Cystic fibrosis in the child: signs, symptoms, treatment

One of the most common diseases that are inherited is cystic fibrosis. The child develops a pathogenic secret, which leads to disruption of the digestive tract, respiratory organs. It is characteristic that this disease is chronic and is most often manifested if both parents have a special defective gene. If such a site with a mutation is only for one parent, then the children will not inherit the disease. As a rule, cystic fibrosis is diagnosed in the first year of life of the child (or even in the womb of the mother).

History of the disease

Cystic fibrosis in children develops due to disruption 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 there is a failure, the viscous secret stagnates, accumulates. In such an environment, pathogenic microorganisms also multiply, which leads to constant infection. In the future, the organs of the digestive system are affected, the body suffers from insufficient intake of oxygen. For the first time cystic fibrosis in a child was described in 1938 by D. Andersen. Until that time, a large number of children were simply dying from pneumonia and other diseases that were the result of cystic fibrosis. More information about this disease appeared at the end of the twentieth century. Almost every twentieth inhabitant of our planet is the carrier of the mutating gene of cystic fibrosis. This defect has nothing to do with the harmful habits of parents at the time of conception, with the use of medications. Also, its presence is not affected by an unfavorable ecological situation. Both girls and boys are ill.

Forms of cystic fibrosis

This disease can have three main forms.

• The first of these is pulmonary. Occurs about 15-20% of the number of all cases. Characterized by the fact that the bronchi clogged with thick mucus. After a while they are fully clogged up. The secret becomes an excellent medium for the reproduction of bacteria and microbes. Over time, lung tissues become denser and harder. Cysts appear. Further, the lung function only worsens. A person can die from suffocation.
• Cystic fibrosis in a child may have an intestinal form. In this case, the work of the digestive system is disrupted, the food is poorly digested. This condition provokes the development of diabetes mellitus, peptic ulcer, liver cirrhosis, etc. It occurs in 5% of cases.
• The most common form is mixed. It is diagnosed in 75% of patients with this genetic disease.
• Very rarely (about 1%) there is also an 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 manifest in newborns immediately. Cystic fibrosis of the lungs in children has the following symptoms: cough, general lethargy, pale skin. Over time, cough increases, it is accompanied by the release of thick sputum. Gas exchange processes are violated. The tips of the fingers can thicken. Often, children with cystic fibrosis suffer from pneumonia, which occurs in a rather severe form. The tissues of the respiratory organs are affected by purulent inflammatory processes. Pneumonia turns into a chronic condition. Possible proliferation of connective tissue in the lungs. Over time, cases of the appearance of a "pulmonary heart" are not uncommon.

Pulmonary cystic fibrosis symptoms in children and adults are similar: skin of earthy color, the chest acquires a barrel-like shape, deformed fingertips. There is also shortness of breath even in a calm state. Because of the decrease in appetite, the weight of the patient decreases. However, the symptoms of the disease can appear much later. This is a more favorable form for the patient.

Stages of cystic fibrosis of the lungs

There are several stages of the course of the disease.

1. The first stage is characterized by the appearance of a cough, usually dry and without sputum. In some cases, there may be shortness of breath. The peculiarity of this stage is that it can last even a few years (up to 10).
2. The second stage is the appearance of bronchitis in a chronic form, the change in phalanges of the fingers. Appearance of coughing. This degree of the disease also lasts quite a long time - up to 15 years.
3. At the third stage complications develop. The lung tissues become dense, cysts appear. Against this background, the heart suffers. The duration of this period of the disease is 3-5 years.
4. The fourth stage (several months) is characterized by extremely severe damage to the respiratory system, the heart. The outcome is usually lethal.

Signs of intestinal cystic fibrosis

This form of the disease is characterized by a malfunction in the digestive system. Intestinal cystic fibrosis in the child is particularly vivid during the period of introduction of complementary foods. At the same time, poor absorption of fats and proteins is observed (carbohydrates are digested somewhat better). Because of the development of rotting processes in the intestine, toxic compounds form, the stomach is swollen. The number of defecations increases significantly. If diagnosed as "cystic fibrosis" (intestinal form), children may also have prolapse of the rectum. Often patients complain about dry mouth. Receiving dry food is difficult. With further progression of the disease, the body weight decreases.

This disease is also characterized by polyhypovitaminosis, because due to digestive problems, the body lacks vitamins of almost all groups. As a rule, muscles lose their tone, the skin becomes less elastic. One more characteristic signs of cystic fibrosis in children (intestinal type) are pains of a different nature in the abdomen. Over time, there may be peptic ulcer disease, and diabetes mellitus (latent form). The disease affects the work of the kidneys, the liver. If the liver is affected, the stool becomes black. Toxins accumulate in the body and with the blood flow reach the brain. They have a negative effect on nerve cells, develops encephalopathy. Also contributes to the gradual increase in spleen intestinal cystic fibrosis in children. Photos of the pathologically altered intestine (in cross section) are presented below.

Mixed form of the disease

This type of disease is characterized by the presence of signs of both pulmonary form and intestinal. As a rule, newborns are observed frequent and protracted pneumonia, bronchitis. Practically in 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 turns green. There is a dependence of the severity of the course of the disease from the time when the symptomatology first appeared. As a rule, if the first signs are found at the earliest age, then the prognosis is rather unfavorable.

Meconium obstruction

Cystic fibrosis provokes an increase in the viscosity of body secrets, including meconium - the original feces in children. As a result, there is a blockage of the intestine. This form of the disease has been observed since birth, when meconium does not depart. The child becomes restless, often regurgitates (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 the motor activity (or even stop it at all). The reason for this condition is the lack of trypsin. Meconium obstruction is quite dangerous and requires surgical intervention.

Diagnosis of the disease

Diagnosis of cystic fibrosis in children includes examination for the presence of hereditary and congenital pathologies. Blood, urine and excreted sputum are also analyzed. There is also a coprogram. It allows to determine the presence of fat inclusions in the feces of a child. Respiratory organs (radiography, bronchography, bronchoscopy) are also studied. Spirometry is also necessary, since it allows us to evaluate the functional state of the lungs. If suspected of cystic fibrosis (symptoms in children may not manifest) conduct genetic research. They help to establish the presence of mutations of the gene, which is responsible for the secretory activity of the body. Newborns are neonatal screening (the concentration of trypsin in the dried blood spot is being studied). Quite informative is the sweat test. If ions of sodium and chlorine are detected in the sweat in an increased amount, then it is more likely to be said about the presence of this disease. If a woman with a family with a diagnosis of cystic fibrosis expects a child, then doctors recommend that amniotic fluid be examined for a period of 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. 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", "Pancitrat", "Festal", etc.). It is worth noting that such drugs must be taken for life. The fact that the treatment gives the result will be indicated by the normalization of the stool, the lack of weight loss and even its increase. The pain in the abdomen disappears, and the feces do not show fat inclusions.

With the pulmonary form of the disease, drugs are needed that will help to dilute sputum and restore the functionality of the bronchi (Mukosolvin, Mukaltin). It is very important in the treatment of pulmonary cystic fibrosis not to allow the development of infectious processes in the lungs. A good effect is given by special breathing exercises. It must be done regularly. Antibiotics may also be prescribed for treatment. To forget about the disease for a considerable time helps such a radical method, like a lung transplant. However, it has its drawbacks: the risk of rejection, the taking of drugs that depress immunity. In addition, the patient should be in good enough physical condition. Most such transplants are performed abroad.

Recommendations of specialists for patients with cystic fibrosis

Doctors strongly recommend that patients with this diagnosis should be vaccinated against pertussis and similar diseases in a timely manner. It is very important to exclude potential allergens: animal hair, pillows and blankets from the feather of a bird. Passive smoking is also strictly prohibited. A similar diagnosis presupposes a sanatorium treatment for children. If the severity of the disease is not critical, the child attends educational institutions, sports sections, leads a fairly active lifestyle. Treatment of cystic fibrosis in children under the age of one assumes the use of special mixtures (Dietta Extra, Dietta Plus). In addition, it is necessary to increase one-time portion by a factor of 1.5. In addition, a small amount of salt is introduced into the baby's diet (this is extremely necessary in the summer).

The menu of the patient deserves special attention. It should be rich in fats (cream, butter, meat), as the absorption of nutrients is impaired. Drinking is also necessary abundant. It is worth remembering that taking enzyme preparations is required every day. In addition to the main treatment can be used and folk therapy. Easier phlegm withdrawal such herbs as marshmallows, mother-and-stepmother. A good effect on the digestive system is provided by a dandelion, elecampane. Use and essential oils for inhalations (lavender, basil, hyssop). In addition, fortifying foods, such as honey, are also useful.

Forecasts

Unfortunately, the life expectancy with this diagnosis is not very high. On average, patients live 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 in the early manifestations of cystic fibrosis (in infants). But there is a case when a patient with a similar disease has lived more than 70 years. This difference in life expectancy in Russia and other countries is due to the financial situation. Abroad, patients receive lifelong state support. Thanks to this, they can lead a normal lifestyle, learn, create families and give birth to children. Russia, on the other hand, can not adequately provide patients with the necessary medicines (and this includes enzyme preparations, special antibiotics, and mucolytics). Only a limited number of children receive free medical care and the necessary medications. Patients are on special account all their lives. To exclude the appearance of such a disease, it is necessary to consult a geneticist at the planning stage of pregnancy.

Psychological tips for parents

Many publications are aimed at supporting parents whose child is suffering from cystic fibrosis. First of all, do not panic. It is necessary to get as much information about the disease as possible in order to effectively help the child overcome its consequences. It's important to remind him regularly of your love.

The disease significantly affects not only the physical state, but also to some extent the emotional. Therefore, difficulties can not be avoided (however, they are present in the education of healthy children). Some manipulations can be entrusted to the smallest patient. Specialists say that at the same time children not only study their illness, but also, taking care of themselves, they feel much better.

To parents do not feel lonely in the fight against cystic fibrosis, you need to communicate with families who have encountered a similar problem. This can be done on special Internet forums. There are a lot of funds where you can apply for psychological as well as financial help. It is important to remember that such a diagnosis is not a verdict. Many well-known people suffered from this genetic disease, but this did not prevent them from succeeding in life. Singer Gregory Lemarshal, comic actor Bob Flanagan (lived to 43 years) are just some examples of how one can live and develop with such a diagnosis. In addition, medicine does not stand still: the United States is conducting global research on gene therapy for cystic fibrosis. If you can not cope with your emotions on your own, you can always seek help from a psychologist.