Cystic fibrosis - a serious genetic disease in which in the last century, most of the children died. Today, the treatment of cystic fibrosis has been overlooked. When correctly and in a timely manner prescribed treatment newborns with mukovitsidozom have a chance of survival.

What is cystic fibrosis, and why it develops

Cystic fibrosis - a serious systemic hereditary disease that affects exocrine glands. Mostly affects the respiratory and digestive system. This is one of the most common hereditary diseases, the cause of his gene mutation of cystic fibrosis. This gene regulates the transport of electrolytes (mainly chlorine) through the membrane of cells lining the ducts of exocrine glands. Mutation leads to disruption of the structure and function of protein synthesized, whereby secretion produced by these glands becomes excessively thick and viscous.

Such mutations showed a lot today. This leads to increased viscosity secrets of exocrine glands, difficulty of their removal from the body, which cause changes in the body concerned. Such changes occur in the organs of the fetus in utero and grow after birth.

Stagnation of viscous secretions in the affected organs leads to the gradual replacement of connective and glandular tissue loss of organ function. Connective tissue cells (fibroblasts) thus release a special substance (ciliary factor or M-factor), which disrupts the cilia (cilia normally help remove the secret).

Cystic fibrosis is manifested in different forms: an intestinal, broncho-pulmonary and mixed.

Symptoms of intestinal form of cystic fibrosis

The intestinal form of cystic fibrosis - a rare form of the disease, it develops in approximately 5% of patients on the background of the enzymatic deficiency: thick mucus prevents digestive enzymes the pancreas and liver into the intestine and involved in the breakdown of food. As a result of the wrong food is digested in the gut develop the processes of decay with the release of large amounts of gases and toxic substances. It poisons the child's body, resulting in stunted physical and psychological development.

The first sign of cystic fibrosis is a frequent chair, the daily volume of stool can be several times higher than the age limit. Flatulence causes colic and constant worry baby.

In the first months after birth, the child usually is actively breastfeeding, but with the growth of changes in the organs of digestion the child's condition worsens, it lags behind in weight, he shows signs of a lack of essential vitamins Vitamins for everyone . Vividly digestive disorders are manifested after the first feeding First solid foods: cook or buy? .

In some newborn cystic fibrosis seen in the first days of life as meconium ileus (meconium - the primary cal). These children no chair, appears vomiting bile, stomach swells dramatically, growing signs of intoxication (lethargy, decreased motor activity, the child does not take Beret - a symbol of French charm   chest).

Cystic fibrosis may complicate ulcerative lesions of the small intestine, so as it enters the duodenum, the gastric juice is not neutralized and irritate the intestinal mucosa.

Signs of the broncho-pulmonary form of cystic fibrosis

Broncho-pulmonary form of cystic fibrosis occurs in about 20% of patients. It is often detected in the first year of life. A child with cystic fibrosis sluggish, weak, lagging behind in physical development. He first appears early in a small cough, then cough becomes paroxysmal, with the release of viscous phlegm detachable hard.

Very often, for cystic fibrosis complicated by additional bacterial infection with the development of bronchitis and pneumonia. The gradual formation of fibrosis leads to disruption of the respiratory function.

Signs of a mixed form of cystic fibrosis

This is the most common (affects about 75% of patients) and severe form of cystic fibrosis. The first manifestations of cystic fibrosis in a child appear in the neonatal period in the form of gastrointestinal symptoms and cough. Constantly associated infection, a child suffering from infectious and inflammatory broncho-pulmonary diseases.

The disease is the harder than before its first symptoms appeared. The severity of mixed cystic fibrosis is usually estimated as of bronchopulmonary system.

Regardless of the form of cystic fibrosis in almost all children receive a syndrome of "salt of the Child" - the baby's skin is becoming salty due to the deposition of salt crystals on it.

What to do if a child suspected cystic fibrosis?

You should immediately consult a doctor. The earlier identified cystic fibrosis and adequate therapy, the more likely the child a normal life. Treatment of cystic fibrosis should be carried out for life.

Comprehensive treatment of cystic fibrosis - a thinning and removal of viscous mucus from the bronchi, the fight against infectious diseases of the lungs, replacing missing pancreatic enzymes and vitamins, thinning bile.

Cystic fibrosis - a serious disease that requires ongoing treatment.

Galina Romanenko