Hunter's syndrome
Contents:
Description:
Hunter's disease (Hunter's syndrome) — one of forms of a mukopolisakharidoz, mukopolisakharidoz of the 2nd type (MPS II), a rare recessive Hstseplenny genetic disease.
Reasons of a syndrome of Hunter:
Hunter's syndrome results from deficit of a number of enzymes that leads to accumulation of belkovouglevodny complexes and fats in cells.
Symptoms of a syndrome of Hunter:
The disease is shown at early age (2 — 4 years) by a thickening of nostrils, lips, language, rigidity of joints, a growth inhibition. Up to two years note such signs as noisy breath (obstruction of upper respiratory tracts), repeated rhinitises, inguinal and umbilical hernias.
Timely diagnosis requires clinical inspection with definition of activity of enzyme iduronat-2-sulphatase (I2S, sulfo-iduronat sulphatase). Most often use laboratory screening test of GAG urine. External symptoms of a disease is emergence of rugged features (gargoilizm), there is a deep rough voice, there are frequent acute respiratory viral infections. Frequent symptoms of a disease is reinforced skin, a short neck, rare teeth.
The child with Hunter's syndrome
Treatment of a syndrome of Hunter:
The genetic nature of a disease causes huge difficulties in therapy. Now around the world there is only one drug which is really improving a condition of patients with a syndrome of Hunter. It is Elaprase, the drug developed by the pharmaceutical company Shire Human Genetic Therapies Inc., Cambridge, Massachusetts. Drug represents recombinant human iduronate-2-sulfatase enzyme.
Palliative treatment.
Now in view of lack of real methods of impact on a cause of illness symptomatic therapy is used.
