Mukovistsidoz – the serious congenital illness which is shown defeat of fabrics and violation of sekretorny activity of ekzokrinny glands, and also functional frustration, first of all, from respiratory and digestive systems. Separately allocate a pulmonary form of a mukovistsidoz. Except it the intestinal, mixed, atypical shapes and mekonivy impassability of intestines meet. Pulmonary it is shown at children's age by pristupoobrazny cough with a dense phlegm, an obstructive syndrome repeated long bronchitis and pneumonia, the progressing disorder of respiratory function leading to deformation of a thorax and symptoms of a chronic hypoxia. The diagnosis is established according to the anamnesis, a X-ray analysis of lungs, a bronkhoskopiya and a bronchography, spirometry, molecular and genetic testing.
Mukovistsidoz – the serious congenital illness which is shown defeat of fabrics and violation of sekretorny activity of ekzokrinny glands, and also functional frustration, first of all, from respiratory and digestive systems.
Changes at a mukovistsidoza affect a pancreas, a liver, sweat, salivary glands, intestines, bronchopulmonary system. The disease is hereditary, with autosomno-recessive inheritance (from both parents carriers of a mutant gene). Violations in bodies at a mukovistsidoza arise already in a pre-natal phase of development, and with age the patient progressively accrue. The earlier it was shown , the course of a disease is heavier, and the more seriously there can be its forecast. Due to the chronic course of pathological process, patients with mukovistsidozy need continuous treatment and observation of the expert.
Reasons and mechanism of development of a mukovistsidoz
In development of a mukovistsidoz by leaders three main issues are: defeat of glands of external secretion, change from connecting fabric, water and electrolytic violations. As the reason of a mukovistsidoz serves the gene mutation as a result of which the structure and functions of protein of MVTR (the transmembrane regulator of the mukovistsidoz) participating in water and electrolytic exchange of the epithelium covering bronkhopulmonalny system, a pancreas, a liver, digestive tract, bodies of reproductive system is broken.
At a mukovistsidoza physical and chemical properties of a secret of ekzokrinny glands change (slime, plaintive liquid, sweat): it becomes dense, with the increased content of electrolytes and protein, is practically not evacuated from output channels. The delay of a viscous secret in channels causes their expansion and formation of small cysts, most bronchopulmonary and digestive systems.
Electrolytic violations are connected with high concentration of calcium, sodium and chlorine in secrets. Stagnation of slime leads to an atrophy (usykhaniye) of ferruterous fabric and the progressing fibrosis (to gradual replacement of fabric of gland - connecting fabric), to early emergence of sclerous changes in bodies. Development of a purulent inflammation in case of secondary infection complicates situation.
Defeat of bronchopulmonary system at a mukovistsidoza happens owing to difficulty of an otkhozhdeniye of a phlegm (viscous slime, malfunction of a vibrating epithelium), development of a mukostaz (stagnation of slime) and a chronic inflammation. Violation of passability of small bronchial tubes and bronchioles is the cornerstone of pathological changes of respiratory organs at a mukovistsidoza. Bronchial glands with – purulent contents, increasing in sizes, are stuck out and block a gleam of bronchial tubes. Meshotchaty, cylindrical and "tear-shaped" bronkhoektaza are formed, emphysematous sites of a lung are formed, at a full obturation of bronchial tubes by a phlegm – zones of an atelektaz, sclerous changes of tissue of lung (a diffusion pneumosclerosis). At a mukovistsidoza pathological changes in bronchial tubes and lungs are complicated by accession of a bacterial infection (golden staphylococcus, a sinegnoyny stick), an abstsedirovaniye (lung abscess), development of destructive changes. It is connected with violations in system of local immunity (decrease in level of antibodies, interferon, fagotsitarny activity, change of a functional condition of an epithelium of bronchial tubes).
Except bronchopulmonary system at a mukovistsidoza damage of a stomach, intestines, pancreas, liver is noted.
Clinical forms of a mukovistsidoz
Mukovistsidoz is characterized by variety of manifestations which depend on expressiveness of changes in these or those bodies (glands of external secretion), existence of complications, age of the patient. The following forms of a mukovistsidoz meet:
- pulmonary ( lungs);
- mixed (respiratory organs and a digestive tract are surprised at the same time);
- mekoniyevy impassability of intestines;
- the atypical forms connected with the isolated defeats of separate glands of external secretion (tsirrotichesky, it is edematous – anemichesky), and also the erased forms.
Division of a mukovistsidoz into forms is conditional as at primary defeat of a respiratory path also violations of digestive organs are observed, and at an intestinal form changes from bronchopulmonary system develop.
The main factor of risk in development of a mukovistsidoz is heredity (transfer of defect of protein of MVTR - the mukovistsidozny transmembrane regulator). Initial manifestations of a mukovistsidoz are observed usually in the earliest period of life of the child: in 70% of cases detection happens in the first 2 years of life, at more advanced age is much more rare.
Pulmonary (respiratory) form of a mukovistsidoz
The respiratory form of a mukovistsidoz is shown at early age and characterized by pallor of an integument, slackness, weakness, a small increase in weight at normal appetite, frequent SARS. At children constant pristupoobrazny, koklyushepodobny cough with a dense slizisto – a purulent phlegm, repeated long (always bilateral) pneumonia and bronchitis, with the expressed obstructive syndrome is observed. Breath is rigid, dry and damp rattles are listened, at obstruction of bronchial tubes - the dry whistling rattles. There is a probability of development of infectious and dependent bronchial asthma. Violations of respiratory function can steadily progress, causing frequent aggravations, increase of a hypoxia, symptoms pulmonary (short wind at rest, cyanosis) and heart failure (tachycardia, "pulmonary heart", hypostases). There is a deformation of a thorax (keeled, barrel-shaped or funneled), change of nails in the form of hour glasses and trailer phalanxes of fingers in a form of drum sticks. At a long current of a mukovistsidoz the nasopharynx inflammation is found in children: chronic sinusitis, tonsillitis, polyps and adenoides. At considerable malfunction of external breath the shift in acid-base balance towards acidosis is observed
If the pulmonary symptomatology is combined with extra pulmonary manifestations, then speak about the mixed form of a mukovistsidoz. She is characterized by a heavy current, meets more often others, combines pulmonary and intestinal symptoms of a disease. From the first days of life heavy repeated pneumonia and bronchitis of long character, constant cough, disorder of digestion are observed.
Criterion of weight of a current of a mukovistsidoz it is considered to be character and extent of defeat of a respiratory path. In this regard allocate with criterion at a mukovistsidoza four stages of defeat of respiratory system:
- The I stage is characterized by changeable functional changes: dry cough without phlegm, insignificant or moderate short wind at physical activity.
- The II stage is connected with development of chronic bronchitis and is shown by cough with office of the phlegm moderated by the short wind amplifying at a tension, the deformation of phalanxes of fingers of hands, damp rattles which are listened against the background of rigid breath.
- The III stage is accompanied by progressing of defeats of bronkhopulmonalny system and development of complications (a limited pneumosclerosis and diffusion pneumofibrosis, cysts, bronkhoektaz, the expressed respiratory and heart failure on right ventricular type ("pulmonary heart").
- The IV stage is characterized heavy warmly - the pulmonary insufficiency leading to a lethal outcome.
Complications of a mukovistsidoz
The current of a mukovistsidoz can be aggravated with complications:
- from a respiratory path – sinusitis, pleurisy, a blood spitting and pulmonary bleeding, pheumothorax, "pulmonary heart", destruction of lungs, an empiyemy pleura, etc.
- in case of an intestinal form – diabetes, gastric bleeding, cirrhosis, a tseliakiya syndrome, intestinal impassability, loss of a rectum, an edematous syndrome, secondary pyelonephritis and an urolithic disease against the background of exchange violations, etc.
Diagnostics of a mukovistsidoz
In due time made diagnosis at a mukovistsidoza is very important in respect of the forecast of life of the sick child. The pulmonary form of a mukovistsidoz is differentiated with obstructive bronchitis, whooping cough, chronic pneumonia of other genesis, bronchial asthma; an intestinal form - with the violations of intestinal absorption arising at a tseliakiya, an enteropatiya, an intestinal dysbiosis, disakharidazny insufficiency.
Diagnosis of a mukovistsidoz provides:
- Studying of the heredo-familial anamnesis, early symptoms of a disease, clinical manifestations;
- General blood test and urine;
- To Koprogramm - a research a calla on existence and content of fat, cellulose, muscle fibers, starch (defines extent of enzymatic violations of glands of a digestive tract);
- Microbiological research of a phlegm;
- Bronchography (finds existence of characteristic "tear-shaped" bronkhoektaz, defects of bronchial tubes)
- To Bronkhoskopy (reveals presence at bronchial tubes of a dense and viscous phlegm in the form of threads);
- X-ray analysis of lungs (reveals infiltrative and sclerous changes in bronchial tubes and lungs);
- Spirometry (defines a functional condition of lungs by measurement of volume and speed of the exhaled air);
- The stalemate test - a research of electrolytes of sweat - the main and most informative analysis on (allows to reveal the high content of ions of chlorine and sodium in the patient's sweat with mukovistsidozy);
- Molecular and genetic testing (blood test or DNA samples on existence of mutations of a gene of a mukovistsidoz);
- Prenatal diagnostics - inspection of newborns on genetic and congenital diseases.
Treatment of a mukovistsidoz
As a mukovistsidoza as diseases of hereditary character, it is impossible to avoid, timely diagnosing and the compensating therapy gain paramount value. The earlier adequate treatment of a mukovistsidoz is begun, the it is more than chances to survive appears at the sick child.
Intensive therapy at a mukovistsidoza is carried out to patients with respiratory insufficiency of the II-III degree, destruction of lungs, a decompensation of "pulmonary heart", a blood spitting. Surgical intervention is shown at severe forms of intestinal impassability, suspicion of peritonitis, pulmonary bleeding.
Treatment of a mukovistsidoz mostly symptomatic, is directed to restoration of functions respiratory and digestive tract, is carried out throughout all life of the patient. At prevalence of an intestinal form of a mukovistsidoz the diet with the high content of proteins (meat, fish, cottage cheese, eggs), with restriction of carbohydrates and fats is appointed (it is possible only easily acquired). Rough cellulose is excluded, at laktazny insufficiency – milk. It is always necessary to add some salt to food, to consume the increased amount of liquid (especially in hot season), to accept vitamins.
Replacement therapy at an intestinal form of a mukovistsidoz includes administration of drugs, containing digestive enzymes: Pancreatinum, etc. (the dosage depends on weight of defeat, it is appointed individually). About efficiency of treatment judge by normalization of a chair, disappearance of pains, lack of neutral fat in Calais, normalization of weight. For decrease in viscosity of digestive secrets and improvement of their outflow appoint .
Treatment of a pulmonary form of a mukovistsidoz is directed to decrease in a vyzkost of a phlegm and restoration of passability of bronchial tubes, elimination of infectious and inflammatory process. Appoint mukolitichesky means () in the form of aerosols or inhalations, sometimes inhalations with fermental medicines (chymotrypsin, ) daily during all life. In parallel with physiotreatment apply physiotherapy exercises, vibration massage of a thorax, a position (posturalny) drainage. With the medical purpose carry out bronchoscopic sanitation of a bronchial tree with use of mukolitichesky means (a bronkhoalveolyarny unleavened wheat cake).
In the presence of sharp displays of pneumonia, bronchitis carry out antibacterial therapy. Also use the metabolic medicines improving myocardium food: cocarboxylase, potassium , glucocorticoids, warm glycosides apply.
Patients with mukovistsidozy are subject to dispensary observation of the pulmonologist and local therapist. Relatives or parents of the child study methods of vibration massage, rules of care of the patient. The question of carrying out preventive inoculations to the children suffering mukovistsidozy is solved individually.
Children with easy forms of a mukovistsidoz receive sanatorium treatment. Stay of children, patients mukovistsidozy, in preschool institutions it is better to exclude. The possibility of visit of school depends on a condition of the child, but to it additional day of rest within educational week, time for treatment and inspection, release from examination tests is defined.
Forecast and prevention of a mukovistsidoz
The forecast of a mukovistsidoz is extremely serious and is defined by disease severity (in particular, a pulmonary syndrome), time of emergence of the first symptoms, timeliness of diagnostics, adequacy of treatment. The big percent of lethal outcomes is observed (especially sick children of the 1st year have lives). The earlier for the child it is diagnosed , purposeful therapy is begun, the favorable current is more probable. In recent years average life expectancy of the patients suffering mukovistsidozy increased and in the developed countries makes 40 years.
Questions of planning of a family, medico-genetic consultation of couples in which there are patients mukovistsidozy, medical examination of patients with this heavy illness are of great importance.