Prevention and treatment of mucopolysaccharidosis?

summary

Mucopolysaccharide storage disease is caused by the mutation of mucopolysaccharide degrading hydrolase in human cells, resulting in the loss of its activity. Mucopolysaccharide can not be degraded and metabolized, and finally stored in the body. So how many cases of mucopolysaccharidosis are there in China?

Prevention and treatment of mucopolysaccharidosis?

Urine mucopolysaccharide quantitation and electrophoresis were examined. For example, dermatan sulfate and heparin sulfate bands were found in type I and type II patients, heparin sulfate bands were found in type III patients, and keratin sulfate bands were found in type IV patients. The urine mucopolysaccharide electrophoresis of type III and type IV patients is prone to false negative phenomenon.

Due to the lack of iduronate sulphatase in the patient's body, the degradation of acid mucopolysaccharide is hindered. The gene of iduronate sulphatase is located in xq27.3-q28. Due to the lack of iduronate sulphatase, excessive mucopolysaccharide is deposited in tissue cells and excreted with urine. With the increase of mucopolysaccharide deposition in tissues and cells, dysfunction occurs.

The symptoms are large head, boat shaped head, prominent forehead, dense eyebrows, prominent eyes, swollen eyelids, low bridge of nose and upturned nostrils. The lips are large and thick; The tongue is large and easy to protrude. Gingival hyperplasia, small teeth and wide spacing. The skin is thick, the hair is thick and rough, and the hairline is low.

matters needing attention

According to the special clinical manifestations of the disease, combined with family history, X-ray examination and laboratory examination, the diagnosis can be made. So far, there is no good way to treat this disease, but the curative effect is not ideal. Enzyme replacement and gene therapy are being studied. High risk families need prenatal diagnosis to prevent the same family from being born with the disease again.