Hunter's disease is a rare genetic pathology

In medicine, there are a number of rare diseases, including Hunter syndrome (mucopolysaccharidosis type 2), which, for example, in Russia only about 50 people are sick. The disease is genetic and is transmitted from mothers to boys. Throughout life, a mother may not know that she is the carrier of a damaged gene. The probability of the birth of a baby with a pathology in such women is 50%. But there may be a random (sporadic) mutation in the fetus's genes, although the parents do not have abnormalities.

Hunter's disease, the mechanism of development

In the human body, a thousand different metabolic processes occur, as a result of which "waste material" is discharged outside. In Hunter's syndrome, the exchange of mucopolysaccharides (glycosaminoglycans), which are not excreted, accumulates in all tissues. This is due to the fact that there is no enzyme iduronate sulfatase. It is clear that in such conditions, organs and systems cease to function normally, violations appear.

Hunter's disease, clinical picture

In general, signs begin to appear only after two to three years, children are born normal, and parents do not know about their disease. The facial features become rough, the voice also, breathing becomes noisy, and the child begins to get more and more respiratory viral infections. The appearance of the boy is as follows: thick skin on the face, short neck, rare teeth, thickened lips, tongue and nostrils. All children with Hunter syndrome are so similar to each other that they are mistaken for brothers.

After three to four years, the child becomes difficult to walk, the joints become stiff, he loses coordination, can fall. The entire bone system undergoes changes.

Violations from the psyche begin, the child can become touchy or aggressive. Some of the children are deaf. Skills that the child has acquired for his years are lost. He becomes helpless, stops talking.

Almost all patients are affected by the heart, in the valves accumulates the metabolic product, which leads to their thickening. In the adolescent period, these changes are invisible, the onset of violations occurs in adulthood.

There are two varieties: Hunter A and B. In the first form, the symptoms progress rapidly, mental retardation occurs, and the second form is easier when the child retains the intellect. Depending on the type of disease , the life expectancy of such people can reach 50-60 years. However, with severe forms, children survive to 8-9 years.

Diagnosis of the disease

The ideal way to identify hereditary pathologies is the genetic examination of the fetus. But there is no such screening, therefore it is impossible to exclude rare infringements in advance.

In urine, patients have a large amount of heparan sulfate and dermatan.

Radiological picture of the osseous system - multiple dysostosis (skeletal abnormalities).

Hunter's disease, treatment

The drug for the treatment of type 2 mucopolysaccharidosis has already been synthesized and is the missing enzyme. The means of "Elapraz" is called. However, it can not be obtained by all patients, the drug is very expensive and is available only abroad.

Treatment of children with Hunter syndrome should be paid by the state, but authorities refuse them, as the annual expenditure per person is comparable with the budget allocated for providing the entire polyclinic. But the treatment of such children is lifelong, it can be compared with diabetes therapy, when a person constantly needs insulin. Everyone knows that without insulin, a diabetic will not live long, the same situation develops with this pathology. Parents who somehow manage to get the drug (sponsors, charity), note that the child is quickly recovering, begins to walk again and lead a more normal life.