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MUCOPOLYSACCHARIDOSIS TYPE II

Authors :
N.D. Vashakmadze
L.S. Namazova-Baranova
A.K. Gevorkyan
L.M. Kuzenkova
A.D. Khristochevskiy
L.M. Vysotskaya
A.S. Dadashev
Source :
Педиатрическая фармакология, Vol 8, Iss 3, Pp 66-68 (2011)
Publication Year :
2011
Publisher :
Union of pediatricians of Russia, 2011.

Abstract

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.

Details

Language :
Russian
ISSN :
17275776 and 25003089
Volume :
8
Issue :
3
Database :
Directory of Open Access Journals
Journal :
Педиатрическая фармакология
Publication Type :
Academic Journal
Accession number :
edsdoj.94e6f5f630bb433f8116ad3e53a6e49c
Document Type :
article