MUCOPOLYSACCHARIDOSIS TYPE II
Article is devoted to one of the orphan diseases — mucopolysaccharidosis (MPS), which is the result of any lysosomal enzyme deficiency (which determines the type of illness). The most common is the MPS type II (Hunter syndrome), developing as a result of deficiency of the enzyme alpha-L-iduronosulph...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Union of pediatricians of Russia
2011-06-01
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| Series: | Педиатрическая фармакология |
| Online Access: | https://www.pedpharma.ru/jour/article/view/1273 |
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| Summary: | Article is devoted to one of the orphan diseases — mucopolysaccharidosis (MPS), which is the result of any lysosomal enzyme deficiency (which determines the type of illness). The most common is the MPS type II (Hunter syndrome), developing as a result of deficiency of the enzyme alpha-L-iduronosulphatsulphataze. The authors are observing the largest group of children with this pathology in the Russian population — 40 patients. On the example of their own clinical cases the only existing on the date the pathogenetic treatment is provided — replacement therapy with idursulphase that significantly improves the disease prognosis.Key words: MPS, types, Hunter syndrome, clinical course, diagnosis, treatment, prognosis, children. |
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| ISSN: | 1727-5776 2500-3089 |