Hepatocerebral dystrophy

Description:

Hepatocerebral dystrophy (hepatolenticular degeneration) - the chronic progressing hereditary and degenerative disease which is characterized by the combined defeat of subcrustal nodes of a brain and liver.

Symptoms of Hepatocerebral dystrophy:

It consists of symptoms of defeat of TsNS and internals. At patients muscular rigidity, various hyperkinesias, pseudobulbar symptoms, the progressing decrease in intelligence, change from a liver and an iris appear and increase. The syndrome of extrapyramidal disturbances is leading: muscle tension of a trunk, extremities, persons, drinks and as a result of they be disturbances of gait, swallowing, the speech. In parallel there are hyperkinesias of various character: the tremor, an athetosis, the torsion dystonia, intentsionny trembling amplifying in attempt of performance of autokinesias. Hyperkinesias have spasmodic character.

Depending on expressiveness and a combination of clinical manifestations, age at which there was a disease and extents of damage of a liver allocate four forms of hepatocerebral dystrophy.

    * Early rigid аритмогиперкинетическая a form, the most malignant on a current. Neurologic manifestations develop at the age of 7-15 years. It is preceded, as a rule, by signs of damage of a liver. In a clinical picture muscular rigidity and hyperkinesias prevail.
    * The trembling and rigid and trembling forms which are shown at later age (17-20 years). Are characterized by simultaneous emergence of rigidity and trembling which often happens the first symptom of a disease; gradually accruing, it can become the general, taking muscles of a trunk, extremities, faces, jaws, a soft palate, an epiglottis, phonatory bands, respiratory muscles, a diaphragm. Swallowing is broken, the speech becomes chanted. The expressed changes of mentality are often noted.
    * The extrapyramidal and cortical form allocated with N. V. Konovalov differs in disorder of the highest brain functions, existence of paralyzes, often epileptic seizures, rough decrease in intelligence with change of the personality.
    * The abdominal form is characterized by a preferential abnormal liver function. Neurologic symptoms join in later stages of a disease.

Reasons of Hepatocerebral dystrophy:

The mode of inheritance is autosomal and recessive. The leading pathogenetic link is genetically caused disturbance of synthesis of protein of the ceruloplasmin which is a part of α-globulins, transporting copper. Thereof high concentration of copper in blood is created and there is its adjournment in bodies and fabrics, is preferential in a liver, a brain, a cornea, and also in kidneys and other bodies. Toxic effect of copper is connected with the block of sulphhydryl groups in oxidizing enzymes that leads to disturbance of oxidation-reduction processes in a cell.

Treatment of Hepatocerebral dystrophy:

The main method of treatment is removal from an organism of excess of copper. For this purpose use thiol drugs to which Unithiolum and D-Penicillaminum belong. Doses select individually: D-Penicillaminum on average appoint in a dose from 0,45 to 2 g a day after food. Drug needs to be accepted during all life. Treatment in early stages of a disease is the most effective. Unithiolum is appointed repeated courses on 5 ml of 5% of solution intramusculary daily or every other day (to a course of 25 injections with a break between courses of 5-6 months). Treatment is combined with the drugs improving functions of a liver. The special diet with restriction of the products rich with copper, animal fats, proteins is recommended. Food has to be vitamin-rich also carbohydrates.