Cystic fibrosis in children

August 12, 2017 17:51 | Genetic Diseases

Cystic fibrosis (cystic fibrosis of the pancreas) is a hereditary disease transmitted in an autosomal recessive manner.Lesions caused by systemic disease of exocrine glands, and a slime (the respiratory tract, the intestine, pancreas), and serous (saliva, sweat, lacrimal).

typical feature of cystic fibrosis is to increase the viscosity of the secret slime glands that applied to bronchopulmonary system causes a sharp violation of the cleaning function of the bronchi and bronchial obstruction.

Until recently, there was the idea that cystic fibrosis is almost exclusively pediatric problem, because patients usually die in early childhood, and rarely survive to adolescence and adulthood even more.Cases of cystic fibrosis in adults were considered as rare oddities.In recent years the situation has changed significantly.So, thanks to the improvement of the number of treatments for cystic fibrosis patients surviving to 20 years or more has increased very significantly.On the other hand, the widespread use of

modern diagnostic methods, in particular the so-called sweat test enabled to recognize relatively favorable flowing erased in adult form of the disease.There was not without reason view, according to which the worn and in most cases, non-diagnosed form of the disease in question form the basis of obstructive bronchitis and other chronic respiratory pathology in a significant number of patients.The frequency of cystic fibrosis among live births ranges from 1: 8000 to 1: 559.

According to the beliefs of the majority of researchers, cystic fibrosis is a disease with an autosomal recessive mode of inheritance.

In recent years, thanks to the success of molecular genetics in cloning the DNA sequences set localization of the mutant gene in the long arm of chromosome 7.

infectious process in the bronchial tree plays a significant role in the development of cystic fibrosis.This is not only in violation of the drainage and cleaning function of the airways, but also with a significant decrease in immunity.The predominant flora in the bronchial contents are Pseudomonas aeruginosa, Staphylococcus aureus and Haemophilus influenzae, often in association.Chronic Pseudomonas infection causes changes in the immune system.

main morphological symptom of cystic fibrosis is the detection of viscous viscous secretions in the bronchial lumen and in the excretory ducts of the mucous glands.Sometimes in place glands cysts develop.With the opening of the majority of deaths from cystic fibrosis individuals are observed massive purulent bronchitis, massive discharge pneumonia.

Clinical signs of lung disease in cystic fibrosis often occur in the first year of life.The clinical picture of cystic fibrosis is quite diverse.Patients concerned about a cough with viscous sputum expectorated difficult, coughing up blood.In most cases, there is a complaint of shortness of breath during moderate exercise, and sometimes alone.In many cases, already in the first year of life there are digestive disorders, poor tolerance of fat, abdominal pain.Children are usually poorly gain weight.Sometimes there is prolapse of the rectum.

X-ray picture of cystic fibrosis depends on the severity and phase of the disease, as well as patients age.A typical spread is considered increased pulmonary pattern.Pulmonary drawing seems tyazhistym or mesh.In most cases, those and other changes combined.The roots of the lungs, tend to look extended.In some cases, there is lobular pattern, subsegmental or segmental atelectasis (spadenie lung tissue).In the case of increasing the airiness of light marked increase in the transparency of the lung fields, predominantly in the upper part, at least - low state and the lack of mobility of the diaphragm.

in acute interstitial lung pattern change is increasing, there is often segmental or polysegmental pneumonia.

When bronchoscopic study stated diffuse purulent endobronchitis.The secret of different viscosity and are difficult aspirated from the tracheobronchial tree.

Early onset pulmonary manifestations along with delayed physical development, frequent diarrhea, fatty food intolerance considered sufficiently characteristic clinical symptoms of cystic fibrosis.A certain diagnostic importance is the identification and thorough family history (in particular, the presence among the relatives who were ill or died in infancy from intestinal obstruction or persistent diarrhea, as well as respiratory diseases (pneumonia) or a fever of unknown origin).

extremely large, if not decisive role in the diagnosis of cystic fibrosis is the study of sweat ( "sweat test").

disease flows with periodic exacerbations of inflammation in the broncho-pulmonary system.For children is characterized by continuously relapsing (with periodic exacerbations) during the process.The prevalence of pathological process in the lungs, persistent lack of oxygen create conditions to increase the pressure in the pulmonary artery.Symptoms of pulmonary heart disease often found in young children.

From complications of cystic fibrosis of the respiratory system should be mentioned spontaneous pneumothorax.In forming the valve pneumothorax is a complication can be life threatening, especially in severe respiratory failure.Complications can be recognized by sudden onset of chest pain, or the appearance of a sharp increase in dyspnea, as well as the characteristic objective and radiological symptoms.

In children suffering from cystic fibrosis, says the delay of sexual development.In adult men marked decrease in sexual function, and in many cases, sterility associated with impaired sperm motility.

treatment of cystic fibrosis is aimed at suppressing the infection process in bronchopulmonary system, improve bronchial patency.This includes pancreatic insufficiency correction and diet therapy in patients with joint disease.

special place in the treatment of cystic fibrosis patients take antibiotics.Antibiotics are appointed in the period of exacerbation of inflammation in the broncho-pulmonary system.Due to frequent exacerbations, and often with a continually relapsing (with periodic exacerbations) over the disease courses of antibiotics are usually lengthy and repetitive.

the treatment of cystic fibrosis are commonly used broad-spectrum antibiotics (aminoglycosides, carbenicillin, cephalosporins III and IV generations, quinolones).

bronchial obstruction in patients with cystic fibrosis depend on the congestion in the air-conducting ways viscous sputum, to evacuate who are unable to work or ciliated epithelium, or the cough mechanism.Favourable therapeutic effect is modern aerosol inhalation of mucolytics, t. E. Drugs, thinning mucus (acetylcysteine ​​and its analogues, mukosolvina, mukomista).Brings some benefit and ultrasonic inhalation of 3% sodium chloride solution.Of great importance, especially in the case of moderate and severe forms of the disease have a therapeutic (sanation) bronchoscopy.During the bronchoscopy it is widely carried out in the introduction of the bronchial tree mucolytic drugs, antibiotics.In recent years also used bronchoalveolar lavage.An important role in the improvement of bronchial patency play vibratory massage and physiotherapy.

Diet therapy in patients with joint disease involves a limitation with simultaneous assignment fat soluble vitamins (A, D, E), and increased protein intake to 5.3 g per 1 kg of body weight per day, increased caloric intake.Pancreatic insufficiency is an indication for replacement therapy (pancreatin, panzinorm forte, Festal, Creon).

Extremely important is the problem of early detection of cystic fibrosis.Early identification of patients and the organization of specialized and systematic monitoring can significantly improve the prognosis of the disease.Obviously, reasonable introduction of mass screening for cystic fibrosis infants and young children.

applied in some cities of the country, in a number of foreign research on newborn carrier of cystic fibrosis gene allows the first days of life to establish a diagnosis and early to start proper treatment.

Special attention is paid to the possibility of prenatal diagnosis of pathology.Prenatal diagnosis in early pregnancy can prevent the birth of sick children.

prognosis for cystic fibrosis remains very serious.It is considered to be more favorable in the case of late signs of disease and erased favorably flowing forms.Early diagnosis and timely treatment of complex started in many cases can prevent the rapid progression of the disease and prolong life quite significantly.

immunoreactive trypsin in the blood of neonates (test for congenital cystic fibrosis)

Cystic fibrosis (cystic fibrosis) - a fairly common disease.Cystic fibrosis is inherited in an autosomal recessive manner, it reveals 1 in 1500-2500 newborns.In connection with the early diagnosis and effective treatment at the present time the disease is no longer considered to be inherent in a childhood and adolescence.With the improvement of methods of treatment and diagnosis of a growing number of patients reach adulthood.Currently, 50% of patients survive 25 years.The main method of early postnatal diagnosis mukovis-tsidoza - determination of serum concentration of trypsin newborns.Reference values ​​ immunoreactive trypsin (IRT) in serum are shown in Table.

Table Reference values ​​concentrations of immunoreactive trypsin in serum


Increased serum trypsin concentration of children in the first few weeks after birth, it indicates the presence of mukovistsi-dose, and therefore the definition of this indicator is considered an effective method of screening.As the disease progresses and the development of true pancreatic insufficiency in blood serum concentration is reduced trypsin.