Mukopolisakharidoz

Description:

Mukopolisakharidoza is a group of the hereditary diseases caused by incomplete destruction and accumulation of acid mucopolysaccharides (glikozoaminoglikan).
The clinic is caused by their accumulation in various bodies. Mucopolysaccharides play an important role in maintenance of elasticity and integrity of connecting fabric, elasticity of a cartilage. Mukopolisakharidoza are inherited on autosomal recessively type, except for Gunter's syndrome. There are several types of a disease differing on biochemical defect.

Mukopolisakharidoz's symptoms:

Mukopolisakharidoz of 1 type – Gurler's syndrome. It is characterized by deficit of enzyme alpha идуронизады that leads to accumulation of products of metabolism in fabrics and their eskretion with urine. In all fabrics the vacuolated cells containing the lysosomes overflowed with mucopolysaccharides are located. In cells of a brain lipids collect.
Children with Gurler's syndrome at the time of the birth look healthy and clinical manifestations appear on the second year of life. At objective inspection reveal a gepatosplenomegaliya, the strengthened kyphosis, constant allocations from a nose, noisy breath. There are dismorfichesky changes: the convex and hanging forehead, a flat nose with the sunk-down nose bridge, rough and reinforced lips, a hypertelorism. Head hair rigid and dense. Language is increased, teeth small, auricles are deformed. The voice is hoarse. The trunk is short, the thorax is deformed, the chest and thoracolumbar kyphosis is expressed. An epiphysis of long bones is thickened and expanded, ossification is broken. There are displays of heart disease. The stomach is increased, the hepatomegalia and umbilical hernia take place. Fingers of brushes are in halfbent situation, mobility of joints is limited. At most of patients opacification of a cornea, a cataract, inborn glaucoma is observed. The intelligence suffers, patients suffers, patients lag behind in intellectual development.
Mukopolisakharidoz 2 types – Gunter's syndrome. It is only мукополисахаридоз, linked to X-chromosome. Occurs at boys. Current its more high-quality. Development of this disease is connected with insufficiency of enzyme of an iduronatsulfataza. There is a type A and type B of this disease.
Type A – a classical form of a syndrome of Gunter. Rugged features, low-tallness, rigidity of joints, a gepatosplenomegaliya, hernias, the expressed mental retardation are characteristic of it. The disease progresses more slowly. Often at patients hearing is lost. The skin manifestations consisting in emergence of papules on back skin are frequent. Heart is often involved in pathological process. The moderate kyphosis can be noted. Life expectancy – about 20 years.
Type B – much more high-quality, life expectancy at patients big.
Mukopolisakharidoz 3 types – Sanfilippo's syndrome. Is followed by an eskretion with urine of a geparinsulfat who also collects in fabrics. The disease is shown by the deepest progressing delay of intellectual development. Clinical manifestations are brightly expressed at children of early age. The child lags behind in development, is hyperactive. Up to 10 years there is a bystry progressing aggravation of symptoms. Most of children dies in the middle of the second decade of life. Mental retardation, rigidity of joints, a gepatosplenomegaliya, hernias, a multiple dysostosis belong to characteristic symptoms of a disease.
Mukopolisakharidoz 4 types – Morkio's syndrome. It is caused by deficit of enzymes of gaaktozo-6-sulphatase and galaktozamin-6-sulphatase. On the 2nd year of life children begin to lag behind in growth and at them appears skeletal deformations (valgus deformation of knee joints, protrusion of the lower edges, a kyphoscoliosis). Extent of shortening of a trunk exceeds shortening of extremities. The intelligence is rather kept. The delay of physical development, opacification of a cornea acting the lower part of the person, a hypoplasia of enamel of teeth, a short neck, a keeled thorax, a lumbar lordosis is noted. Such children have a pot-belly, hyper mobility and incomplete dislocations of joints, flat-footedness, decrease in hearing is noted. By 20 years aorta regurgitation comes to light. Death to this age usually comes  from cordial and neurologic symptomatology (owing to a prelum of a spinal cord the deformed vertebrae). Diagnosis is based on identification in urine of a keratansulfat or acid mucopolysaccharides. The mode of inheritance is autosomal and recessive.

Mukopolisakharidoz's treatment:

Still there is no effective treatment of a syndrome of Gurler, therapy is generally applied symptomatic and orthopedic. Patients usually die in the teenager age.
Treatment of a disease consists in purpose of transfusions of blood, plasma and leukocytic weight. Use of glucocorticoids, Thyreoidinum, vitamin A, group B vitamins is shown.
The forecast at all types of mukopolisakharidoz adverse, a disease steadily progresses, and the lethal outcome can come at any age. Cases of death of patients from sopustvuyushchy pathology of heart and joining of the infectious agent are frequent.

Prevention:

As there is no effective therapy of mukopolisakharidoz now, it is necessary to reveal a disease in the neonatal period. Performing transabdominal amniocentesis at pregnant women with high risk level of the birth of children with mukopolisakharidozy is represented reasonable. Cultivation of cells of amniotic liquid and definition of activity of enzymes in them splitting glikozaminglikana allows to carry out adequate antenatal diagnosis of mukopolisakharidoz to early durations of gestation (9-12 weeks). Not less important component of prevention of mukopolisakharidoz carrying out the selection screening for the purpose of inspection of some contingents of patients is represented: people with low sight, with a delay of intellectual development, disturbances of a musculoskeletal system.