What is cystic fibrosis? Causes, symptoms, treatment

Cystic fibrosis is an incurable genetic disease that affects the organs responsible for secretion of mucus. This problem can occur from the respiratory tract, pancreas and liver, genitals and sweat channels. Lately this disease has become quite common, at the same time consider his appearance is hardly possible. Because sick children often appear and at absolutely healthy parents.

Cystic fibrosis: causes, symptoms, treatment

What is cystic fibrosis?

In the body of any human endocrine glands produce various fluids. All these secrets or selection is extremely important for the human body, and how to perform their particular role. So, tears to moisturize the cornea, and lung mucus helps to get rid of bacteria and dust in this body. Patients with this disease also produces the necessary secrets, but in a more viscous and dense form, which leads to congestion and «gluing» of the ducts. Such phenomena complicate the work of the pulmonary tract and gastrointestinal tract, leading to problems with the respiratory and digestive system.


Cystic fibrosis is an inherited disease, and «damaged» DNA that cause the disease are present in 5% of the population. It is extremely difficult to predict, because «the media» may not even suspect about the existence of their body of «bad» genetic material. But the development of this pathology is extremely rare, because in order to start the process, it is necessary that the child has inherited the «broken» genes from both parents. And this happens only in 25% of cases. To identify the presence of genes of this disease is possible only by using a special DNA-tests, but not always. Because such studies are conducted to recognize 40 of the most common genetic mutations, while their number reaches 2000.

Cystic fibrosis: causes, symptoms, treatment


There are the following main forms of the disease:

  • Combined. The most common type of disease that is seen in 70-80% of patients.
  • Bronchopulmonary form is less common and accounts for 15-20% of all cases.
  • The intestinal form is very rare and is recorded in 5% of patients.

At the mixed form of the disease in children 1-2 year of life begin to show signs of defeat of respiratory organs. In the bronchi accumulate a large amount of mucus while its branches is greatly reduced. This leads to the fact that the patient is starting to feel painful and paroxysmal cough. If the exacerbation with the addition of the bacterial infection develops recurrent bronchitis, pneumonia, the temperature rises to 38-39°C and increasing cough with shortness of breath. Late stage of the disease leads to pulmonary insufficiency which may develop emphysema and pulmonary fibrosis.

Cystic fibrosis: causes, symptoms, treatment

Symptoms of gastrointestinal tract

With regard to intestinal tract, the disease manifests itself in the first months of life. The babies have difficulty digesting fats milk, so the stool becomes oily and smelly. In addition, increased stool frequency. The appetite is at first normal or elevated, but the child is not gaining weight, which leads to malnutrition and polyhypovitaminosis.

The lack of salt in the body

Disease cystic fibrosis is accompanied by another symptom – a change in the composition of sweat fluid, which significantly increases the amount of sodium. This leads to salt deficiency at the time when the patient starts sweating. Manifestations of this phenomenon:

  • Convulsions.
  • Pain in the abdomen.
  • Dehydration.
  • Lethargy.
  • The increase in temperature.

Diagnosis of the disease

So recently, cystic fibrosis was diagnosed only after symptoms of the disease, but now in the world of medical practice, including in Russia, decided to carry out tests to detect this disease each newborn on day 4-5 of life. For this the child take blood from the heel. Followed by a test of the level of enzyme secreted by the pancreas. If the rate of secretion exceeds the norm, then baby sent for the sweat test – this analysis is essential in diagnosis of the disease.

Cystic fibrosis: causes, symptoms, treatment

To conduct this test to the newborn injected under the skin of pilocarpine, a drug that stimulates sweating. Then gather with a cloth the liquid and determine the amount of salts. If the sample result exceeded 60 mmol/l, the diagnosis is considered confirmed.

The treatment of the disease

Most parents after the diagnosis begin to wonder what kind of disease is cystic fibrosis and how to treat it. This disease is incurable, so take steps today it is impossible. But this should not be a «sentence», because with an appropriate level of treatment and prevention, you can avoid all of the manifestations of this disease, and people with this diagnosis can lead an active and fulfilling life as any healthy person. But to take the drugs the patient would have every day for the rest of his life.

Cystic fibrosis: causes, symptoms, treatment

Treatment and prevention of this disease depends on the patient and may be carried out in specialized departments of the hospital and at home. Therapy of this disease is complex and is aimed at addressing all the symptoms of the disease. That is, the drugs are taken to thin the mucus and removal of sputum and respiratory infections, as well as to replace missing secrets of the pancreas.

Most often this involves receiving mucolytics – special drugs intended for the treatment of this disease. Also to maintain the General condition of the patient is recommended to take multivitamin complexes. A special place in the prevention and treatment of cystic fibrosis take daily classes special gymnastics, kinesitherapy. This set of breathing and physical exercises were designed to combat cystic fibrosis.

Video about cystic fibrosis

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