Cystic Fibrosis: Symptoms, Diagnosis, Treatment

Cystic fibrosis is a hereditary disease that affects organs that produce mucus such as the liver, bronchopulmonary system, pancreas, salivary, sweat glands, gonads, intestinal glands. Therapeutic care for patients consists of correctly selected drug therapy, regular check-ups and in-patient treatment during exacerbations.

Causes of the disease

The main cause of cystic fibrosis is a gene mutation of the transmembrane regulator of cystic fibrosis. With the help of this protein, the movement of electrolytes through the cell membrane is regulated. This mutation causes a disruption in the function and structure of the synthesized protein. All this leads to excessive viscosity and density of secretion, which secrete this gland.

Symptoms of cystic fibrosis

Cystic fibrosis is manifested in such forms:

• broncho-pulmonary form;
• intestinal form.

Broncho-pulmonary form .Signs of the defeat of the respiratory organs appear in the first years of the child's life. Viscous sputum in large quantities begins to accumulate in the bronchi, reducing its separation. Appears painful, obtrusive, cough. Sputum is difficult to separate. If the disease worsens, then the temperature rises, dyspnea increases, cough.

Intestinal form of .With this form, the inactivity of the gastrointestinal tract is manifested. This is especially evident when the child is transferred to artificial feeding. Decreased splitting, absorption of nutrients, in the intestine, putrefactive processes are observed, which are accompanied by the accumulation of gases. There is a very frequent stool, cramping abdominal pain, caused by bloating. In the first months, the appetite remains or even increases. However, after the violation of digestive processes in patients can quickly develop hypotrophy, polyhypovitaminosis.

In many children, the disease manifests itself in the form of intestinal obstruction. In these cases, the patient appears vomiting with bile. There is bloating, lack of stool. After 12 days the child's condition becomes worse: a vascular pattern appears on the skin of the tummy, the skin becomes dry and pale, the symptoms of intoxication increase.

In many patients, salt crystals appear on the skin, regardless of the form of the disease.

Diagnosis of the disease

If you suspect a disease, the district pediatrician sends the patient to a special center for the treatment of the disease.

To diagnose this disease, there must be 4 main factors. The first factor is the chronic bronchopulmonary process. The second factor is the intestinal syndrome. The third factor is cases of illness in the family. The fourth factor is the positive result of the blood analysis. This test is based on the concentration of potassium chlorides. In a sick child this figure is higher than normal. However, it must be remembered that a negative result does not exclude the disease by 100%.

With the diagnosis of cystic fibrosis, the doctor will send the family to the genetic analysis. This is necessary to establish the correct and accurate diagnosis, as well as for diagnosis in the following pregnancies.

Your actions in case of a child's illness

After seeing the child's symptoms, consult a pediatrician as soon as possible. If you make a diagnosis in time, start the right treatment, this will lead to a better state of the child. Parents play a very important role in the treatment of children from cystic fibrosis. Since the therapy of this disease lasts a lifetime and it requires the performance of all prescribed recommendations of the doctor. And only the parents, being near the child every minute, will be able to see the changes in the state of the child's health. All this will help to get help from doctors in time. If the baby has lethargy, decreased appetite, increased cough, fever, discoloration, sputum, obvious stool disorders, abdominal pain, these are all the first signs of an exacerbation. Usually, during an exacerbation, hospitalization in a hospital is necessary.

Medical care for the disease

Depending on the severity of the disease, the treatment takes place at home, in hospitals, in hospitals. The disease therapy is of a complex nature. It is aimed at dilution and removal of sputum from the bronchi. Therapy should be done every day and for life.

Prevention of

If you have had cases of cystic fibrosis, then you need advice from medical genetics when planning your pregnancy. In modern medicine, there was the possibility of prenatal diagnosis of the disease in the fetus. Contacting the antenatal clinic at every new pregnancy in the early stages of pregnancy can protect and protect your baby from the disease.