Diagnosis of cystic fibrosis in children

Cystic fibrosis is a genetic disease that can cause death. The development of the chronic process is based on the pathological change in the properties of the gene, which controls the absorption of salt by the body. The processes of mutation lead to the fact that mucus, tears, sweat become so thick that they simply can not normally be evacuated through the ducts.

In the body cells, too much salt starts to flow, but not enough water. Stagnant phenomena are fraught with the emergence of inflammatory and infectious reactions. The disease is characterized by the ability to extensive lesions of the glands of external secretion.

Cystic fibrosis is a hereditary disease that occurs in a child only if both parents are carriers of an abnormal gene, while they themselves may not have cystic fibrosis. But it is not necessary that the child is born with cystic fibrosis, the disease manifests itself only in every fourth child.

If an anomalous gene is present in the family of one of the parents, the child will be born healthy, but in fifty percent of the cases a carriage of a genetic disease is observed. The disease primarily affects the respiratory and digestive system. Also sweat glands and the reproductive system are involved in the process.

Symptoms of cystic fibrosis in children are quite diverse and may even change over time. Most often the disease begins to manifest at an early age, but sometimes it happens much later. Cystic fibrosis is a systemic lesion of the internal organs, which implies lifelong treatment and taking medications.

The disease affects the quality and life expectancy, and also brings huge psychological discomfort. Early diagnosis of cystic fibrosis in children improves prognosis and helps to avoid the development of dangerous complications. Thus it is necessary to not forget, that the modern medicine has not learned to cure completely illness. What diagnostic methods are currently used to detect cystic fibrosis?

Cystic fibrosis is a genetic disease

Essence of the

examination The pathological process begins to develop during intrauterine development. Diagnosis of the disease is possible even early in pregnancy with the help of DNA analysis. Already after birth, the diagnosis is made based on the clinical symptoms and laboratory data available.

Currently, screening tests can identify ailament long before the appearance of any signs. To detect cystic fibrosis in newborns, a blood test for trypsin, a stool test for a coprogram, and a determination of the level of chlorine and sodium in the sweat are carried out.

The pulmonary form of cystic fibrosis differentiates with whooping cough, bronchial asthma, pneumonia, obstructive bronchitis, and the intestinal form - with enteropathy, dysbiosis. Pulmonary and intestinal form is only a conditional classification. Very often, patients can observe a violation of several organs and systems simultaneously.

Detection of pulmonary form

The disease manifests itself at an early age and affects both lungs simultaneously. In mild cases, manifestations of the disease resemble ordinary bronchitis. Relapses occur quite rarely and generally do not affect the quality of life of the child.

In severe cases, manifestations of the disease resemble pneumonia. The child has painful coughing attacks, in which thick sputum with a purulent secretion leaves. Such seizures are somewhat like a pertussis cough. During the examination, specialists observe a hard breathing accompanied by wheezing.

The internal glands of the respiratory tract produce a thick secret that is difficult to evacuate from the body, but rather clogs the small bronchi and bronchioles. This provokes the development of stagnant phenomena and chronic inflammatory reactions.

We will isolate the main symptoms by which pulmonary cystic fibrosis can be diagnosed:

• weakness, loss of strength, decreased efficiency;
• frequent ARI;
• skin becomes pale and bluish;
• poor weight gain.

With pulmonary cystic fibrosis, the physician detects severe breathing and wheezing

Increasing respiratory failure causes pathological changes in the cardiovascular system, which is what gradually causes heart failure. Clinically, this manifests itself in the form of a deformation of the fingers. They take the form of drumsticks. The nail plate is thinner, laminates, white strips appear on it.

For relief of clinical symptoms, bronchial drainage is performed. The child should be placed in such a way that the level of the shoulders is lower than the lower back. This will allow the mucous secret to quickly depart from the lungs. The specialist makes patting movements on the chest and back. Vibration contributes to the speedy evacuation of mucus.

Diagnosis of intestinal form

Intestinal cystic fibrosis is most often diagnosed in utero. Pathological changes in the pancreas lead to blockage of pancreatic ducts and blockage of the exit into the intestine. As a result of such changes, the pancreas begins to digest its own tissues.

In the first year of life, the baby already has fibrous and cystic changes. Violated and metabolic processes, which leads to the formation of toxic degradation products in the body.
Most often, clinical symptoms begin to appear when switching to artificial feeding or introducing complementary foods.

The child has a good appetite, but at the same time he looks drained and thin. The processes of fermentation in the body cause increased gas formation and bloating. Intestinal cystic fibrosis leads even to the defeat of the salivary glands. As a result, the saliva becomes too thick, and this affects the chewing of food.

Most often, the intestinal form causes the following symptoms:

• dyspeptic disorders, including flatulence and abdominal pain;
• hypovitaminosis;
• frequent urge to defecate, which result in the evacuation of stool;
• Drying in the mouth;
• chronic constipation;
• prolapse of the rectum;
• hepatomegaly - enlargement of the liver in size;
• the skin becomes inelastic and dry.

In cystic fibrosis, specialists diagnose a delay in the physical development of

It is extremely important to diagnose the problem in time, since intestinal cystic fibrosis is fraught with the development of dangerous complications, namely diabetes mellitus, cirrhosis, ascites, encephalopathy, gastric bleeding. Patients are assigned a balanced high-calorie diet with a low fat content. In the diet should be a large amount of protein food. With intestinal obstruction, enemas are prescribed.

Detection of the mixed form of

In this case, the doctors identify the symptoms of the intestinal and pulmonary forms. Already in the first weeks of life the baby is bothered by protracted bronchitis and pneumonia, accompanied by a severe cough. Processes of digestion of food are broken. From the rectum an oily liquid stool of green color is allocated.

In general, the symptoms may differ, and in many ways it depends on the stage of the pathological process. So, at the first stage there is a dry cough. Moderate dyspnea occurs after physical activity. At the second stage, chronic bronchitis is formed. Cough becomes wet, during which a thick secret separates.

The doctor may detect a hard breathing with wet rales. At this stage, the deformation of the phalanges of the fingers begins to manifest. When the process is transitioned to the next stage, the development of complications in the form of cysts and bronchiectasis is noted. Symptoms of respiratory failure increase. And the fourth stage is diagnosed in acute respiratory and cardiovascular insufficiency. It lasts only two months and ends with a fatal outcome.

A characteristic feature that can diagnose cystic fibrosis is the deformation of the fingers, they become like the drumsticks

Home examination

The diagnosis is made by a qualified specialist, but attentive parents can pay attention to some of the features:

• in infants with cystic fibrosis already from birth is observed meconium obstruction. The thin part of the intestine is clogged with the original stool. Meconium is so dense and thick that it simply can not be evacuated from the intestine. If the colon is blocked in the first two days after birth, the child will not have a bowel movement;
• when parents kiss a child, they may notice that the skin tastes salty;
• the child does not gain enough weight for his age, although the appetite is not broken;
• jaundice. This symptom may also be a manifestation of other diseases, or it may be a variant of the norm, so differential analysis is conducted by an experienced physician;
• infectious processes of the chest cavity. Dense mucus is a fertile soil for the development of bacterial infection. The child often suffers from bronchial infections, as well as chronic cough. Parents can pay attention to strong wheezing and shortness of breath;
• disease also provokes the development of sinusitis - inflammatory processes in the paranasal sinuses, as well as tonsillitis, pollen and adenoiditis;
• abdominal pain and bloating is another manifestation of the disease;
• feces smell bad, they get loose form and have a shiny surface, this is due to the fact that fats are poorly digested by the body;
• part of the rectum can protrude from the anorectal area. This is due to two problems: a chronic cough and an impenetrable chair.

If you have the first signs of cystic fibrosis, you need to contact a specialist. There is a huge number of symptoms of the disease and not every child they can have.

Modern diagnostic methods

Let's talk about the most effective methods for determining cystic fibrosis.

Genetic research

Specialists make a primary diagnosis even at 9-12 weeks of pregnancy. DNA diagnostics can be performed in an in vitro or another laboratory. You will need umbilical blood for the analysis. Usually, such a study is sent by a geneticist when the child is at risk for developing cystic fibrosis.

Nevertheless, genetic tests are unable to predict in advance whether the child's symptoms will be severe or mild. In many countries, genetic analysis is conducted in the planning of pregnancy. If an increased echogenicity of the intestine was detected during ultrasound diagnosis, this is an indication of an increased risk of cystic fibrosis.

DNA diagnosis can be performed after the birth of a child. Testing can pass both native and cousins, even if they have no symptoms of cystic fibrosis. Babies are usually tested for meconium obstruction.

Swab sample

The swab sample is a safe and painless method for diagnosing cystic fibrosis. Pilocarpine is used for the study. Stimulation of pathological glands is carried out with the help of a small electric current. For half an hour, the sweat secret is collected on gauze, after which it is examined for the chloride level.

Sometimes experts question the results of the first study, therefore it will be necessary to conduct a repeated diagnosis. Also, a re-examination is necessary in the event that, on the background of a negative result, marked clinical signs characteristic of cystic fibrosis are noted.

Potovuyu test can be conducted in the maternity hospital

Temporary increase in chlorine may be observed when ill-treating a child or lack of attention. A transient change in the level of this substance is also observed with anorexia nervosa.

Other types of examination

On the second or third day after birth, the baby takes blood for the determination of trypsinogen - a specific protein. Positive results of the sample are confirmed by the sweat breakdown and other studies. Other diagnoses may be required for the diagnosis:

• chest x-ray;
• total blood and urine analysis;
• bronchography;
• bronchoscopy;
• blood test to assess nutrient levels;
• bacterial analysis;
• pulmonary tests are conducted already at an older age to measure the effect of the disease on the respiratory system. With cystic fibrosis, the vital capacity of the lungs decreases, and the residual lung volume increases;
• feces analysis will help to identify gastrointestinal pathologies.

Sputum culture of

may be necessary for the diagnosis. The aim of the treatment process is to alleviate clinical symptoms and prevent complications. With a pulmonary form, antibiotics, mucolytics, bronchodilators, corticosteroids are prescribed. Speeding up the excretion of phlegm from the body is assisted by a special complex of respiratory gymnastics, which is carried out for life.

In intestinal cystic fibrosis, enzymatic agents, vitamin complexes are used. If liver damage is observed, hepatoprotectors can not be avoided. If cystic fibrosis was found in a newborn, the neonatologist first deals with the treatment, and then the pediatrician. It may also be necessary to consult a pulmonologist, gastroenterologist, endocrinologist, and other narrow specialists. Parents will need consultation with a geneticist.

Patients are placed on dispensary records and treated throughout their lives. In severe cases, children are hospitalized. Cystic fibrosis is a very serious disease, the prognosis of which depends largely on the complications and timing of the symptoms. If the signs of the disease began to manifest in infancy, the forecast is worse.

Early diagnosis and targeted treatment will help improve the outcome of the disease. Genetic consultation at the stage of pregnancy planning will help to avoid the birth of a child with cystic fibrosis. For the diagnosis is carried out a sweat test, DNA analysis, and it may also be necessary to carry out bacteriological culture of sputum.

Specialists have already learned to identify the disease in the early stages of pregnancy. If you experience any of the above symptoms, it is important to consult your doctor immediately. A timely diagnosis and a properly prescribed treatment regimen will help alleviate the condition of the child and prolong his life.