Cystic fibrosis in children

Cystic fibrosis ( cystic fibrosis of the pancreas) is a hereditary disease transmitted through the autosomal recessive type. The disease is caused by systemic damage to exocrine glands, both as mucus( respiratory tract, intestine, pancreas), and serous( salivary, sweaty, lacrimal).

A typical feature of cystic fibrosis is an increase in the viscosity of the secretion of the mucus glands, which, as applied to the bronchopulmonary system, causes a sharp violation of the purging function of the bronchi and bronchial patency.

Until recently, there was a perception that cystic fibrosis was almost exclusively a pediatric problem, as patients were usually killed in early childhood and very rarely lived to adolescence and, especially, adulthood. The incidence of cystic fibrosis in adults was considered to be the rarest casuistry. In recent years, the situation has changed significantly. So, thanks to the improvement of treatment methods, the number of patients with cystic fibrosis, who survive to 20 years or more, has increased significantly. On the other hand, the wide application of modern diagnostic methods, in particular the so-called sweat test, allowed to recognize relatively favorably flowing, erased forms of the disease in adults. A not unreasonable point of view emerged, according to which the erased and in most cases un-diagnosed forms of the disease under consideration underlie obstructive bronchitis and other chronic bronchopulmonary pathology in a significant number of patients. The incidence of cystic fibrosis among live newborns ranges from 1: 8000 to 1: 559.

According to most researchers, cystic fibrosis is a disease with an autosomal recessive type of inheritance.

In recent years, thanks to the success of molecular genetics, cloning of DNA sequences has established the location of the mutant gene in the long arm of the 7th chromosome.

The infectious process in the bronchial tree plays a significant role in the development of cystic fibrosis. This is due not only to the violation of the drainage-purifying function of the airways, but also to a significant decrease in immunity. The predominant flora in bronchial contents are Pseudomonas aeruginosa, Staphylococcus aureus and hemophilic rod, more often in association. Chronic pseudomonas infection causes changes in the immune system.

The main morphological symptom of cystic fibrosis is the detection of a viscous secretion in the lumens of the bronchi and in the excretory ducts of the mucous glands. Sometimes the glands develop cysts. When most people who died from cystic fibrosis have been autopsied, massive purulent bronchitis, massive discharge pneumonia, are observed.

Clinical signs of pulmonary involvement in cystic fibrosis most often occur in the first year of a child's life. The clinical picture of cystic fibrosis is quite diverse. Patients are concerned about coughing with viscous, difficult expectoration, hemoptysis. In most cases, there is a complaint of shortness of breath with moderate physical exertion, and sometimes even at rest. In many cases, from the first year of life, there are digestive disorders, poor tolerance of fats, and abdominal pain. Children, as a rule, poorly gain weight. Prolapse of the rectum.

X-ray picture of cystic fibrosis largely depends on the severity and phase of the course of the disease, and also on the age of the patients. Typical is the widespread increase in pulmonary pattern. The pulmonary pattern appears taut or mesh. In most cases, these and other changes are combined. The roots of the lungs, as a rule, look enlarged. In a number of cases, there is a pattern of lobular, subsegmental or even segmental atelectasis( lung tissue collapse).In the case of increased lightness of the lungs, there is an increase in the transparency of the pulmonary fields predominantly in the upper regions, less often a low standing and insufficient mobility of the diaphragm.

In the period of exacerbations, interstitial changes in the lung pattern increase, often there is segmental or polysegmentary pneumonia.

With bronchoscopic examination, diffuse purulent endobronchitis is established. The secret is viscous and difficult to aspirate from the tracheobronchial tree.

Early onset of pulmonary manifestations, along with delayed physical development, frequent diarrhea, intolerance to fatty foods are considered to be sufficiently characteristic clinical signs of cystic fibrosis. The careful identification of a family history( in particular, the presence among relatives who have fallen ill or died in early childhood from intestinal obstruction or persistent diarrhea, as well as from respiratory diseases( pneumonia) or from fever of unknown origin, is of definite diagnostic importance).

Extremely large, if not decisive in the diagnosis of cystic fibrosis has a study of sweat( "sweat test").

The disease flows with periodic exacerbations of the inflammatory process in the bronchopulmonary system. For children, the recurrent( with periodic exacerbations) of the course of the process is characteristic. The prevalence of the pathological process in the lungs, persistent lack of oxygen create conditions for increased pressure in the pulmonary artery. Signs of the pulmonary heart are often found in young children.

Of the complications of cystic fibrosis from the respiratory system, mention should be made of spontaneous pneumothorax. With the formation of valvular pneumothorax, this complication can endanger life, especially with severe respiratory failure. Complication can be recognized by the sudden occurrence of pain in the chest, the appearance or sharp increase in dyspnea, as well as by the characteristic of objective and roentgenological symptoms.

In children with cystic fibrosis, there is a delay in sexual development. In adult men, there is a decrease in sexual function and, in many cases, sterility associated with impaired sperm motility.

Treatment of cystic fibrosis is aimed at suppressing the infectious process in the bronchopulmonary system, improving bronchial patency. It includes correction of pancreatic insufficiency and diet therapy in patients with a mixed form of the disease.

A special place in the treatment of patients with cystic fibrosis is antibiotic. Antibiotics are prescribed in the period of exacerbation of the inflammatory process in the bronchopulmonary system. In connection with frequent exacerbations, and often with continuously recurring( with periodic exacerbations) course of the disease, antibiotic courses are usually prolonged and repeated.

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

Disturbances of bronchial patency in patients with cystic fibrosis depend on the accumulation of viscous sputum in the airways, which can not be evacuated either by the activity of the ciliary epithelium, or by the cough mechanism. A favorable therapeutic effect is provided by aerosol inhalations of modern mucolytics, i.e. preparations diluting sputum( acetylcysteine ​​and its analogues, mucosolvina, mucomist).A certain benefit is brought also by ultrasonic inhalations of a 3% solution of table salt. Great importance, especially in the case of moderate and severe forms of the disease, have medical( sanative) bronchoscopy. When carrying out bronchoscopies, the introduction of mucolytic drugs and antibiotics into the bronchial tree is widely implemented. In recent years, bronchoalveolar lavage has also been used. An important role in improving bronchial patency is played by vibro-massage and therapeutic exercise.

Dietotherapy in patients with a mixed form of the disease involves some restriction of fat with the simultaneous administration of fat-soluble vitamins( A, D, E) and an increase in protein intake to 3-5 g per 1 kg of body weight per day, an increase in caloric intake. Insufficiency of the pancreas function is an indication for substitution therapy( pancreatin, panzinorm-forte, festal, creon).

The problem of early detection of cystic fibrosis is extremely important. Early detection of patients and the organization of special and systematic observation can significantly improve the prognosis of the disease. Obviously, the introduction of mass screening for cystic fibrosis of newborns and young children is justified.

The study of newborns on carriage of the cystic fibrosis gene used in some cities of our country, in a number of foreign countries, allows to establish a diagnosis from the first days of life and to begin adequate treatment early.

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

The prognosis for cystic fibrosis remains very serious. It is considered more favorable in cases of late appearance of signs of the disease and with erased, favorably flowing forms. Early diagnosis and promptly initiated comprehensive treatment in many cases can prevent rapid progression of the disease and greatly prolong life.

Immunoreactive trypsin in the blood of newborns( test for congenital cystic fibrosis)

Cystic fibrosis( cystic fibrosis) is a fairly common disease. Cystic fibrosis is inherited by autosomal recessive type, it is detected in 1 of 1500-2500 newborns. Due to early diagnosis and effective treatment, the disease is no longer considered to be inherent only in childhood and adolescence. With the improvement of methods of treatment and diagnosis, an increasing number of patients reach adulthood. Currently, 50% of patients survive to 25 years. The main method of early postnatal diagnosis of cystic fibrosis is the determination of the concentration of trypsin in the serum of newborns. The reference values ​​ of immunoreactive trypsin ( IRT) in serum are shown in Table.

Table Reference values ​​for the concentration of immunoreactive trypsin in the blood serum

The increase in serum concentration of trypsin in children in the first few weeks after birth indicates the presence of a cystic fibrosis, and therefore the definition of this indicator is considered an effective screening method. With the progression of the disease and the development of true pancreatic insufficiency, the concentration of trypsin in the blood serum decreases.