it is a hereditary disease in which the patient has disruption of the exocrine glands (this work gastrointestinal tract, and respiratory system). Feature glands of external secretion is the release of substances into the environment or in the body cavity, unlike endocrine glands, the substances which go into the blood. The genetic problem (the cause of cystic fibrosis) that can cause disease, leads to impaired transport of sodium and chloride to the cells, which in turn leads to viscous secretions from glands of external secretion, and blockage of the ducts. This leads to infection and inflammation of these ducts.
Disease cystic fibrosis is one of the most common among genetic diseases. It affects the kidneys, lungs, pancreas, sweat glands, gastrointestinal tract as a whole. This disease often leads to life-shortening. But with timely and adequate treatment a person can live up to 40 years or more.
To exclude disease in infants and children up to 1 year screening (routine screening of all children). One of the first symptoms of cystic fibrosis in children is excessively salty sweat due to the increased level of sodium and chloride in the secretions. Human skin is salty.
Further, the thick mucus can form in the upper Airways, particularly the bronchi. This leads to constant prolonged cough (one of the signs of cystic fibrosis), which may be accompanied by purulent secretions, loss of sleep, vomiting, severe shortness of breath. Serious symptom is not passing or frequently recurring lung disease. Also in patients with cystic fibrosis may be observed polyposis and sinusitis. Polyposis is a condition in which the nose appear benign polyps. With further development of cystic fibrosis will appear blueness of the skin, the chest becomes barrel-shaped, retracted intercostal spaces.
When the thick mucus begins to clog the ducts of the pancreas, decreases the absorption of nutrients in the gastrointestinal tract. This leads to the following symptoms
- frequent stools oily consistency
- constipation, bloating, pain in the abdominal area
- rectal prolapse, partial rectal prolapse
- slow weight gain and growth if normal nutrition.
Cystic fibrosis is an autosomal recessive disease, that is, if the parents have the defective gene, but they are not sick, the illness in a child can happen in 25% of cases. This mutation occurs on chromosome 7 and encodes a protein that affects the transport of sodium and chloride by the cells of the body. This protein is called transmembrane conductance regulator cystic fibrosis, abbreviated as MVTR. When disturbed the development of MVTR, decreases the formation of chlorides, which leads to increased absorption of sodium through the mucous tissue. Because of this, the mucus becomes thick and viscous and thereby clog the ducts of the external glands.
In the upper respiratory tract clogged bronchial tubes, this can join an infection and as a result of pneumonia. Very often in patients with cystic fibrosis there is chronic obstructive pulmonary disease or COPD. This disease leads to irreversible changes in the respiratory system of man. In patients with cystic fibrosis is COPD, which leads to deterioration in the overall situation.
In the result of blockage of ducts in the pancreas, reduced, and greatly reduced ingress of digestive enzymes in the stomach and intestines, leading to incomplete processing of food in the gastrointestinal tract. Typically, these enzymes help to process fats and other nutrients and digest all the useful minerals. Because of this disorder in patients there is often a change stool. It is oily, abundant and frequent. Marked delay in growth and weight, General depression, decreased muscle mass.
Changes in the intestines resulting in greater absorption of water. Cystic fibrosis in children, especially in infants, causing frequent constipation, bloating, pain and vomiting. Such symptoms occur in older age.
Patients with cystic fibrosis is very frequently barren, or have big problems with conception. Men can get clogged prostate gland, which leads to infertility.
Complications resulting from cystic fibrosis
- polyps in the sinuses and frequent infectious diseases of the lung
- saccular bronchiectasis is incurable extensions to the walls of the bronchi, which arise due to inflammatory destruction of bronchial tissue
- pneumothorax accumulation of air in chest (requiring immediate treatment)
- respiratory failure is a condition of the respiratory system of the body, when light does not fall a sufficient amount of air, it leads to a decrease in the level of oxygen in the blood
- diabetes is incurable disease where the body’s lack of insulin leads to increased sugar levels in the blood. This occurs because of disorders in the pancreas that produces insulin
- inflammation of the gallbladder (jaundice) is due to the blockage of the bile ducts. Also can form stones in the gallbladder. In severe forms of cystic fibrosis in adults liver cirrhosis (destruction of healthy liver tissue and replacing it on the scar)
- the prolapsed part of the rectum frequently occurs in children. This comes from a strong surge that a person is experiencing constipation
- osteoporosis is a disease characterized by thinning of bone tissue. When disturbed absorption of nutrients in the gut, this leads to a shortage of essential vitamins and minerals in the body, including vitamin D, which is involved in bone formation.
First and foremost, conduct a special analysis for cystic fibrosis newborn screening. It is possible to identify the child’s defective gene. If you suspect that cystic fibrosis is carried out a further study of sweat and genetic testing.
Also use the following methods of laboratory research
- immunoreactive trypsin a pancreatic enzyme. When analyzing the blood of newborn conduct measurement of level of this enzyme in patients with cystic fibrosis it is promoted
- sweat test, the patient stimulate the production of sweat, and then analyze its structure by measuring the levels of chlorine. In cystic fibrosis it will be elevated. The result is considered reliable on the next day after birth
- scatological of elastase is another enzyme of the pancreas, which is almost not destroyed during digestion, it helps to analyze the correct operation of the pancreas. The level of this enzyme measured in the stool of the child. If the level of elastase is reduced, there is the threat of an illness cystic fibrosis
- coprogram (General analysis of feces) check the number of unsplit fats
- genetic testing search for the defective gene in saliva and blood. As a rule, appointed by the suspicion of cystic fibrosis, with an increased level of chlorine on the skin.
When the diagnosis is made, conduct other laboratory tests
- sputum detection of red blood cells in the sputum may indicate the development of bronchiectasis
- sputum culture allows you to grow bacteria in favorable conditions, and details of their study, the most accurate diagnosis and assigning an effective treatment
- the analysis of the level of bilirubin is increasing it is due to obstruction of the bile ducts
- aspartate aminotransferase and alanine aminotransferase are enzymes contained in the liver, which increases tissue damage
- amylase and lipase are pancreatic enzymes, the level of which is tested using a blood test and if it is elevated, it indicates a blockage of the ducts, and possibly on the development of pancreatitis.
During treatment of cystic fibrosis performed a chest x-ray, which can show the first signs of the disease, such as thickening of the walls of the bronchial mucosa and sites of inflammation. Appoint experts to study the functions of the external breathing, the lung capacity, the volume of inhaled and exhaled air and others. The decline in these parameters indicates the progression of the disease.
Patients undergo ultrasound and x-ray examination of the abdominal cavity, which helps to identify the earliest signs of intestinal obstruction. Another effective method of investigation CT scan and MRI (magnetic resonance imaging), helps to determine the degree of spread of the disease all the internal organs.
Completely cured of cystic fibrosis cannot. Scientists haven’t invented a medication that can correct a defective gene and save people from all the consequences of the disease. Therefore, all treatment is aimed at relief of symptoms and preventing serious complications.
Since the main blow when the disease is in the respiratory system, experts prescribe drugs that reduce the viscosity of the phlegm and mucus. For timely identification of phlegm and prevent stagnation, apply mechanical methods of tapping the back and front walls of the chest when the patient lies. This procedure helps in cleaning out the lungs and improve breathing of the patient.
Patients prescribed the consumption of large quantities of water to reduce the viscosity of mucus and phlegm.
Infectious diseases that often accompany cystic fibrosis, doctors prescribe antibiotics.
In advanced forms of organ irreversible, requires surgery, which usually involves removing the affected part of the body or in General. Cystic fibrosis of the lungs can lead to transplantation.
To improve the work of the pancreas and intestines prescribe enzyme supplements and fat-soluble vitamins.
A very important psychological assistance and family support of patients. And whatever form of cystic fibrosis did not appear in the patient, it is important to begin treatment and lead a healthy lifestyle.