EFFECTIVENESS OF MODERN METHODS OF TREATING TYPE I MUCOPOLYSACCHARIDOSIS PATIENTS

Type I mucopolysaccharidosis (MPS) is a hereditary metabolic disease related to lysosomal storage diseases. Alpha-L-iduronidase enzyme deficiency leads to dissimilar disease phenotypes and varying severity of symptoms. Researchers distinguish between three phenotypes of the disease: Hurler syndrome (mucopolysaccharidosis IH — severe form), Scheie syndrome (mucopolysaccharidosis IS — mild form), Hurler-Scheie syndrome (mucopolysaccharidosis I H/S — moderate form). The article presents a case of Hurler syndrome affecting cardiac, musculoskeletal and nervous systems, as well as data on case follow-up and treatment of a child at a modern multiprofile inpatient hospital. The article demonstrates that unlike the only previously possible palliative treatment, modern methods of treatment, such as enzyme replacement therapy, transplantation of bone marrow stem cells, umbilical cord blood or peripheral sources of stem cells and orthopedic correction, are effective.

1. Ferrari S., Ponzin D., Ashworth J.L. et al. Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis. Br J Ophthalmol. 2011; 95: 613–619.

2. Lachman R., Martin K.W., Castro S., Basto M.A., Adams A., Teles E.L. Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2010; 3: 109–118.

3. Wraith J.E. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child. 1995; 72: 263–267. Doi: 10.1136/adc.72.3.263.

4. Prasad V.K., Kurtzberg J. Transplant outcomes in mucopolysaccharidoses. Semin Hematol. 2010; 47: 59−69.

5. Braunlin E.A., Stauffer N.R., Peters C.H. et al. Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol. 2003; 92: 882−6.

6. Wraith J.E., Beck M., Lane R. et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). Pediatrics. 2007; 120: e37−46.

7. Braunlin E.A., Berry J.M., Whitley C.B. Cardiac findings after enzyme replacement therapy for mucopolysaccharidosis type I. Am J Cardiol. 2006; 98: 416–418.

8. Vin Allonga X., Sanz N., Balaguer A., Miro L., Ortega J.J., Casaldaliga J. Hypetrophic cardiomyopathy in mucopolysaccharidoses: regression after bone marrow transplantation. Pediatr Cardiol. 1992; 13: 107–109.

9. Braunlin E.A., Stauffer N.R., Peters C.H. et al. Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol. 2003; 92: 882–886.