S.Ya. VOLGINA
Kazan State Medical University

Volgina Svetlana Yakovlevna
Doctor of Medical Science, Professor of Department of Hospital Pediatrics with courses of outpatient pediatrics and postgraduate education
75 Yamasheva avenue, apt.170, Kazan 420120
Tel. 8-904-671-16-59, e-mail: [email protected]

Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease. There are two forms of the disease — severe and impared form of the disease. The diagnosis of the last one is complex for pediatricians. MPS type I differs by significant variability of clinical symptoms and is a multi-disciplinary problem. Currently, there is a specific therapy MPS type I: hematopoetic stem cell transplantation and enzyme substitutional therapy. The algorithm of treating patients according to age and disease severity was developed. Long-term clinical outcomes, the effectiveness of therapy is monitored in the register for MPS. A systematic health evaluation of children with mucopolysaccharidosis type I improves their quality of life.

Key words: children, mucopolysaccharidosis type I, hematopoetic stem cell transplantation, enzyme replacement therapy (Laronidase).