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

Cystic fibrosis is a hereditary disease caused by a mutated gene, characterized by a pancreatic lesion, complicated disorders of the respiratory organs and the gastric tract.
At the heart of the disease cystic fibrosis, diagnosed at an early age, is a gene mutation. An illness occurs in one child of their two thousand, only about a third of the sick live to the age of thirty. If both parents have a mutated gene, the risk of a child with a disease increases to 25%. As a rule, carriers of an abnormal gene with cystic fibrosis do not get sick.

In newborns who are diagnosed with cystic fibrosis, the symptoms manifest themselves in the first days. Approximately one-third of the newly born appears meconial obstruction, as a result of blockage of the distal region of the small intestine by viscous and dense meconium. By the second day after birth, sick children become restless, they have bloating, vomiting or regurgitation. A few days later, the child's condition worsens, due to the increase in intoxication. If the obstruction begins complications in the form of meconial peritonitis and intestinal perforation.
Also there is a constant cough, disturbances of a chair, children lag behind in the physical plan - all this causes a cystic fibrosis. Symptoms can predominate one upon another. For example, cough is usually associated with the appearance of an infection of the upper respiratory tract. In the beginning it is dry and rare, then progresses and becomes chronic. As a result, coughing attacks begin to provoke vomiting.

In patients who have cystic fibrosis, the symptoms are expressed in the form of frequent abundant stinking stools, with the content of undigested remnants of food. Fecal masses are difficult to wash off from diapers or a pot, possibly having visible fatty impurities. In some patients, rectal cancer may occur.
In 70 percent of cases, the disease is determined in the first 2 years of the child's life. At the 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, symptoms can be met extremely rarely, 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-fledged long life. And the earlier the diagnosis is made, the treatment is started, the more guarantees that the patient's condition will be better. Success in the treatment of the disease led to such results that allow women with a terrible diagnosis to reach childbearing age. There are tendencies to an increase in survival rate.
In patients with cystic fibrosis during life, it is necessary in large doses to take medications that destroy and participate in the mucus compartment. For growth and development, children are given enzyme preparations, otherwise food will cease to be absorbed. Proper nutrition plays an important role. To control the infection of the respiratory organs, to stop and prevent exacerbations, you need antibiotics. If cystic fibrosis occurs, the symptoms of which are expressed in liver lesions, regular use of hepatoprotectors will be required, which improve the function of the liver cells and dilute the blood.

In the 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. The intake of vitamins is prescribed. Sick children should be constantly under the supervision of a doctor. If the disease does not progress, hospitalization will not be required. In the garden of sick children, it is not recommended to drive, in the school for them a special regime is organized.