DOI QR코드

DOI QR Code

Joint Problems in Patients with Mucopolysaccharidosis Type II

  • Kim, Min-Sun (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Jiyeon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Noh, Eu Seon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Chiwoo (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Cho, Sung Yoon (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jin, Dong-Kyu (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2021.03.21
  • Accepted : 2021.04.30
  • Published : 2021.06.30

Abstract

Hunter syndrome or mucopolysaccharidosis type II (MPS-II) (OMIM 309900) is a rare lysosomal storage disorder caused by deficiency in the activity of the enzyme iduronate-2-sulfatase. This enzyme is responsible for the catabolism of the following two different glycosaminoglycans (GAGs): dermatan sulfate and heparan sulfate. The lysosomal accumulation of these GAG molecules results in cell, tissue, and organ dysfunction. Patients can be broadly classified as having one of the following two forms of MPS II: a severe form and an attenuated form. In the severe form of the disease, signs and symptoms (including neurological impairment) develop in early childhood, whereas in the attenuated form, signs and symptoms develop in adolescence or early adulthood, and patients do not experience significant cognitive impairment. The involvement of the skeletal-muscle system is because of essential accumulated GAGs in joints and connective tissue. MPS II has many clinical features and includes two recognized clinical entities (mild and severe) that represent two ends of a wide spectrum of clinical severities. However, enzyme replacement therapy is likely to have only a limited impact on bone and joint disease based on the results of MPS II studies. The aim of this study was to review the involvement of joints in MPS II.

Keywords

References

  1. Dorfman A, Matalon R. The mucopolysaccharidoses (a review). Proc Natl Acad Sci U S A 1976;73:630-7. https://doi.org/10.1073/pnas.73.2.630
  2. Froissart R, Moreira da Silva I, Guffon N, Bozon D, Maire I. Mucopolysaccharidosis type II--genotype/phenotype aspects. Acta Paediatr Suppl 2002;91:82-7.
  3. Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004;144:S27-34. https://doi.org/10.1016/j.jpeds.2004.01.052
  4. Mossman J, Blunt S, Stephens R, Jones EE, Pembrey M. Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene. Arch Dis Child 1983;58:911-5. https://doi.org/10.1136/adc.58.11.911
  5. Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA. Mucopolysaccharidosis type II in females: case report and review of literature. Pediatr Neurol 2005;32:270-2. https://doi.org/10.1016/j.pediatrneurol.2004.10.009
  6. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw Hill, 1995:2465-94.
  7. Schmitt HP. Changes in the voluntary muscles and the peripheral nerves in an autopsy case of MPS type II (Hunter). Neuropediatrics 1981;12:83-91. https://doi.org/10.1055/s-2008-1059642
  8. Young ID, Harper PS. The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. Dev Med Child Neurol 1983;25:481-9. https://doi.org/10.1111/j.1469-8749.1983.tb13794.x
  9. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw Hill, 2001.
  10. Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Munoz V, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics 2008;121:e377-86. https://doi.org/10.1542/peds.2007-1350
  11. Jones SA, Almassy Z, Beck M, Burt K, Clarke JT, Giugliani R, et al. Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis 2009;32:534-43. https://doi.org/10.1007/s10545-009-1119-7
  12. Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006;8:465-73. https://doi.org/10.1097/01.gim.0000232477.37660.fb
  13. Crawley AC, Niedzielski KH, Isaac EL, Davey RC, Byers S, Hopwood JJ. Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. J Clin Invest 1997;99:651-62. https://doi.org/10.1172/JCI119208
  14. Norrdin RW, Simske SJ, Gaarde S, Schwardt JD, Thrall MA. Bone changes in mucopolysaccharidosis VI in cats and the effects of bone marrow transplantation: mechanical testing of long bones. Bone 1995;17:485-9. https://doi.org/10.1016/8756-3282(95)00333-4
  15. Hinek A, Wilson SE. Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly. Am J Pathol 2000;156:925-38. https://doi.org/10.1016/S0002-9440(10)64961-9
  16. Pastores GM, Meere PA. Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). Curr Opin Rheumatol 2005;17:70-8. https://doi.org/10.1097/01.bor.0000147283.40529.13
  17. Simonaro CM, D'Angelo M, He X, Eliyahu E, Shtraizent N, Haskins ME, et al. Mechanism of glycosaminoglycan-mediated bone and joint disease: implications for the mucopolysaccharidoses and other connective tissue diseases. Am J Pathol 2008;172:112-22. https://doi.org/10.2353/ajpath.2008.070564
  18. Simonaro CM, D'Angelo M, Haskins ME, Schuchman EH. Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal models. Pediatr Res 2005;57:701-7. https://doi.org/10.1203/01.PDR.0000156510.96253.5A
  19. Simonaro CM, Ge Y, Eliyahu E, He X, Jepsen KJ, Schuchman EH. Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses. Proc Natl Acad Sci U S A 2010;107:222-7. https://doi.org/10.1073/pnas.0912937107
  20. Simonaro CM, Haskins ME, Schuchman EH. Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses. Lab Invest 2001;81:1319-28. https://doi.org/10.1038/labinvest.3780345
  21. MPS II-SGM-HCPA, Servic,o de Gene' tica Me' dica - Hospital de Clinicas de Porto Alegre RS, Brasil. Mucopolissacaridose II 2004:6.
  22. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54. https://doi.org/10.1001/jama.281.3.249
  23. Morini SR, Steiner CE, Gerson LB. Mucopolysaccharidosis type II: skeletal-muscle system involvement. J Pediatr Orthop B 2010;19:313-7. https://doi.org/10.1097/BPB.0b013e3283317b7a
  24. Link B, de Camargo Pinto LL, Giugliani R, Wraith JE, Guffon N, Eich E, et al. Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey. Orthop Rev (Pavia) 2010;2:e16.
  25. Wraith JE, Scarpa M, Beck M, Bodamer OA, 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;167:267-77. https://doi.org/10.1007/s00431-007-0635-4
  26. Marucha J, Jurecka A, Syczewska M, Rozdzynska-Swiatkowska A, Tylki-Szymanska A. Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status. Acta Paediatr 2012;101:e183-8. https://doi.org/10.1111/j.1651-2227.2011.02522.x
  27. Van Meir N, De Smet L. Carpal tunnel syndrome in children. Acta Orthop Belg 2003;69:387-95.
  28. Norman-Taylor F, Fixsen JA, Sharrard WJ. Hunter's syndrome as a cause of childhood carpal tunnel syndrome: a report of three cases. J Pediatr Orthop B 1995;4:106-9. https://doi.org/10.1097/01202412-199504010-00018
  29. Wraith JE, Alani SM. Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders. Arch Dis Child 1990;65:962-3. https://doi.org/10.1136/adc.65.9.962
  30. McArthur RG, Hayles AB, Gomez MR, Bianco AJ, Jr. Carpal tunnel syndrome and trigger finger in childhood. Am J Dis Child 1969;117:463-9.
  31. Miner ME, Schimke RN. Carpal tunnel syndrome in pediatric mucopolysaccharidoses. Report of four cases. J Neurosurg 1975;43:102-3. https://doi.org/10.3171/jns.1975.43.1.0102
  32. Bona I, Vial C, Brunet P, Couturier JC, Girard-Madoux M, Bady B, et al. Carpal tunnel syndrome in Mucopolysaccharidoses. A report of four cases in child. Electromyogr Clin Neurophysiol 1994;34:471-5.
  33. Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, et al. Multidisciplinary management of Hunter syndrome. Pediatrics 2009;124:e1228-39. https://doi.org/10.1542/peds.2008-0999
  34. Oniankitan O, Kakpovi K, Fianyo E, Tagbor KC, Houzou P, Koffi-Tessio V, et al. [Risk factors of hip osteoarthritis in Lome, Togo]. Med Trop (Mars) 2009;69:59-60.
  35. Sifuentes M, Doroshow R, Hoft R, Mason G, Walot I, Diament M, et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 2007;90:171-80. https://doi.org/10.1016/j.ymgme.2006.08.007
  36. Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, et al. Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 2001;344:182-8. https://doi.org/10.1056/NEJM200101183440304