Lysosomal storage diseases;Lysosomale Speicherkrankheiten

Zeitschrift fur Rheumatologie

Volumn 69, Issue 6, 2010, Pages 527-538

  Manger, B ^a  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Fabry's disease; Gaucher's disease; Mucopolysaccharidoses; Musculoskeletal system

Indexed keywords

AGALSIDASE BETA; ALPHA GLUCOSIDASE; IMIGLUCERASE; LARONIDASE; LYSOSOME ENZYME;

CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; EARLY DIAGNOSIS; ENZYME ACTIVITY; ENZYME REPLACEMENT; GAUCHER DISEASE; GLYCOGEN STORAGE DISEASE TYPE 2; HELP SEEKING BEHAVIOR; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; LIPIDOSIS; LYSOSOME STORAGE DISEASE; MENTAL DEFICIENCY; MORQUIO SYNDROME; MUCOLIPIDOSIS; MUCOPOLYSACCHARIDOSIS; PHENOTYPE; PREVALENCE; QUALITY OF LIFE; REVIEW; SANFILIPPO SYNDROME; SCHEIE SYNDROME; SYMPTOM; TREATMENT OUTCOME;

ADOLESCENT; ADULT; CHILD; COOPERATIVE BEHAVIOR; DIAGNOSIS, DIFFERENTIAL; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; GAUCHER DISEASE; GLYCOGEN STORAGE DISEASE; HUMANS; INTERDISCIPLINARY COMMUNICATION; LYSOSOMAL STORAGE DISEASES; MUCOLIPIDOSES; MUCOPOLYSACCHARIDOSES; PHENOTYPE; RARE DISEASES; SPHINGOLIPIDOSES; YOUNG ADULT;

EID: 77956343827     PISSN: 03401855     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00393-010-0627-z     Document Type: Review

References (30)

1. http://www.ec.europa.eu/health/ph-information/documents/ ev20040705-rd05-en.pdf vom 12.1.2010
2. Decker JL (1983) American Rheumatism Association nomenclature and classification of arthritis and rheumatism. Arthritis Rheum 26:1029-1032
3. Manger K, Nüsslein H, Schett G, Manger B (2009) Rare monogenetic syndromes in rheumatology practice. Clin Rheumatol 28:623-630
4. http://www.merck.com/media/mmpe/pdf/Table-296-4w.pdf vom 12.1.2010
5. Aldenhoven M, Sakkers RJB, Boelens J et al (2009) Muskuloskelettal manifestations of lysosomal storage disorders. Ann Rheum Dis 68:1659-1665
6. Cimaz R, Coppa GV, Koné-Paut I et al (2009) Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J 7:18
7. Manger B (2008) Rheumatological manifestations are key in the early diagnosis of mucopolysaccaridosis type I. Europ Musculoskel Rev 3:23-26
8. Hurler G (1919) Über einen Typ multipler Abartungen, vorwiegend am Skelettsystem. Z Kinderheilk 24:220-234
9. Scheie H, Hambrick G, Barnes L (1962) A newly recognized forme fruste of Hurlers disease (gargoylism). Am J Ophthalmol 53:753-769
10. Pastores GM, Arn Beck M et al (2007) The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with mucopolysaccharidosis type I. Mol Genet Metab 91:37-47
11. Vijay S, Wraith JE (2005) Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr 94:872-877
12. Cimaz R, Vijay S, Haase C et al (2006) Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. Clin Exp Rheumatol 24:196-202
13. Van Meir, Smet L de (2003) Carpal tunnel syndrome in children. Acta Orthop Belg 69:387-395
14. Matsui Y, Kawabata H, Nakayama M et al (2003) Scheie syndrome (MPS-IS) presented as bilateral trigger thumb. Pediatr Int 45:91-92
15. Wraith JE, Clarke LA, Beck M et al (2004) Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 144:581-588
16. Sifuentes M, Doroshow R, Hoft R (2007) A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 90:171-180
17. Michels H, Mengel E (2008) Lysosomal storage diseases as differential diagnoses to rheumatic disorders. Curr Opin Rheumatol 20:76-81
18. Mehta A, Ricci R, Widmer U et al (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34:236-242
19. Manger B, Mengel E, Schaefer R et al (2006) M. Gaucher, M. Fabry und Mukopolysaccharidose Typ I. Z Rheumatol 65:32-43
20. Clarke JT (2007) Narrative review: Fabry disease. Ann Intern Med 146:425-433
21. Reinhold-Keller E, Horneff G, Schäfer RM, Young P (2009) Differenzialdiagnose akraler Schmerzen: Junger Mann mit akralen Schmerzen, Fieberschüben und Hörverlust. Akt Rheum 34:126-131
22. Manger B, Mengel E, Schaefer RM (2007) Rheumatologic aspects of lysosomal storage diseases. Clin Rheumatol 26:355-1341
23. Eng CM, Fletcher J, Wilcox WR et al (2007) Fabry disease: baseline medical characteristics of a cohort of 1756 males and females in the Fabry Registry. J inherit Metab Dis 30:184-192
24. Schiffmann R, Koop JB, Austin HA III et al (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285:2743-2749
25. Eng CM, Guffon N, Wilcox WR et al (2001) Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabrys disease. N Engl J Med 345:9-16
26. Thurberg BL, Rennke H, Colvin RB et al (2002) Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 62:1933-1946
27. Weizman Z, Tennenbaum, Yatziv S (1982) Interphalangeal joint involvement in Gauchers disease, type I, resembling juvenile rheumatoid arthritis. Arthritis Rheum 25:706-707
28. Nüßlein HG, Huppertz HI, Massenkeil G, Mengel E (2009) Splenomegalie - ein wichtiges Leitsymptom. Akt Rheum 34:213-219
29. Weinreb NJ, CharrowJ, Andersson HC et al (2002) Effectiveness of enzyme replacement therapy in 1028 patients with type I Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 113:112-119
30. Mengel E, Manger B (2006) Erste Ergebnisse der Fortbildungsinitiative zur Erkennung von lysosomalen Speicherkrankheiten in der rheumatologischen Praxis. Akt Rheum 31:307-311