In medicine, there are a number of rare diseases, including Hunter syndrome (type 2 mucopolysaccharidosis), which, for example, only about 50 people in Russia suffer from. The disease is genetic and spreads from mothers to boys. Throughout life, the mother may not know what is the carrier of the damaged gene. The probability of having a baby with a pathology in such women is 50%. But a random (sporadic) mutation in the genes of the fetus itself can occur, although the parents have no deviations.
Hunter disease, developmental mechanism
A thousand different metabolic processes take place in the human body, as a result of which "waste material" is brought out. With Hunter syndrome, the exchange of mucopolysaccharides (glycosaminoglycans) is disrupted, which are not excreted, but accumulate in all tissues. This is due to the fact that the enzyme iduronatesulfatase is missing. It is clear that in such conditions, organs and systems cease to function normally, and violations appear.
Hunter disease, clinical picture
Basically, symptoms begin to appear only after two to three years, children are born normal, and parents are not aware of their disease. Facial features become coarse, voice too, breathing becomes noisy, and the child begins to suffer from respiratory viral infections more and more often. The appearance of the boy is as follows: thick skin on his face, short neck, rare teeth, thickened lips, tongue and nostrils. All children with Hunter syndrome are so alike that they are mistaken for brothers.
After three or four years, it becomes difficult for the baby to walk, joints become stiff, he loses coordination, may fall. The entire skeletal system is undergoing changes.
Mental disturbances begin, the child can become touchy or aggressive. Some of the children stall. The skills that a child has acquired by his age are lost. He becomes helpless, stops talking.
In almost all patients, the heart is affected, the metabolic product accumulates in the valves, which leads to their thickening. In the teenage period, these changes are invisible, the onset of disturbances occurs in adulthood.
There are two varieties: Hunter’s disease A and B. In the first form, the symptoms progress quickly, mental retardation occurs, and the second form is milder when the child has intelligence. Depending on the type of disease , the life expectancy of such people can reach 50-60 years. However, with severe forms, children live up to 8-9 years.
Diagnosis of the disease
An ideal option for identifying hereditary pathologies is genetic research on the fetus. But there is no such screening, therefore it is impossible to exclude rare violations in advance.
In urine, patients find a large amount of heparan sulfate and dermatan.
X-ray picture of the skeletal system - multiple dysostosis (anomalies in the development of the skeleton).
Hunter disease treatment
The drug for the treatment of type 2 mucopolysaccharidosis has already been synthesized and is a missing enzyme. The tool is called "Elapraz." However, not all patients manage to get it; the drug is very expensive and is available only abroad.
The treatment of children with Hunter syndrome should be paid by the state, but authorities refuse them, since the annual cost per person is comparable to the budget allocated to provide an entire clinic. But the treatment of such children is life-long, it can be compared with diabetes mellitus therapy, when a person constantly needs insulin. Everyone knows that a diabetic will not survive without insulin for a long time, the same situation is with this pathology. Parents who still 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.