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MUCOPOLYSACCHARIDOSIS TYPE II

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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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Bibliographic Details
Main Authors: N.D. Vashakmadze (Author), L.S. Namazova-Baranova (Author), A.K. Gevorkyan (Author), L.M. Kuzenkova (Author), A.D. Khristochevskiy (Author), L.M. Vysotskaya (Author), A.S. Dadashev (Author)
Format: Book
Published: Union of pediatricians of Russia, 2011-06-01T00:00:00Z.
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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.
Item Description:1727-5776
2500-3089

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