Clinical experience of replacing enzyme replacement therapy in a patient with mucopolysaccharidosis type II
- Authors: Kuzenkova L.M. 1,2, Podkletnova T.V. 1, Pak L.A. 1, Ereshko O.A. 1
- Affiliations:
- National Medical Research Center for Children's Health
- I.M. Sechenov First Moscow State Medical University ( Sechenov University)
- Issue: Vol 1, No 4 (2020)
- Pages: 242-247
- Section: Clinical case reports
- URL: https://journals.eco-vector.com/2686-8997/article/view/56937
- DOI: https://doi.org/10.17816/2686-8997-2020-1-4-242-247
- Cite item
Abstract
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an inherited chronic progressive lysosomal disease associated with recessive X-linked inheritance. MPS II is classified as an orphan disease and occurs at a rate of 1.3 per 100,000 white boys. Hunter syndrome is the most common type of mucopolysaccharidosis, accounting for about 50% of MPS types. The disease’s pathogenesis is based on a violation of the stepwise cleavage of glycosaminoglycans (GAG) — heparansulfate and dermatansulfate caused by a deficiency of the iduronate-2-sulfatase enzyme encoded by the IDS gene. The existing deficiency or complete absence of iduronate-2-sulfatase leads to a violation of the final stage of glycosaminoglycan catabolism and the accumulation heparansulfate and dermatansulfate in all organs and tissues. Currently, there are two drugs registered in the Russian Federation for pathogenetic enzyme replacement therapy of MPS: idursulfase and idursulfase beta. This refers to the expansion of the therapeutic options for Hunter syndrome patients in the event of severe adverse events. It allows choosing the treatment regimen that will be optimal for the patient and will significantly improve the quality of life. In this article, the authors share their own experience of changing enzyme replacement therapy in an MPS II child patient.
Full Text

About the authors
Lyudmila M. Kuzenkova
National Medical Research Center for Children's Health; I.M. Sechenov First Moscow State Medical University ( Sechenov University)
Email: lolitap@mail.ru
Russian Federation, Moscow
Tatyana V. Podkletnova
National Medical Research Center for Children's Health
Email: lolitap@mail.ru
Russian Federation, Moscow
Lale A. Pak
National Medical Research Center for Children's Health
Author for correspondence.
Email: lolitap@mail.ru
Russian Federation, Moscow
MD, Ph.D., DSci., head of the Center for rare diseases
Oksana A. Ereshko
National Medical Research Center for Children's Health
Email: lolitap@mail.ru
Russian Federation, Moscow
References
- Gould H.J., Sutton B.J. IgE in allergy and asthma today. Nat. Rev. Immunol. 2008; 8(3): 205–17. https://doi.org/10.1038/nri2273
- Wraith J.E., Scarpa M., Beck M., Bodamer O.A., De Meirleir L., Guffon N., et al. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur. J. Pediatr. 2008; 167(3): 267–77. https://doi.org/10.1007/s00431-007-0635-4
- Kim C., Seo J., Chung Y., Ji H.J., Lee J., Sohn J., et al. Comparative study of idursulfase beta and idursulfase in vitro and in vivo. J. Hum. Genet. 2017; 62(2): 167–74. https://doi.org/10.1038/jhg.2016.133
- de Silva E.M.K., Strufidi M.W.L., Andriolo R.B., Silva L.A. Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome). Cochrane Database Syst. Rev. 2016; 2(2): CD008185. https://doi.org/10.1002/14651858.cd008185.pub4
- Motas S., Haurigot V., Garsia M., Marcob S., Ribera A., Roca C., et al. CNS – directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome). JCI Insight. 2016; 1(9): e86696. https://doi.org/10.1172/jci.insight.86696
- Hamilton R.G., MacGlashan D.W., Saini S.S. IgE antibody-specific activity in human allergic disease. Immunol. Res. 2010; 47(1-3): 273–84. https://doi.org/10.1007/s12026-009-8160-3
- Sawamoto K., Stapleton M., Alméciga-Díaz C.J., Espejo-Mojica A.J., Losada J.C., Suarez D.A., et al. Therapeutic options for mucopolysaccharidoses: current and emerging treatments. Drugs. 2019; 79(10): 1103–34. https://doi.org/10.1007/s40265-019-01147-4
- Kim J., Park M.R., Kim D.S., Lee J.O., Maeng S.H., Cho S.Y., et al. IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome. Allergy. 2013; 68(6): 796–802. https://doi.org/10.1111/all.12155
- Dullaers M., De Bruyne R., Ramadani F., Gould H.J., Gevaert P., Lambrecht B.N. The who, where, and when of IgE in allergic airway disease. J. Allergy Clin. Immunol. 2012; 129(3): 635–45. https://doi.org/10.1016/j.jaci.2011.10.029
- Galli S.J., Tsai M. IgE and mast cells in allergic disease. Nat. Med. 2012; 18(5): 693–704. https://doi.org/10.1038/nm.2755
- Kraft S., Kinet J.P. New developments in FcepsilonRI regulation, function and inhibition. Nat. Rev. Immunol. 2007; 7(5): 365–78. https://doi.org/10.1038/nri2072
- Oettgen H.C. Fifty years later: Emerging functions of IgE antibodies in host defense, immune regulation, and allergic diseases. J. Allergy Clin. Immunol. 2016; 137(6): 1631–45. https://doi.org/10.1016/j.jaci.2016.04.009
- Kim J., Park M.R., Kim D.S., Lee J.O., Maeng S.H., Cho S.Y., et al. IgE-mediated anaphylaxis and allergic reactions to idursulfase in patients with Hunter syndrome. Allergy. 2013; 68(6): 796–802. https://doi.org/10.1111/all.12155
Supplementary files
Supplementary Files | Action | ||
1. | Download (198KB) | Indexing metadata | |
2. | Download (97KB) | Indexing metadata |