Cystic fibrosis is a severe hereditary disease that affects all the systems of the human body that produce mucus-respiratory, digestive, sexual, sweat glands. The disease is very common, but until recently, widespread attention to its treatment has not been attracted. Cystic fibrosis patients should receive a correctly selected medication during their entire life, undergo regular examinations and be treated permanently during periods of exacerbations.
Cause and forms of cystic fibrosis
The cause of the disease is a mutation of the gene cystic fibrosis. The gene was discovered only thirty years ago. The mutation of this gene leads to the fact that the secret secreted by the glands becomes very dense. Thickened secret stagnates in the glands and tissues, it develops pathological microorganisms - most often Pseudomonas aeruginosa, Staphylococcus aureus, hemophilic rod. As a result, chronic inflammation develops.
Cystic fibrosis occurs in three forms:
- pulmonary;
- intestinal;
- mixed.
Symptoms of cystic fibrosis in newborns
- Intestinal obstruction (mekonial ileus) - in the small intestine the absorption of water, sodium and chlorine is disturbed, because of which it is clogged with meconium. The belly swells in the child, it tears with bile, the skin becomes dry and pale, the vascular pattern appears on the abdomen, the child becomes sluggish and inactive, the symptoms of self-poisoning are manifested by the calves
- Prolonged jaundice - manifested in half of the cases of meconial ileus, but also serves as an independent sign of the disease. It arises because the bile becomes very dense and poorly flows out of the gallbladder.
- The child deposits salt crystals on the skin of the face and armpits, the skin becomes salty taste.
Symptoms of cystic fibrosis in infants
Most often, cystic fibrosis manifests itself when an infant is transferred to mixed feeding or injected with complementary foods:
1. The chair becomes thick, fat, plentiful and offensive.
2. The liver is enlarged.
3. There may be a prolapse of the rectum.
4. The child lags behind in physical development and develops symptoms of dystrophy:
- the skin becomes dry and earthy;
- expands and deforms the thorax;
- the abdomen becomes large and swollen;
- The arms and legs become thin with phalanxes of fingers in the form of "drumsticks."
5. In a nursing baby begins a prolonged not passing dry cough. Dense mucus stagnates in the bronchi and interferes with normal breathing. In the stagnant mucus, the bacteria multiply actively, because of which there is a purulent inflammation.
Children with cystic fibrosis should receive the right treatment. The complex of therapeutic measures includes:
- Antibacterial therapy - to combat infection in the respiratory system;
- mucolytic therapy - for liquefaction of sputum;
- kinesitherapy - special breathing exercises;
- hepatoprotectors - for liquefaction of bile;
- Vitamin therapy - to compensate for loss of vitamins and stool.
Screening of newborns for cystic fibrosis
Cystic fibrosis can be diagnosed as a result of clinical and laboratory examinations of the patient. In order for the disease to be detected as early as possible, cystic fibrosis is included in the screening program for newborns for congenital and hereditary diseases.
For screening the baby still in the hospital will take a sample of blood (most often from the heel) by the "dry drop" method. This is done on day 4 in children born on time or on day 7 in premature babies. A sample of blood is applied to a test strip, which is then subjected to a study in the laboratory. If there is a suspicion of cystic fibrosis, parents are urgently informed about the need for additional examination.