One of the most common inherited diseases is cystic fibrosis. The child develops a pathogenic secret, which leads to disruption of the digestive tract and respiratory organs. It is characteristic that this disease is chronic and most often manifests itself if both parents have a particular defective gene. If only one parent has such a site with a mutation, then the kids will not inherit the disease. Cystic fibrosis is usually diagnosed in the first year of a child's life (or even while still in the womb).
Case history
Cystic fibrosis in children develops as a result of a violation of the structure of the 7th chromosome (its shoulder). In this case, the mucus in the body becomes more viscous. It is known that almost all internal organs are covered with a secret of this type. Due to this, their surface is moistened, and separating, the mucus further cleans it. But if a failure occurs, then the viscous secret stagnates,accumulates. In such an environment, pathogenic microorganisms also multiply, which leads to permanent infection. In the future, the organs of the digestive system are affected, the body suffers from insufficient oxygen supply. For the first time, cystic fibrosis in a child was described in 1938 by D. Andersen. Until that time, a large number of children simply died from pneumonia and other diseases that were the result of cystic fibrosis. More information about this disease appeared already at the end of the twentieth century. Almost every twentieth inhabitant of our planet is a carrier of a mutating cystic fibrosis gene. This defect is in no way connected with the bad habits of parents during conception, with taking medications. Also, its presence is not affected by adverse environmental conditions. Both girls and boys get sick the same way.
Forms of cystic fibrosis
This disease can have three main forms.
- The first one is pulmonary. It occurs in approximately 15-20% of all cases. It is characterized by the fact that the bronchi are clogged with thick mucus. After a while, they are able to completely clog. The secret becomes an excellent breeding ground for bacteria and microbes. Over time, the tissues of the lung thicken and become hard. Cysts appear. Further, lung function only worsens. A person can die from suffocation.
- Cystic fibrosis in a child can also have an intestinal form. At the same time, the work of the digestive system organs is disrupted, food is poorly digested. This condition leads to the developmentdiabetes, peptic ulcer, liver cirrhosis, etc. Occurs in 5% of cases.
- The most common form is mixed. It is diagnosed in 75% of patients with this genetic disease.
- Very rare (about 1%) and atypical form.
Cystic fibrosis of the lungs in children
This form of the disease is often called respiratory. As a rule, signs of the disease appear in newborns immediately. Cystic fibrosis of the lungs in children has the following symptoms: cough, general lethargy, pale skin. Over time, the cough intensifies, it is accompanied by the release of thick sputum. Gas exchange processes are disturbed. Fingertips may thicken. Often, children with cystic fibrosis also suffer from pneumonia, which is quite severe. Respiratory tissues are affected by purulent inflammatory processes. Pneumonia becomes chronic. Perhaps the proliferation of connective tissue in the lungs. Over time, cases of the appearance of "cor pulmonale" are not uncommon.
Pulmonary cystic fibrosis symptoms in children and adults are similar: the skin is earthy in color, the chest becomes barrel-shaped, the tips of the fingers are deformed. There is also shortness of breath even at rest. Due to a decrease in appetite, the weight of the patient also decreases. However, the symptoms of the disease may appear much later. This is a more favorable form for the patient.
Stages of cystic fibrosis of the lungs
There are several stages in the course of this disease.
- Firststage is characterized by the appearance of a cough, usually dry and without sputum. In some cases, shortness of breath may also be observed. A feature of this stage is that it can even last several years (up to 10).
- The second stage is the appearance of bronchitis in a chronic form, a change in the phalanges of the fingers. There are secretions when coughing. This degree of illness also lasts quite a long time - up to 15 years.
- Complications develop in the third stage. The tissues of the lung are compacted, cysts appear. Against this background, the heart also suffers. The duration of this period of illness is 3-5 years.
- The fourth stage (several months) is characterized by extremely severe damage to the respiratory system, heart. The outcome is usually fatal.
Signs of intestinal cystic fibrosis
This form of the disease is characterized by a malfunction of the digestive system. Intestinal cystic fibrosis in a child is especially pronounced during the introduction of complementary foods. At the same time, poor absorption of fats and proteins is observed (carbohydrates are absorbed somewhat better). Due to the development of decay processes in the intestines, toxic compounds are formed, the stomach swells. Significantly increased the number of bowel movements. If cystic fibrosis (intestinal form) is diagnosed, children may also experience rectal prolapse. Patients often complain of dry mouth. Difficulty eating dry food. With further progression of the disease, body weight decreases.
This disease is also characterized by polyhypovitaminosis, because due to problems with digestion, the body experienceslack of vitamins of almost all groups. As a rule, the muscles lose their tone, the skin becomes less elastic. Another characteristic sign of cystic fibrosis in children (intestinal type) is pain of a different nature in the abdomen. Over time, both peptic ulcer and diabetes mellitus (latent form) can occur. The disease also affects the functioning of the kidneys and liver. If the liver is affected, the stool becomes black. Toxins accumulate in the body and reach the brain through the bloodstream. They have a negative effect on nerve cells, encephalopathy develops. Also contributes to the gradual increase in the spleen intestinal cystic fibrosis in children. A photo of a pathologically altered intestine (in cross section) is presented below.
Mixed disease
This type of disease is characterized by signs of both pulmonary and intestinal forms. As a rule, frequent and prolonged pneumonia, bronchitis are observed in newborns. In almost all cases, there is also a cough. In addition, mixed cystic fibrosis in children is accompanied by bloating, the stool is usually liquid, its color becomes green. There is a dependence of the severity of the course of the disease on the time when the symptoms first appeared. As a rule, if the first signs are detected at a very early age, then the prognosis is rather unfavorable.
Meconium ileus
Cystic fibrosis provokes an increase in the viscosity of body secrets, including meconium - the original feces in children. As a result, it alsointestinal blockage. This form of the disease is observed from birth, when meconium does not depart. The child becomes restless, often burps (even with bile impurities). Then there is bloating, the skin becomes pale. The further course of the disease contributes to the fact that the newborn significantly reduces motor activity (or even stops it altogether). The reason for this condition is the lack of trypsin. Meconium ileus is quite dangerous and requires surgery.
Diagnosis of disease
Diagnosis of cystic fibrosis in children includes examination for the presence of hereditary and congenital pathologies. Blood, urine and sputum are also analyzed. There is also a coprogram. It allows you to determine the presence of fatty inclusions in the stool of a child. The respiratory organs are also examined (radiography, bronchography, bronchoscopy). Spirometry is also necessary, as it allows you to assess the functional state of the lungs. If cystic fibrosis is suspected (children may not show symptoms), genetic testing is done. They help to establish the presence of mutations in the gene that is responsible for the secretory activity of the body. Newborns undergo neonatal screening (the concentration of trypsin in a dried blood spot is examined). The sweat test is also quite informative. If sodium ions, chlorine ions are found in sweat in an increased amount, then with a high probability we can talk about the presence of this disease. If a woman in whose family there were people diagnosed with cystic fibrosis is expecting a baby, then doctors recommendexamine amniotic fluid at approximately 18-20 weeks.
Cystic fibrosis therapy
It is worth noting that it is impossible to completely get rid of this disease. However, therapy can significantly improve both the quality of life and its duration. Previously, many patients with a similar diagnosis died before the age of 20 years. However, now with proper and timely treatment, you can live much longer. The intestinal form requires a special diet. Food should be rich in proteins (fish, eggs). Additionally, a complex of vitamin preparations is prescribed. It is also necessary to take enzymes ("Creon", "Pantsitrat", "Festal", etc.). It is worth noting that such drugs must be taken all your life. The fact that the treatment gives a result will be evidenced by the normalization of the stool, the absence of weight loss and even its gain. Pain in the abdomen disappears, and no fat inclusions are found in the stool.
In the pulmonary form of the disease, drugs are needed that will help thin the sputum and restore the functionality of the bronchi (Mukosolvin, Muk altin). It is very important in the treatment of pulmonary cystic fibrosis to prevent the development of infectious processes in the lungs. Special breathing exercises also give a good effect. It must be carried out regularly. Antibiotics may also be prescribed for treatment. Forgetting about the disease for a significant time helps such a radical method as a lung transplant. However, it has its drawbacks: the risk of rejection, taking drugs that depress the immune system. BesidesThe patient must be in reasonably good physical condition. Most of these transplants are performed abroad.
Special advice for people with cystic fibrosis
Doctors strongly recommend that patients with this diagnosis should be vaccinated against whooping cough and similar diseases in a timely manner. It is very important to exclude potential allergens: animal hair, pillows and blankets from bird feathers. Passive smoking is also strictly prohibited. Such a diagnosis involves sanatorium treatment of children. If the severity of the disease is not critical, then the child attends educational institutions, sports clubs, leads a fairly active lifestyle. Treatment of cystic fibrosis in children under the age of one year involves the use of special mixtures (Dietta Extra, Dietta Plus). In addition, it is necessary to increase the single serving by 1.5 times. Also, a small amount of s alt is added to the baby's diet (this is extremely necessary in summer).
The patient menu deserves special attention. It should be rich in fats (cream, butter, meat), since the absorption of nutrients is impaired. Drinking is also necessary plentiful. It is worth remembering that taking enzyme preparations is required every day. In addition to the main treatment, alternative therapy can also be used. Facilitate the discharge of sputum, herbs such as marshmallow, coltsfoot. Dandelion and elecampane have a good effect on the digestive system. Essential oils are also used for inhalation (lavender, basil, hyssop). In addition, useful and tonicproducts, such as honey.
Forecasts
Unfortunately, life expectancy with this diagnosis is not very high. On average, patients live for about 30 years (in Russia) or up to 40 or more (abroad). However, timely diagnosis and proper treatment significantly improve the patient's condition. The most unfavorable prognosis is with early manifestations of cystic fibrosis (in infants). But there is also a case when a patient with a similar disease lived for more than 70 years. Such a difference in life expectancy in Russia and other countries is due to the financial moment. Abroad, patients receive lifelong state support. Thanks to this, they can lead a normal life, study, create families and give birth to children. Russia, on the other hand, cannot properly provide patients with the necessary medicines (including enzyme preparations, special antibiotics, and mucolytics). Only a limited number of children receive free medical care and essential medicines. Patients stay on a special account all their lives. To exclude the occurrence of such a disease, a consultation with a geneticist is necessary at the stage of pregnancy planning.
Psychological tips for parents
Many publications are aimed at supporting parents whose child suffers from cystic fibrosis. First of all, don't panic. It is necessary to obtain as much information as possible about the disease in order to effectively help the child overcome its consequences. It is important to regularly remind him of your love.
The disease significantly affects not only the physical condition, but also, to some extent, the emotional state. Therefore, difficulties cannot be avoided (however, they are also present in the upbringing of he althy children). Some manipulations can be entrusted to the smallest patient. Experts say that in this case, children not only learn about their illness, but also, taking care of themselves, feel much better.
So that parents do not feel alone in the fight against cystic fibrosis, it is necessary to communicate with families who are faced with a similar problem. This can be done on special Internet forums. There are many funds where you can apply for both psychological and financial assistance. It is important to remember that such a diagnosis is not a sentence. Many famous people suffered from this genetic disease, but this did not prevent them from achieving success in life. Singer Gregory Lemarchal, comic actor Bob Flanagan (lived to 43) are just some examples of how one can live and grow with such a diagnosis. In addition, medicine does not stand still: in the United States, global studies are being conducted on gene therapy for cystic fibrosis. If it’s hard to cope with your emotions on your own, you can always seek help from a psychologist.
