Diagnosis of the disease “cystic fibrosis”
Cystic fibrosis and its diagnosis is very important, as this disease is widely spread in Russia. Cystic fibrosis is a genetic disease, resulting in serious injury to all body systems that can release mucus also suffer bronchial tubes, lungs, salivary and sweat glands, intestines, sex organs, liver and pancreas. Diagnosis of cystic fibrosis the need for early detection of disease.
Causes and symptoms of disease
This disease develops when changes in the gene that is responsible for the regulation of the movement of chlorine through the cell membrane. The mutation affects a protein that synthesizes the body to transport gas molecules. Because of this secret, which was isolated glands becomes viscous and dramatically increases its density. Cystic fibrosis is divided into several types:
- Intestinal-pulmonary type. It affects up to 80% of patients.
- Pulmonary-bronchial form. It affects up to 18% of patients.
- Intestinal cystic fibrosis - affects 2 to 4 % of the patients.
In the second form of the disease symptoms appear in a child already in the first year of life. Accumulates in the bronchi viscous sputum in large quantities, and the baby has difficulty breathing. His cough which is accompanied by painful sensations. Sputum allocated very poorly. During acute disease when infected different types of viruses, develops pneumonia, bronchitis. The body temperature of the patient can reach 39 degrees, shortness of breath.
When intestinal lesions are sharply reduced enzyme activity in the digestive organs. This can occur when you transfer the baby to artificial feeding. At this time in the gut develop the processes of decay, which is accompanied by the accumulation of large amounts of gas. The stomach swells and aches, increases the excretion of feces that exceeds all standards. The first two months, the patient's appetite is preserved, but then is manifested in malnutrition and polyhypovitaminosis.
Children first days of life the intestinal form of the disease caused by the obstruction. Develops vomiting with bile, the stomach swells, there is no chair. After 10-14 days the child's condition deteriorates, the skin gets dry and pale, the abdomen occur the vessels, the baby becomes sluggish, there are signs of intoxication. In any type of cystic fibrosis in children deposited on the face and armpits are the salt crystals. A baby's skin has a salty taste.
Detection of cystic fibrosis - diagnosis of disease
A patient is sent for tests. First, fixed external signs of the disease. Then conducted testing. It is desirable to carry outbefore the pregnancy, during the childbearing and early age. Tests can pass and adult patients. To control the progress of the disease using the following methods of examination of the patient:
- Check the correct functioning of the lungs, tracking the flows of air circulating in these organs.
- The structure of mucus and the presence of bacterial lesions identified in the study of the saliva of the child. Sample is taken with a special instrument.
- Radiograph allows to judge the condition of the lungs.
- Computed tomography helps to detect serious lesions of the organs of respiration, examined the pancreas and sweat glands, and other systems of the body ill.
- A common blood test used to detect the level of glucose in it and shows the correct functioning of the liver.
- To determine how the child metabolizes food, doctors do stool samples. This allows you to judge how well the baby's body accepts the fats, carbohydrates and other nutrients.
- The blood test for acidity and gas used to determine the amount of CO2 and oxygen. This gives you the opportunity to find out the level of performance of the human lung.
Adults and newborns to be tested for the presence of the abnormal gene that can cause cystic fibrosis. This survey consists of several phases:
- For infants screening test. To do this, analyze the blood of the child, identifying the presence of enzymes for digestion in the intestine and the level of immunoreactive trypsinogen. If the second parameter is higher than normal, then the newborn started the development of the disease. But in order to accurately diagnose cystic fibrosis, it is necessary to spend genetic examination.
- This test is done for adults. This survey helps to identify the slightest changes in regulatory genes. This test is done using a biopsy of the amniotic SAC or chorionic villus during pregnancy. Such a study, a woman can have before conception, along with his sexual partner. This is done to determine "the guilty", which carries the mutated genes. If men and women have such a loss of genetic structures, there is a risk that the child will be 50% a carrier of the disease, or it goes the disease is inherited (this happens in 20-25% of cases). If the modified genes have only one parent, then the child will not develop cystic fibrosis, but may become a carrier of the disease.
Forthe passage of genetic testing need to contact your doctor. To identify the symptoms need to be screened together with a sexual partner, or bring the baby. To ensure that people understand the results, you should use the service of genetic counseling.
The chorionic villus sampling and puncture of the amniotic SAC
This test is usually done at an early stage of pregnancy to determine abnormalities in the development of the fetus.
This study carefully carried out, if a woman wants to explore the possibility of having a child with genetic abnormalities at the level of chromosomes or if there is evidence of hereditary genetic disorder.
Chorionic villi found in the placenta. It is a small finger-shaped growths. Their genetics are repeated in the fetus. During the examination, take samples of cellular structures, and examine the composition of their chromosomes. The test allows to detect a variety of abnormalities, particularly down syndrome.
The samples take a curved probe through the cervix of the uterus from the placenta. This can be done by means of thin, long needles that slid through the stomach to the placenta. The procedure is under the control of ultrasound equipment. This test should be done at the end of the 1st trimester in pregnant women (3 months).
Puncture of the bladder of the fetus is done to study the water in the amniotic region. There are cells studying which can diagnose the child. This procedure is done after 14-15 weeks pregnant. The test is carried out using a needle, which is carried out through the abdominal cavity to the uterus. Study take up to 30 milliliters of liquid.
The samples make it possible to determine the sex of the baby to find different lesions of the chromosome apparatus and to identify the chemical components, showing the baby's lung development.
Examination of the nasal cavity to detect cystic fibrosis
This test determines the amount of chlorine and sodium, passing through the mucous membranes of the nose. This procedure is done to confirm the results obtained on the Department of sweat, and genetic studies. In the nasal cavity are inserted the electrodes, and the mucus passes through them. In the forearm of a patient implanted needle which is connected to research equipment. This is a painful procedure, so baby is given a sedative medication. It also helps to relax the muscles of the child. Such study are rare, as it is dangerous and he needs medical condition.
Cystic fibrosis can cause various complications that can affectthe gastrointestinal tract and the respiratory system. In the first case, may develop bowel obstruction, occur rectal prolapse. At the same time developing liver failure, increase the size of the spleen and liver. Perhaps the development of diabetes and the development of bone disease.
With the defeat of the respiratory system in the nose develop polyps, it develops a pneumothorax, the possible collapse of the lung. People often spit blood. Occurs hypertrophy of the right side of the cardiac lobe, which can lead to paralysis of cardiac muscle. Appears inflammation of the respiratory tract and affects lung tissue and bronchi. Possible fungal infection of the respiratory system of the baby.