A case of mucopolysaccharidosis type IV?

summary

This type is also known as morquio syndrome, osteochondral dystrophy, malformed chondral dystrophy and atypical rickets. The main features of the disease are short trunk, short stature, progressive changes of femoral head and acetabulum, swelling of joints and relaxation of muscles and ligaments. The disease is autosomal recessive inheritance. It can occur in both sexes. Male is slightly more than female.

A case of mucopolysaccharidosis type IV?

Generally in 4 to 5 years old because of walking difficulties and spinal deformity was found. Short stature is mainly due to shorter spine and relatively long limbs. When standing, hands can reach the knees. Swelling of the joints, especially in the wrist and knee, was spherical. But there was no ankylosis of type I and type II mucopolysaccharidosis. Genu varus, flatfoot, both knees and hips bending deformity, forming a squat position. Wrist, hand, ankle and toe joints are overactive due to muscle and ligament relaxation. All of them have special diagnostic significance. The intelligence is normal, the face changes to the bridge of the nose collapse, the distance between the two eyes widened, teeth irregular. Hepatosplenomegaly is rare. The onset age of corneal opacity is later than that of mucopolysaccharidosis type I, and obvious symptoms usually appear around 10 years old. Aortic valve insufficiency occurred mostly around 10 years old, and the incidence rate increased with age. However, most patients die before the age of 20.

The pathogenesis of this disease is: 1; It is chondroitin sulfate-n-acetylhexosamine sulfatase deficiency, and the mucopolysaccharide excreted in urine is mainly keratin sulfate. The gene was located on chromosome 3. In normal cells, the enzyme hydrolyzes n-acetylhexosamine-6-sulfate bond and also plays a role in the hydrolysis of 4-sulfate bond. The specificity of this enzyme for 6-sulphate bond occurs in keratin sulphate and chondroitin-6-sulphate. Therefore, when the enzyme is deficient, it can cause the two mucopolysaccharide components to deposit in tissue cells and cause cell dysfunction.

Homomucopolysaccharidosis type I. The patients with spinal curvature and thoracolumbar compression of spinal cord can be corrected by operation. Other symptoms can also be given corresponding symptomatic treatment.

matters needing attention

We should scientifically arrange staple food and non-staple food in diet. We should not only pay attention to staple food and despise non-staple food. Although staple food is the main source of blood glucose and should be controlled, some of the protein and fat in non-staple food can also become blood glucose and become the source of blood glucose. In metabolism, 58% of protein and 10% of fat turn into glucose. This kind of non-staple food is too much, can also make weight gain, adverse to the disease, therefore, in addition to reasonable control of staple food, non-staple food should also be reasonable collocation, otherwise still can not achieve the desired effect