Mucopolysaccharidosis type II, Hunter's syndrome

Pediatric Endocrinology Reviews

Volumn 12, Issue , 2014, Pages 107-113

  Tylki Szymańska, Anna ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Clinical features treatment; Hunter syndrome; Mucopolysaccharidosis type II

Indexed keywords

CHAPERONE; DERMATAN SULFATE; IDURONATE 2 SULFATASE;

ARTHROPATHY; ARTICLE; BLOOD BRAIN BARRIER; BONE DISEASE; CARPAL TUNNEL SYNDROME; CELL COMMUNICATION; CELL SPECIFICITY; CERVICAL MYELOPATHY; CLINICAL CLASSIFICATION; CLINICAL FEATURE; ENZYME REPLACEMENT; EPIDEMIOLOGY; GASTROINTESTINAL DISEASE; GENE MUTATION; GENE THERAPY; GENETIC COUNSELING; GENETICS; HEARING DISORDER; HEARING IMPAIRMENT; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HOMOZYGOSITY; HUMAN; HUNTER SYNDROME; MICROENVIRONMENT; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PALLIATIVE THERAPY; PATHOGENESIS; PHENOTYPE; PSEUDOGENE; QUALITY OF LIFE; RANDOMIZED CONTROLLED TRIAL (TOPIC); RESPIRATORY TRACT DISEASE; SEX DIFFERENCE; VISUAL DISORDER; X CHROMOSOME ABERRATION; X CHROMOSOME INACTIVATION; PROGNOSIS; REVIEW;

ENZYME REPLACEMENT THERAPY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; IDURONATE SULFATASE; MUCOPOLYSACCHARIDOSIS II; PROGNOSIS;

EID: 84908257179     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (53)

1. Neufeld EF, Muenzer J: The mucopolysaccharidoses. In The metabolic and molecular bases of inherited disease. Edited by Scriver CR, Beaudet AL, 5ly WS, Valle D. New York: McGraw-Hill; 2001: :3421-3452
2. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, Kohlschutter A, Kampmann C, Beck M: Cumulative incidence rates of the mucopolysaccharidoses in Germany.J Inherit Metab Dis 2005, 28(6):1011-1017
3. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, Niezen-Koning KE, van Diggelen OP: The frequency of lysosomal storage diseases in The Netherlands.Hum Genet 1999, 105(1-2):151-156
4. Young ID, Harper PS, Newcombe RG, Archer IM. A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms. J Med Genet. 1982 Dec;19(6):408-411
5. Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, Meldgaard Lund A, Malm G, van der Ploeg AT, Zeman J: 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):267-277
6. 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 Mar;156(3):925-938
7. Simonaro CM. Cartilage and chondrocyte pathology in the mucopolysaccharidoses: The role of glycosaminoglycan-mediated inflammation.J Pediatr Rehabil Med. 2010;3(2):85-88
8. Scarpa M: Mucopolysaccharidosis type II. (http://www.ncbi.nlm.nih. gov/bookshelf/br.fcgi?book=gene&tpart=hunter) webcite, Gene Reviews 2011
9. Broadhead DM.Kirk JM.Burt AJ, Gupta V.Ellis PM.Besley GTN full expression of Hunters disease in a female with an X-chromosome deletion leading to nonrandom inactivation.Clinical Genetics 1986; 30(5):392-398
10. Clarke JT, Greer WL, Strasberg PM, Pearce RD, Skomorowski MA, Ray PN: Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the x chromosomes in a karyotypically normal girl. Am J Hum Genet 1991, 49(2):289-297
11. Kloska A, Jakobkiewicz-Banecka J, Tylki-Szymanska A, Czartoryska B, Wergrzyn G:Female Hunter syndrome caused by a single mutation and familial XCI skewing: implication for other X-linked disorders. Clin Genet. 2011;80(5):459-465
12. Rozdzynska A, Tylki-Szymanska A, Jurecka A, Cieslik J. Growth pattern and growth prediction of body height in children with mucopolysaccharidosis type II. Acta Paediatr. 2011, Mar;100(3):456-460
13. Martin R, Beck-M, Eng C, Giugliani R, Harmatz P, Munoz V, Muenzer J: Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome) Pediatrics 2008, 121(2):e377-386
14. Al Sawaf S, Mayatepek E; Hoffmann B: Neurological findings in Hunter disease: pathology and'possible therapeutic effects reviewed. J Inherit Metab Dis 2008, 31(4):473-480
15. Young ID, Harper PS, Archer IM, Newcombe RG. A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity.J Med Genet. 1982 Dec;19(6):401-407
16. Marucha J, Jurecka A, Syczewska M, Rózdzyńska-͆wiątkowska 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(4):ef83-188
17. Marucha J, Tylki-Szymanska A, Jakobkiewicz-Banecka J, Piotrowska E, Kloska A, Czartoryska B, Wʇrzyn G. Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT).Am J Med Genet A. 2011 155A(9):2257-2262
18. Thappa DM, Singh A, Jaisankar TJ, Rao R, Ratnakar C: Pebbling of the skin: a marker of Hunter's syndrome. Pediatr Dermatol 1998, 15(5):370-373
19. Malinowska M, Jakobkiewicz-Banecka J, Kloska A, Tylki-Szymanska A, Czartoryska B, Piotrowska E, Wegrzyn A, Wegrzyn G.Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses.Eur J Pediatr. 2008 Feb;167(2):203-209
20. Schwartz IV, Ribeiro MG, Mota JG, Toralles MB, Correia P, Horovitz D, Santos ES, Monlleo IL, Fett-Conte AC, Sobrinho RP, et al.: A clinical study of 77 patients with mucopolysaccharidosis type II.Acta Paediatr 2007, 96(Suppl 455):63-70
21. Dangel JH: Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders: clinical and echocardiography findings in 64 patients. Eur J Pediatr 1998, 157(7):534-538
22. Kamin W: Diagnosis and management of respiratory involvement in Hunter syndrome. Acta Paediatr 2008, 97(Suppl 457):57-60
23. Leighton SE, Papsin B, Vellodi A, Dinwiddie R, Lane R: Disordered breathing during sleep in patients with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2001, 58(2):127138
24. Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP: Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2005, 69(5):589-595
25. Walker RW, Darowski M, Morris P, Wraith JE: Anaesthesia and mucopolysaccharidoses. A review of airway problems in children. Anaesthesia 1994, 49(12):1078-1084
26. Wegrzyn G, Kurlenda J, Liberek A, Tylki-Szymanska A, Czartoryska B, Piotrowska E, Jakobkiewicz-Banecka J, Wegrzyn A. Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study. BMC Pediatr. 2005 May 9;5(1):9
27. Collins ML, Traboulsi El, Maumenee IH: Optic nerve head swelling and optic atrophy in the systemimucopolysaccharidoses. Ophthalmology 1990, 97(11):1445-1449
28. Ashworth JL, Biswas S, Wraith E, Lloyd IC: Mucopolysaccharidoses and the eye. Surv Ophthalmol 2006, 51(1):1-17.
29. Parsons VJ, Hughes DG, Wraith JE: Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II).Clin Radiol 1996, 51(10):719-723
30. O'Brien DP, Cowie RA, Wraith JE: Cervical decompression in mild mucopolysaccharidosis type II (Hunter syndrome). Childs Nerv Syst 1997, 13(2):87-90
31. Benson PF, Button LR, Fensom AH, Dean MF: Lumbar kyphosis in Hunter's disease (MPS II). Clin Genet 1979, 16(5):317-322
32. Van Meir N, De Smet L: Carpal tunnel syndrome in children. Acta Orthop Belg 2003;69(5):387-395
33. Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, et al.: Multidisciplinary management of Hunter syndrome. Pediatrics 2009, 124(6):e12281239
34. Ohta H, Nakamichi I, Aozasa K, Taniike M, et al.: Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation. Mol Genet Metab 2009, 98(3):255-263
35. Coppa GV, Gabrielli O, Zampini L, Pierani P, Giorgi PL, Jezequel AM, Orlandi F, Miniero R, Busca A, De Luca T, et al.: Bone marrow transplantation in Hunter syndrome (mucopolysaccharidosis type II): two-year follow-up of the first Italian patient and review of the literature. Pediatr Med Chir 1995, 17(3):227-235
36. Vellodi A, Young E, Cooper A, Lidchi V, Winchester B, Wraith JE: Long-term follow-up following bone marrow transplantation for Hunter disease. J Inherit Metab Dis 1999, 22(5):638-648
37. Guffon N, Bertrand Y, Forest I, Fouilhoux A, Froissart R: Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years. J Pediatr 2009, 154(5):733-737
38. Muenzer J, Wraith JE, Beck M, Giugliani R, Harmatz P, Eng CM, Vellodi A, Martin R, Ramaswami U, Gucsavas-Calikoglu M, et al.: A Phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome).Genet Med 2006, 8(8):465-473 a. h
39. Muenzer J, Gucsavas-Calikoglu M, McCandless SE, Schuetz TJ, Kimura A: A Phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab 2007, 90(3):329-337
40. Muenzer J, Beck M, Eng C, Giugliani R, Harmatz P, Martin R, Ramaswami U, Vellodi A, Wraith JE, Geary M, et al.: Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med 2011, 13(2):95-101
41. Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, Eto Y, Orii T: Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II).Mol Genet Metab 2010, 99(1):18-25
42. Jurecka A, Krumina Z, Zuber Z, Rózdzyńka-͆wiątkowska A, Kloska A, Czartoryska B, Tylki-Szymanska A. Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. Am J Med Genet A. 2012 Feb;158A(2):450-454
43. Tylki-Szymanska A, Jurecka A, Zuber Z, Rozdzynska A, Marucha J, Czartoryska B. Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up. Acta Paediatr. 2012 ;101(1):e 42-7
44. Dickson P: Novel treatments and future perspectives: outcomes of intrathecal drug delivery. Int J Clin Pharmacol Ther 2009, 47(Suppl 1):S124-127
45. Kloska A, Narajczyk M, Jakobkiewicz-Banecka J, Grynkiewicz G, Szeja W, Gabig-Ciminska M, Wegrzyn G. Synthetic gem'stein derivatives as modulators of glycosaminoglycan storage. J Transl Med. 2012 Jul 30;10:153. doi: 10.1186/1479-5876-10-153
46. Porto C, Cardone M, Fontana F, Rossi B, Tuzzi MR, Tarallo A, Barone MV, Andria G, Parenti G: The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther 2009, 17(6):964-971
47. Polito VA, Cosma MP. IDS crossing of the blood-brain barrier corrects CNS defects in MPS II mice. Am J Hum Genet. 2009;85(2):296-301
48. Friso A, Tomanin R, Salvalaio M, Scarpa M: Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. Br J Pharmacol 2010, 159(5):1082-1091
49. Kim KH, Dodsworth C, Paras A, Burton BK. High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system. Mol Genet Metab. 2013 Aug;109(4):382-5
50. Giugliani R, Hwu WL, Tylki-Szymanska A, Whiteman DA, PanoA. A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy.Genet Med. 2014 Jun;16(6):435-4151
51. Zuber Z, Rozdzynska-Swiatkowska A, Jurecka A, Tylki-Szymaiiska A. PLoS One. 2014 Jan 13;9(1):e85074. doi: 10.1371The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II. PLoS One. 2014 Jan 13;9(1):e85074
52. Jurecka A, Zuber Z, Opoka-Winiarska V, Wegrzyn G, Tylki-Szymaiiska A. Effect of rapid cessation of enzyme replacement therapy: a report of 5 cases and a review of the literature. Mol Genet Metab. 2012 Nov;107(3):508-512
53. Jurecka A, Malinova V, Tylki-Szymaiiska A Effect of rapid cessation of enzyme replacement therapy: a report of 5 more cases. Mol Genet Metab. 2014 Feb;111(2):212-213