Hereditary disease - cystic fibrosis: symptoms and manifestations of the disease

Cystic fibrosis is a hereditary disease caused by a mutated gene, characterized by damage to the pancreas, complex dysfunctions of the respiratory organs and gastric tract.
The basis of the disease cystic fibrosis, the diagnosis of which is made at an early age, lies a gene mutation. An illness occurs in one child of their two thousand, only about a third of the sick survive to thirty years of age. If both parents have a mutated gene, then the risk of having a baby with a disease increases to 25%. As a rule, carriers of the abnormal cystic fibrosis gene do not get sick.

In newborns who are diagnosed with cystic fibrosis, symptoms appear in the early days. About a third of those born have meconium obstruction, as a result of blockage of the distal region of the small intestine by viscous and thick meconium. By the second day after birth, sick children become restless, they have bloating, vomiting or regurgitation is noted. After a few days, the condition of the child worsens, due to increased intoxication. With obstruction, complications begin in the form of meconium peritonitis and intestinal perforation.
There is also a constant cough, stool disorders, babies lag behind physically - all this causes cystic fibrosis. Symptoms may prevail over each other. For example, coughing is usually associated with an upper respiratory tract infection. In the beginning, it is dry and sparse, then progresses and becomes chronic. As a result, coughing fits begin to provoke vomiting.

In patients who have cystic fibrosis, the symptoms are expressed as frequent profuse fetid stool, with undigested food residues. Fecal matter is difficult to wash off from the diaper or pot, the presence of visible fatty impurities is possible. In some patients, prolapse of the rectum may occur.
In 70 percent of cases, the disease is determined in the first 2 years of a child's life. In preschool age, the detection of cystic fibrosis is associated with a mild form of mutation and the preservation of the pancreas. In adulthood, cases of cystic fibrosis disease, symptoms can be extremely rare, only in atypical clinical cases.

Today it is impossible to completely get rid of the anomaly. Patients with a diagnosis of cystic fibrosis treatment on an ongoing basis can guarantee a full long life. And the sooner the diagnosis is made, the treatment is started, the more guarantees that the patient's condition will be better. Advances in the treatment of the disease have led to such results that allow women with a terrible diagnosis to reach childbearing age. There is a tendency to increase survival.
Patients with cystic fibrosis during life must take large doses of drugs that destroy and participate in the separation of mucus. For growth and development, children begin to give enzyme preparations, otherwise the food will cease to be absorbed. An important role is played by proper nutrition. To control the infection of the respiratory system, antibiotics are needed to stop and prevent exacerbations. If cystic fibrosis occurs, the symptoms of which are expressed in liver lesions, regular use of hepatoprotectors, which improve liver cell function and thin the blood, is required.

During treatment, it is required to follow a certain diet, the content of which is an increased amount of protein, the presence of fats and carbohydrates should correspond to age. Appointment of vitamins. Sick children should be constantly monitored by a doctor. If the disease does not progress, hospitalization is not required. It is not recommended to drive sick children into the kindergarten; a special regimen is organized for them in the school.


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