One of the most common inherited diseases is cystic fibrosis. The child develops a pathogenic secret, which leads to disruption of the digestive tract, respiratory system. It is characteristic that this disease is chronic and most often manifests itself if both parents have a special defective gene. If such a site with a mutation is only in one parent, then the kids will not inherit the disease. As a rule, cystic fibrosis is diagnosed in the first year of a child's life (or even in the womb).
Medical history
Cystic fibrosis in children develops due to 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. Thanks to this, their surface is moistened, and when separated, the mucus additionally cleans it. But if a failure occurs, then the viscous secret stagnates, accumulates. In such an environment, pathogenic microorganisms also multiply, which leads to constant infection. In the future, the digestive system is affected, the body suffers from insufficient oxygen supply. Cystic fibrosis in a child was first described in 1938 by D. Andersen. Until this 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 at the end of the twentieth century. Almost every twentieth inhabitant of our planet is a carrier of the mutating cystic fibrosis gene. This defect is in no way associated with the harmful habits of parents at the time of conception, with the use of medications. Also, its presence is not affected by adverse environmental conditions. Both girls and boys are equally ill.
Forms of Cystic Fibrosis
This disease can have three main forms.
- The first of these 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 germs. Over time, the lung tissue condenses, becomes hard. Cysts appear. Further, lung function only worsens. A person may die by suffocation.
- Cystic fibrosis in a child can also have an intestinal form. In this case, the digestive system is disturbed, 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.
- An atypical form is very rare (about 1%).
Pulmonary cystic fibrosis in children
This form of the disease is often called respiratory. As a rule, signs of the disease appear in newborns immediately. The symptoms of pulmonary cystic fibrosis in children are: cough, general lethargy, pale skin. Over time, the cough intensifies, it is accompanied by the release of thick sputum. Disrupted gas exchange processes. The tips of the fingers may thicken. Often children with cystic fibrosis also suffer from pneumonia, which occurs in a rather severe form. Respiratory tissues are affected by purulent inflammatory processes. Pneumonia becomes chronic. 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: the skin is earthy in color, the chest becomes barrel-shaped, and the fingertips are deformed. Dyspnea also appears, even in a calm state. Due to a decrease in appetite, the weight of the patient decreases. However, symptoms of the disease can appear much later. This is a more favorable form for the patient.
Stages of pulmonary cystic fibrosis
There are several stages of the course of this disease.
- The first stage is characterized by the appearance of a cough, usually dry and without sputum. In some cases, shortness of breath may occur. A feature of this stage is that it can last even several years (up to 10).
- The second stage is the appearance of chronic bronchitis, a change in the phalanges of the fingers. Discharges appear when coughing. This degree of the disease also lasts quite a long time - up to 15 years.
- In the third stage, complications develop. Lung tissue is condensed, cysts appear. Against this background, the heart suffers. The duration of this period of the disease 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 in the digestive system. Intestinal cystic fibrosis in a child manifests itself particularly clearly during the period of feeding. At the same time, there is poor absorption of fats and proteins (carbohydrates are absorbed slightly better). Due to the development of rotting processes, toxic compounds form in the intestines, and the stomach swells. Significantly increases the number of bowel movements. If diagnosed with cystic fibrosis (intestinal form), rectal prolapse may also occur in children . Patients often complain of dry mouth. Difficulty in taking dry food. With further progression of the disease, body weight decreases.
This disease is also characterized by polyhypovitaminosis, since due to digestive problems the body is deficient in 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, peptic ulcer and diabetes mellitus (latent form) can occur. The disease 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 with blood flow. They have a negative effect on nerve cells, encephalopathy develops. Also contributes to a gradual increase in the spleen intestinal cystic fibrosis in children. A photo of a pathologically altered intestine (in cross section) is presented below.
Mixed form of the disease
This type of disease is characterized by the presence of signs of both a pulmonary form and an intestinal one. As a rule, frequent and prolonged pneumonia and bronchitis are observed in newborns. In almost all cases, cough is also present. 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 disease on the time when symptoms first appeared. As a rule, if the first signs are detected at a very young age, then the prognosis is rather unfavorable.
Meconium obstruction
Cystic fibrosis provokes an increase in the viscosity of body secrets, including meconium, the original stool in children. As a result of this, an obstruction of the intestine occurs. This form of the disease is observed from birth, when meconium does not depart. The child becomes restless, often spits up (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 completely stops it). The reason for this condition is the absence 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. A blood, urine and excreted sputum test is also performed. A coprogram is also conducted. It allows you to determine the presence of fatty inclusions in the feces of the child. Respiratory organs are also examined (radiography, bronchography, bronchoscopy). Spirometry is also necessary, since it allows you to evaluate the functional state of the lungs. If cystic fibrosis is suspected (symptoms in children may not appear), genetic studies are performed. They help to establish the presence of mutations in the gene, which is responsible for the secretory activity of the body. Neonatal screening is performed for newborns (the trypsin concentration in the dried blood stain is examined). The sweat test is also quite informative. If sodium, chlorine ions are detected 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 with a diagnosis of cystic fibrosis is expecting a baby, then doctors recommend examining the amniotic fluid for a period of about 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 treatment gives a result will be indicated by the normalization of the stool, the absence of weight loss and even its growth. The pain in the abdomen disappears, and the inclusion of fat is not detected in the feces.
With the pulmonary form of the disease, medicines are needed that will help dilute sputum and restore the functionality of the bronchi (Mukosolvin, Mukaltin). It is very important in the treatment of pulmonary cystic fibrosis to prevent the development of infectious processes in the lungs. A good effect is given by special breathing exercises. It must be carried out regularly. Antibiotics may also be prescribed for treatment. A radical method such as lung transplantation helps to forget about the disease for a considerable time . However, it has its drawbacks: the risk of rejection, taking drugs that inhibit the immune system. In addition, the patient must be in a fairly good physical condition. Most of these transplants are performed abroad.
Recommendations of specialists for patients with cystic fibrosis
Doctors strongly recommend that patients with this diagnosis be promptly vaccinated against whooping cough and similar diseases. It is very important to exclude potential allergens: animal hair, pillows and blankets from bird feathers. Passive smoking is also strictly prohibited. A similar diagnosis involves the spa treatment of children. If the severity of the disease is not critical, then the child attends educational institutions, sports sections, 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 a single serving by 1.5 times. Also, a small amount of salt is also added to the baby’s diet (this is extremely necessary in the summer).
Of particular note is the patient menu. It should be rich in fats (cream, butter, meat), since the absorption of nutrients is impaired. Drinking also needs plenty. It is worth remembering that taking enzyme preparations is required every day. In addition to the main treatment, folk remedies can also be used. Such herbs as marshmallow, coltsfoot facilitate the discharge of sputum. A good effect on the digestive system is exerted by dandelion, elecampane. Essential oils for inhalation are also used (lavender, basil, hyssop). In addition, general strengthening products, such as honey, are useful.
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 and 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 the case is known when a patient with a similar disease has lived for more than 70 years. This difference in life expectancy in Russia and other countries is due to the financial situation. Abroad, patients receive lifelong support from the state. Thanks to this, they can lead a normal life, study, create families and give birth to children. Russia, however, cannot properly provide patients with the necessary medicines (and these are enzyme preparations, and special antibiotics, and mucolytics). Only a limited number of children receive free medical care and necessary medicines. Patients stay on special records all their lives. To exclude the appearance of such a disease, a consultation with a geneticist is necessary even 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, do not 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 on the emotional. Therefore, difficulties cannot be avoided (however, they are also present in the upbringing of healthy children). Some manipulations can be entrusted to the smallest patient. Experts say that in this case, children not only study their illness, but also, taking care of themselves, feel much better.
To prevent parents from feeling lonely in the fight against cystic fibrosis, communication with families who are faced with a similar problem is necessary. This can be done on special online forums. There are many funds where you can turn for psychological and financial help. 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 succeeding in life. Singer Gregory Lemarshal, comic actor Bob Flanagan (survived to 43 years) - these are just some examples of how you can live and develop with such a diagnosis. In addition, medicine does not stand still: in the United States conducted global research on the gene therapy of cystic fibrosis. If it’s hard to cope with your own emotions, you can always turn to a psychologist for help.