Cystic fibrosis in a child: signs, symptoms, treatment

One of the most common diseases that are transmitted by inheritance is cystic fibrosis. A child of a pathogenic secret, which leads to disruption of the digestive tract, respiratory. Characteristically, the disease is chronic and occurs most often if both parents have the particular defective gene. If such a plot with a mutation from only one parent, the kids, the disease will not inherit. Usually cystic fibrosis is diagnosed in the first year of a child's life (or even in the womb).

History of disease

Cystic fibrosis in children develops as a result of disruption of the structure of the 7th chromosome (her shoulder). The mucus in the body becomes more viscous. It is known that the secret of this type covered almost all the internal organs. Because of this moistened surface thereof, and separated, mucus further cleans it. But if a failure occurs, the viscous secret stagnates and accumulates. In this environment, multiply and pathogenic microorganisms, which leads to a continuous infection. Further affects the digestive system, the body suffers from the lack of oxygen. First cystic fibrosis in a child was described in 1938 by D. Andersen. Until that time, a large number of children died from pneumonia and other diseases that were a result of cystic fibrosis. More information about the disease appeared in the late twentieth century. Almost every twentieth inhabitant of the planet - carrier of the mutated gene for cystic fibrosis. This defect is not related to bad habits of the parents during conception, with the medication. Also, its presence has no effect unfavorable environmental conditions. Suffer equally, both girls and boys.

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Forms of cystic fibrosis

The disease can take three basic forms.

• The First of these – pulmonary. Occurs in approximately 15-20% of all cases. Characterized by the fact that the bronchi become clogged with mucus. After some time they are able to completely clogged. The secret becomes an excellent breeding ground for bacteria and germs. Over time, lung tissue harden and become solid. Appear cysts. Further, the work light is only getting worse. A person can die from suffocation.
• Cystic fibrosis, the child may have intestinal form. This disturbed the work of the organs of the digestive system, food is poorly digested. This condition triggers the development of diabetes, peptic ulcer, liver cirrhosis, etc. is Found in 5% of cases.
• The Most common form – combined. It is diagnosed in 75% of patients according to genetic disease.
• Very rarely (about 1%) found atypical form.

Cystic fibrosis of the lungs in children

This form of the disease is often called the respiratory. Typically, the symptoms appear in newborns immediately. Cystic fibrosis of the lungs in children, the symptoms has the following: cough, General lethargy, pale skin. Over time, increased cough, he is accompanied by the release of thick mucus. Violated gas exchange processes. May thicken the tips of the fingers. Often children with cystic fibrosis suffering from pneumonia, which is pretty severe. Tissue of the respiratory system affected purulent inflammation. Pneumonia has become chronic. Perhaps the growth of connective tissue in the lungs. Over time, there are cases of the emergence of “pulmonary heart”.

Lung cystic fibrosis symptoms in children and adults is similar: earthy skin color, the thorax becomes barrel shape, deformed fingertips. Also experience shortness of breath even at rest. Due to the reduction in appetite is reduced and weight of the patient. However, symptoms may appear much later. It – a more favorable form for the patient.

Stages of cystic fibrosis lung

There are several stages of the course of the disease.

1. The First stage is characterized by the appearance of cough, usually dry and no phlegm. In some cases, there may be and shortness of breath. A feature of this stage is that it can last even several years (up to 10).
2. The Second phase – the occurrence of bronchitis in the chronic form, a change of the phalanges. Appear discharge when coughing. The degree of the illness also lasts a long time – up to 15 years.
3. At the third stage of developing complications. Condensed lung tissue, cysts appear. Against this background, suffer and heart. The duration of this period of the disease – 3-5 years.
4. The Fourth stage (several months) is characterized by severe lesion of the respiratory organs, heart. The outcome is usually fatal.

Signs of intestinal cystic fibrosis

This form of the disease characterized by a malfunction of the digestive system. Intestinal cystic fibrosis in a child manifests itself especially clearly in the period of introduction of complementary foods. There is poor absorption of fats, proteins (carbohydrates are digested slightly better). Due to the decay processes in the intestine to form toxic compounds, swells the stomach. Greatly increased number of bowel movements. If diagnosed with "cystic fibrosis" (intestinal form), in children there may also be rectal prolapse. Often patients complain about dry mouth. Otradnaya reception dry food. With further progression of the disease reduced body mass.

The disease is also characterized by polyhypovitaminosis as a result of problems with digestion, the body lacks vitamins of almost all groups. As a rule, the muscles lose their tone, the skin becomes less elastic. Another characteristic of cystic fibrosis in children (intestinal type) – pain of different origin in the abdomen. Over time may occur and peptic ulcer disease, and diabetes (latent form). The disease affects the kidneys and liver. If the liver is affected, the stool becomes black. The toxins accumulate in the body and through the blood reach the brain. They have a negative impact on nerve cells, develops encephalopathy. Also contributes to the gradual enlargement of the spleen intestinal cystic fibrosis in children. Photo of the diseased intestine (in cross section) are shown below.

A Mixed form of the disease

This type of disease is characterized by the presence of symptoms as pulmonary and intestinal. Typically, newborns observe frequent and protracted pneumonia, bronchitis. In almost all cases, there is and coughing. Besides mixed cystic fibrosis in children is accompanied by bloating, stool is usually liquid, its color becomes green. There is a dependency of severity of the disease from the time when the first symptoms. As a rule, if the first signs are detected at a very early age, the prognosis is quite unfavorable.

Makarieva obstruction

Cystic fibrosis causes an increase of viscosity of the secrets of the body, including meconium-original feces in children. This results in obstruction of the bowel. This form of the disease is observed from birth when meconium does not depart. The child becomes restless, often spits up (even with admixtures of bile). Then comes the bloating, the skin becomes pale. The further course of disease contributes to the fact that a newborn significantly reduces motor activity (if not it terminates). The cause of this condition is the absence of trypsin. Makarieva obstruction is quite dangerous and requires surgical intervention.

Diagnosis

Diagnosis of cystic fibrosis in children includes the screening for hereditary and congenital pathologies. Also the analysis of blood, urine and sputum allocated. Is and coprogram. It allows you to determine the presence of fatty inclusions in the feces of the child. Researched and respiratory (x-ray, bronchography, bronchoscopy). Necessary and spirometry, as it allows to assess the functional status of the lungs. If you suspect that cystic fibrosis (the symptoms in children may not be involved) conduct genetic studies. They help to establish the presence of mutations in the gene that is responsible for the secretory activity of the organism. Conduct newborn neonatal screening (studies the concentration of trypsin in dried blood spot). Quite informative is the sweat test. If the identified sweat sodium ions, chlorine in large amounts, then with high probability we can speak about the presence of this disease. If a woman, in whose family there were people with a diagnosis of "cystic fibrosis", expecting a baby, the doctors recommended to examine the amniotic fluid for a period of about 18-20 weeks.

Therapy for cystic fibrosis

It is Worth noting that to completely get rid of this disease impossible. However, therapy can significantly improve quality of life and its duration. Previously, many patients with this diagnosis die before the age of 20 years. Now, however, 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 appointed and the complex vitamins...