OverviewThe name of the disease comes from the Latin words mucus "slime" and viscidus "tough". Cystic fibrosis - a systemic hereditary disease that affects all the organs that secrete mucus: bronchopulmonary system, pancreas, liver, sweat glands, salivary glands, intestinal cancer, sex glands. Cystic fibrosis is one of the most common hereditary diseases, but for many years the treatment of children with this diagnosis was not given sufficient attention. Only at the end of the twentieth century in Russia were established Russian and regional centers to fight cystic fibrosis. The basis of therapeutic care to patients is well-matched lifelong drug therapy, regular check-ups and hospital treatment during exacerbations.
The causes of the diseaseThe cause of pathological changes in cystic fibrosis is a mutation of cystic fibrosis transmembrane regulator. This protein regulates the transport of electrolytes (primarily chlorine) through the membrane of cells lining the ducts of exocrine glands. The mutation leads to disruption of the structure and function of the synthesized protein, resulting in a secret, secreted by these glands becomes too thick and viscous.
Symptoms of cystic fibrosisThe following basic form of cystic fibrosis:
- Mixed (pulmonary-intestinal, 75-80%);
- Bronchopulmonary (15-20%);
- Intestinal (5%).
In bronchopulmonary form cystic fibrosis has 1-2 year life of the child showing signs of respiratory tract lesions. In small and medium-sized bronchi accumulate a large amount of viscous mucus, decreases its separation.
Patients with obsessive worries, painful, paroxysmal cough with phlegm difficult to separate. When sharpening process and accession of bacterial infection develop recurrent bronchitis, pneumonia with protracted course, there is a rise in temperature to 38-39 degrees, cough and shortness of breath worse.
The clinical picture of the intestinal form of cystic fibrosis by the lack of enzymatic activity of the gastrointestinal tract, which is particularly evident after the transfer of children to artificial feeding or solid foods. Splitting and reduced absorption of nutrients in the intestine is dominated by putrefactive processes, accompanied by the accumulation of gases. Very frequent stools, daily volume of stool 28 times exceed the age limit. Bloating causes cramping abdominal pain.
Appetite in the first months of retained or even increased, but due to violations of the digestive processes in patients with rapidly growing malnutrition, polyhypovitaminosis.
In 10-15% of patients with cystic fibrosis seen in the first days of life in the form of intestinal (mekonievoy) obstruction. In this case your child has vomiting of bile, no stool, abdominal distension. After 12 days the state of the newborn getting worse: the skin dry and pale, the skin of the abdomen there is a pronounced vascular pattern, anxiety gives way to lethargy and weakness, picking up the symptoms of intoxication.
Regardless of the form of cystic fibrosis in many children, there is the syndrome of "salt of the child", resulting in the deposition of salt crystals on the face and armpits, the skin of the child salty "taste".
Diagnosis of cystic fibrosisIf you suspect a cystic fibrosis district pediatrician will refer you to the Russian or the regional center to combat cystic fibrosis.
For diagnosis of the disease must have four basic criteria: chronic bronchopulmonary process and bowel syndrome, cystic fibrosis cases in a family, a positive sweat test results. Sweat test is based on the determination of chloride concentration of sweat. A child with cystic fibrosis, the rate is usually higher than normal. However, be aware that a negative result can not rule out the disease by 100%.
If your child is diagnosed, the doctor will refer your family for genetic analysis. It is important not only to confirm the diagnosis, but also for prenatal diagnosis in subsequent pregnancies.
What you can do?If you notice your child has any of these symptoms, try as soon as possible to consult a pediatrician. The earlier the diagnosis, and therapy is initiated literate, the easier it will be the condition of your baby.
A very important role in the treatment of children with CF parents play. On the shoulders of mothers and fathers bear a great responsibility to care for a sick child. After treatment of the disease for life and requires scrupulous implementation of all recommendations of the physician. Only parents, being a child at any moment, can estimate the change in the state of the baby and the time to seek medical help.
The first signs of incipient deterioration are: lethargy, decreased appetite, fever, increased cough, change the color and quantity of sputum, stool marked disturbances (frequent, bold, unformed, offensive) appearance of abdominal pain. Exacerbation of the disease, usually require hospitalization.
What will help the doctor?Depending on the severity of the treatment can be conducted in a specialized hospital wards, day hospitals or at home.
Treatment of cystic fibrosis is complex and is aimed at thinning and removal of viscous mucus from the bronchi, the fight against infectious diseases of the lungs, the replacement of the missing pancreatic enzymes, multivitamin deficiency correction, dilution of bile. An important place in the treatment of broncho-pulmonary form of cystic fibrosis is kinesitherapy (a special set of exercises and breathing exercises aimed at the removal of phlegm). Exercises should be daily and lifetime.