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Tchan MC, Devine KT, Sillence DO. Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase. JIMD Rep. 2011;1:57-64doi: 10.1007/8904_2011_17.
Tchan, M. C., Devine, K. T., & Sillence, D. O. (2011). Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase. JIMD reports, 157-64. https://doi.org/10.1007/8904_2011_17
Tchan, Michel C, et al. "Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase." JIMD reports vol. 1 (2011): 57-64. doi: https://doi.org/10.1007/8904_2011_17
Tchan MC, Devine KT, Sillence DO. Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase. JIMD Rep. 2011;1:57-64. doi: 10.1007/8904_2011_17. Epub 2011 Jun 22. PMID: 23430829; PMCID: PMC3509811.
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JIMD Rep. 2011;1:57-64. doi: 10.1007/8904_2011_17. Epub 2011 Jun 22.

Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase.

JIMD reports

Michel C Tchan, Kerry T Devine, David O Sillence

Affiliations

  1. Department of Genetic Medicine, Westmead Hospital, Westmead, NSW, Australia, [email protected].

PMID: 23430829 PMCID: PMC3509811 DOI: 10.1007/8904_2011_17

Abstract

Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is a rare X-linked recessive disease of lysosomal glycosaminoglycan metabolism leading to a systemic storage disorder. We report three adult brothers (aged 46-52 years) with attenuated Hunter syndrome after 12 months of enzyme replacement therapy with idursulfase. Before enzyme replacement therapy, each had serious complications of their disease: in addition to all requiring urgent cervical spinal canal decompressions in middle age, one required emergency aortic and mitral valve surgery, another had stage IV airways disease, and the third had acute glaucoma resulting in unilateral blindness. One brother discontinued therapy after 12 months. The other two brothers reported subjective improvements in energy and exercise tolerance.

References

  1. Eye (Lond). 2006 May;20(5):553-63 - PubMed
  2. Br J Ophthalmol. 1989 Apr;73(4):305-8 - PubMed
  3. Mol Genet Metab. 2007 Mar;90(3):329-37 - PubMed
  4. Mol Genet Metab. 2010 Jan;99(1):18-25 - PubMed
  5. Arch Dis Child. 1982 Nov;57(11):828-36 - PubMed
  6. Genet Med. 2006 Aug;8(8):465-73 - PubMed
  7. Hum Genet. 1999 Jul-Aug;105(1-2):151-6 - PubMed
  8. Ophthalmology. 1985 Dec;92(12):1772-9 - PubMed
  9. Magn Reson Imaging. 1987;5(5):317-23 - PubMed
  10. Surv Ophthalmol. 2006 Jan-Feb;51(1):1-17 - PubMed
  11. Genet Med. 2008 Jul;10(7):508-16 - PubMed
  12. J Inherit Metab Dis. 2005;28(6):1011-7 - PubMed
  13. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S67-72 - PubMed
  14. Eur J Pediatr. 2008 Mar;167(3):267-77 - PubMed
  15. Clin Radiol. 1996 Oct;51(10):719-23 - PubMed
  16. Thyroid. 2010 Jul;20(7):715-25 - PubMed
  17. Drug Saf. 1998 Jun;18(6):431-40 - PubMed

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