this genetic disorder is rarely diagnosed, usually the disease is already determined in childhood. But if it happened in maturity, a combination of pancreatitis with is considered signs of intestinal cystic fibrosis:

  • problems in the digestive tract - constipation or diarrhea;
  • cholecystitis of chronic nature.

In the broncho-pulmonary form are observed:

  • the formation of polyps in the nasopharynx;
  • recurrence of bronchitis and pneumonia;
  • exacerbations of sinusitis, sinusitis;
  • purulent sputum with prolonged cough.

In cases of pulmonary intestinal cystic fibrosis patients suffer:

  • physical underdevelopment with normal or high intelligence development;
  • thickening of fingers and toes ("Hippocrates fingers");
  • diseases of the genitourinary system;
  • impotence.

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Diagnostics

in the case of cystic fibrosis we are talking about a genetic disease

Since in the case of cystic fibrosis we are talking about a genetic disease, DNA analysis is considered the most accurate. It can be done already during pregnancy (the error is only 3%). For this, a sample of amniotic fluid is taken at week 8. As for children and adults, in addition to DNA testing, the doctor may prescribe:

  • feces analysis - to determine the amount of fatty acids in the stool;
  • sweat sample - to study the concentration of salts in the liquid.

In the case of the latter, the objectivity of the data is determined only after a threefold analysis.

Treatment

Cystic fibrosis is an incurable disease, so therapy is symptomatic. The patient receives medical care depending on the severity of the condition. In this case, drugs are prescribed that:

  • diluted and removed phlegm;
  • replace the lack of pancreatic enzymes;
  • eliminate stagnation of bile.

Cystic fibrosis - an incurable disease

The patient is prescribed a large dose:

  • mucolytics (Pulmosis) using a compressor inhaler;
  • antibiotics to control respiratory infections (Fortum, Tiens, Meronem, and others);
  • enzymes (Creon, Pancytrat, etc.) on the background of a diet;
  • fat soluble vitamins.

A lifelong way to facilitate the course of cystic fibrosis is kinesitherapy - special breathing exercises.

In severe cases of the disease, you may need:

  • an oxygen concentrator needed to relieve asthma attacks;
  • oxygen cylinders if the need arises to transport heavy patients;
  • pulse oximeter regulating the flow of oxygen.

In case of severe organ damage, transplantation may be required. However, for a liver, kidney, and heart transplant, against the background of cystic fibrosis, domestic doctors are not yet taken.

Non-traditional methods of treatment (decoctions, infusions) are not considered effective, they are more psychological assistance and can be used only in conjunction with drug therapy.

Even patients with cystic fibrosis do not always understand what kind of disease it is. A complex genetic disorder, the occurrence of which has no explanation, is not treated at this stage in the development of medicine. But to alleviate the course of the disease, you can prevent the death of the patient. To do this, you must carefully consider the health of children, be on time for necessary examinations with specialists, and follow all the recommendations of the pediatrician. And, of course, do not neglect genetic analyzes, especially during pregnancy.

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