Mucoviscidosis

Description:

The mucoviscidosis is the widespread hereditary disease affecting all exocrine bodies – a pancreas, a respiratory organs, digestive tract, stalemate, sexual and sialadens. The name of a disease comes from Latin words of mucus (slime) and viscidus (viscous).
The mucoviscidosis is known for a long time, however until recently due attention was not paid to a problem of this disease.
Prevalence of a mucoviscidosis is not identical in various countries. In Northern Europe frequency reaches 1:2500, and in the countries of Africa and Asia the mucoviscidosis meets much less often – 1:100000. The mucoviscidosis is most often diagnosed for children at younger and middle age.

Mucoviscidosis reasons:

The reason of a mucoviscidosis consists in a mutation of the special gene located on a long shoulder of the 7th chromosome (q31-q32 area).
Lack of synthesis of the transmembrane regulator leads to pathological changes in transport of chlorides in epithelial cells. The specified mechanism leads to a surplus of chlorides and development of hypersecretion of slime. Slime has a dense consistence therefore output channels are corked and removal of slime from them is at a loss. Formation of cysts begins. Dense slime corks not only output channels of glands, but also small bronchial tubes. The struck pulmonary fabric is inclined to infection, the developing heavy recurrent bronchitis, pneumonia. The affected pancreas does not cope with exocrine function, the food coming to an organism are not acquired therefore patients lag behind in weight. The secret of sweat glands contains the increased quantity of ions of chlorine and sodium.

Mucoviscidosis symptoms:

4 clinical forms of a mucoviscidosis are allocated:
1. Mekoniyevy Ilheus newborns is a form of an inborn mucoviscidosis of which excessive accumulation of dense meconium in the child's intestines by the time of the birth is characteristic. In the first days of life of the sick child full intestinal impassability which only method of treatment is an operative measure is found. Mekoniyevy Ilheus meets in 1% of all forms of a mucoviscidosis.
2. The intestinal form of a disease is shown during transfer of a diet of the child into artificial nutrition which is entered by force in connection with enzymatic insufficiency. The child loses flesh. The chair becomes plentiful, gets a fetid smell, light color, has the increased content of fat. At an intestinal mucoviscidosis abdominal distention is observed. When involving a liver cirrhosis, cholestatic hepatitis, fatty infiltration forms. About 5-10% of cases of a mucoviscidosis are shown by an intestinal form.
3. The bronchopulmonary form is observed at excess products of dense slime in a respiratory path. The manifesto of a disease is often connected with the postponed SARS. As a result of the increased density of a secret obstruction of respiratory tracts is observed. Secondary infection of a respiratory path is quite often observed. Heavy pneumonia, it is purulent - obstructive bronchitis has recurrent character, the frequency of their emergence is reached several cases a year. Secondary changes of respiratory system are shown by emphysema, bronchiectasias, a pneumosclerosis, formation of a pulmonary heart. Consecutive infection is more often caused by a pyocyanic stick, staphylococcus, a hemophilic stick or their associations. The found microorganisms show high sensitivity to widespread antibiotics. The high lethality caused by development of respiratory and heart failure is observed. On a share of a bronchopulmonary form take away up to 20% a mucoviscidosis case.
4. Much more (to 75% of cases) meets mixed more often (a pulmonary and intestinal form) a mucoviscidosis. The clinical picture consists of the symptoms inherent for an intestinal and pulmonary form of a disease.

Diagnosis:

Except the clinical symptoms inherent to a mucoviscidosis, for diagnosis of a disease it is necessary to conduct a research of stalemate liquid. Sodium detection more than 70 mmol/l, and chlorine – more than 60 mmol/l testifies in favor of a mucoviscidosis. For specification of the diagnosis use molecular and genetic technology. The screening program for diagnosis of a mucoviscidosis, first of all, includes measurement of level of immunoreactive trypsin in blood. For this purpose the drop of the studied blood is applied on filter paper and dried up. There are ready sets of instruments for diagnosis for this research.
The formal, molecular, clinical and population genetics of a mucoviscidosis is comprehensively studied. The gene which is responsible for development of a mucoviscidosis is in the 7th chromosome, consists of 250 000 couples of nucleotides and 27 exons. The area of influence of a gene is limited to epithelial cells. Its expression in pancreases, salivary and sweat glands, intestines is most expressed. In a gene there are about 900 mutations, about a third from them result in pathological effects (to deletion, миссенс, a nonsense, a frameshift, disturbances of splicing). The technique of identification of a mucoviscidosis is possible thanks to PTsR. Prevalence was received by prenatal diagnosis of a mucoviscidosis.

Treatment of the Mucoviscidosis:

1. Postural massage
2. Regular physical exercises.
3. Diet:
- proteinaceous food;
- the increased energy value of the eaten food;
- vitamin therapy in the doubled dosage.
4. Broncholitic drugs: beta2-adrenomimetik in inhalations (salbutamol, Fenoterolum).
5. Mucolyticums:
- inhalations via Mucolyticum nebulizer to a dormaza an alpha;
- pulmozy it is inhalation;
- Bromhexine.
6. At pulmonary insufficiency oxygen inhalations are shown. With an unstable positive pressure the oxygenotherapy is contraindicated.
7. Correction of enzymatic insufficiency by purpose of a lipase in a dosage on 1500 pieces/kg inside in time or right after food. At purpose of a lipase it is necessary to be careful in view of obstruction of a large intestine.
8. Development of a diabetes mellitus against the background of a mucoviscidosis is the indication for administration of insulin.
9. Antibacterial therapy.
Inside:
- a preventive antibioticotherapia is carried out by cefalexin, effective concerning staphylococcus. Drug is not appointed to children of chest age;
- At an exacerbation of a disease ciprofloxacin is shown. This drug children should appoint younger than 10 years with care.
The antibiotic Tobramycinum is applied 3 times a day are inhalation on 80 mg. Tobramycinum is also applied at a psevdomonadny infection, in that case the dose of drug makes 10 mg/kg.
Surgical treatment of a mucoviscidosis it is reasonable at the developed mekoniyevy impassability. In case of development in adults of invagination enemas with diatriazoty sodium are shown. Repeated cases of pheumothorax the plevroektomiya or a pleurodesis is shown. Removal of a lung lobe (lobectomy) is carried out at local bronchiectasias concerning which conservative therapy is inefficient.