Mukopolisakharidoz

Mukopolisakharidoza represent big group of the monogenic hereditary diseases resulting from disturbance in lysosomes of multistage process of an enzyme catalysis of glikozaminoglikan (EIDERS).

Glikozaminoglikana are difficult heterosugar which consist of the polisakharidny chains consisting of the remains sulphated a hexosemine and glucuronic acid. Dermatansulfat, кератансульфат, гепарансульфат, hondroitin-6-and chondroitin-4-sulfate glikozaminoglikanam are.

For the first time the disease мукополисахаридоз was described in 1917 by Gurler. Now about 10 genetic types of a mukopolisakharidoz, five of which result from disturbance of activity of sulphatases, are known, four – гликозидаз and one type develops at shortage of transferase. At a mukopolisakharidoza there is an accumulation of particles in an organism that leads to emergence in the person of various symptoms and pathologies.

The disease is inherited on autosomal recessively type.

What occurs at a mukopolisakharidoza?

In the presence of a disease there is a defeat of system of lysosomic enzymes which take part in a catabolism of glikozaminoglikan. As a result of deficit of enzymes in bodies and fabrics there is an accumulation of glikozaminoglikan that allows to rank мукополисахаридоз as an accumulation disease.

Accumulation of glikozaminoglikan leads to disturbance of a functional condition of various systems and bodies and because glikozaminoglikana are a part of connecting fabric, one of the main symptoms of a mukopolisakharidoz is systemic lesion of a skeleton and a delay in physical development. Especially it is expressed at I, IV, VI types of a mukopolisakharidoz.

Symptoms of a mukopolisakharidoz

The delay in growth which begins by the end of the first year of life of the child belongs to symptoms of a mukopolisakharidoz. It should be noted rugged features: big language, the hanging forehead, deformation of teeth and ears, a hypertelorism. The thorax is deformed, the kyphosis of lumbar and chest departments of a backbone is pronounced. The gepatosplenomegaliya, inguinal and umbilical hernias, restriction of mobility of joints are characteristic.

On X-ray inspection it is possible to see "fish" vertebrae, early ossification of an occipitoparietal seam. At the same time formation of kernels of ossification is not broken.

The general motive block, diffusion hypomyotonia belong to neurologic symptoms of a mukopolisakharidoz. Also easing of hearing and decrease in intelligence is characteristic of different types of a mukopolisakharidoz.

Types of a mukopolisakharidoz

On degree of manifestation of psychological symptoms and bone changes, and also on the speed of progressing of exchange disturbances 7 types of a mukopolisakharidoz are known:

• The I type which also call Gurler's syndrome. To a disease bystry development is characteristic. In urine of patients the high content of a hondroitinsulfat In and a geparitinsulfata is found. It is inherited on autoimmune recessively type.
• II type, or Gunter's syndrome. At this disease the pigmental retinitis, relative deafness is noted. The disease progresses slowly. In urine the increased maintenance of a geparitinsulfat and hondroitinsulfat In, but in smaller quantities is also observed. It is inherited on recessive type, depends on a floor.
• III type, Sanfilippo's syndrome. Heavy weak-mindedness and a large number of a geparitinsulfat in urine is characteristic of this type. Inheritance is autoimmune and recessive.
• IV type, or Morkio's syndrome. Essential deformation of a skeleton, especially a thorax is noted. Unlike other types lack of opacification of a cornea, decrease in intelligence and emergence of rugged features is characteristic.
• V type, Sheye's syndrome. It is characterized by opacification of a cornea and the moderate expressed deformation of a skeleton. It is inherited on autoimmune recessively type.
• VI type, or Maroto-Lamy's syndrome. The barrel-shaped thorax, rugged features are characteristic lag in growth.
• The VII type arising owing to shortage of beta glucuronidase.

Diagnosis of a mukopolisakharidoz

Diagnosis of a disease is based on carrying out genealogical, clinical and biochemical trials.

Treatment of a mukopolisakharidoz

The disease preferential has a symptomatic treatment. To the patient appoint hormonal drugs: Prednisolonum, Thyreoidinum, AKTG for suppression of production of mucopolysaccharides. At treatment of mukopolisakharidoz to the patient appoint big dosages of vitamin A and drugs for normalization of cordial activity. If necessary can appoint cytostatic means.

Prevention of a mukopolisakharidoz

Specific prevention of a disease does not exist. Carrying out prenatal diagnosis is necessary for detection of shortage of enzymes in amniotic cells.