European Journal of Internal Medicine
Volume 21, Issue 2 , Pages 104-113 , April 2010

Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1

  • Paula Grigorescu-Sido

      Affiliations

    • 1st Pediatric Clinic, Center of Genetic Diseases, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj, Romania
    • Corresponding Author InformationCorresponding author. 1st Pediatric Clinic, National Center of Genetic Diseases, Iuliu Hatieganu University of Medicine and Pharmacy, Str. Motilor 68, Cluj, Romania. Tel./fax: +40 264 592446.
    • ,
  • Cristina Drugan

      Affiliations

    • Dept. of Biochemistry, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj, Romania
    • ,
  • Camelia AlKhzouz

      Affiliations

    • 1st Pediatric Clinic, Center of Genetic Diseases, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj, Romania
    • ,
  • Anca Zimmermann

      Affiliations

    • 1st Medical Clinic, Dept. of Endocrinology and Metabolic Diseases, Johannes Gutenberg University of Mainz, Germany
    • ,
  • Cristina Coldea

      Affiliations

    • 1st Pediatric Clinic, Center of Genetic Diseases, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj, Romania
    • ,
  • Carmen Denes

      Affiliations

    • 1st Pediatric Clinic, Center of Genetic Diseases, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj, Romania
    • ,
  • Mircea Dan Grigorescu

      Affiliations

    • Dept. of Human Genetics, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj, Romania
    • ,
  • Victoria Cret

      Affiliations

    • 1st Pediatric Clinic, Center of Genetic Diseases, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj, Romania
    • ,
  • Simona Bucerzan

      Affiliations

    • 1st Pediatric Clinic, Center of Genetic Diseases, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj, Romania

Received 22 July 2009 ,Revised 25 October 2009 ,Accepted 15 November 2009.

References 

  1. Beutler E, Grabowski G. Gaucher Disease. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The Metabolic and Molecular Bases of Inherited Disease. New York: Mc.Graw-Hill; 2001;p. 3635–3668
  2. Barnevaeld RA, Keijzer W, Tegelaers FP, Ginns EI, Geurts van Kessel A, Brady RO, et al. Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q23 of chromosome 1 using monoclonal antibodies. Hum. Genet. 1983;64:227–231
  3. Mehta A. Epidemiology and natural history of Gaucher's disease. Eur J Int Med. 2006;17:S2–S5
  4. Germain D. La maladie de Gaucher. Hématologie. 1999;5(6):480–493
  5. Stirnemann J, Caubel I, Belmatoug N. La maladie de Gaucher. Encyclopedie Orphanet 2004; http://www.orpha.net/data/patho/FR/fr-gaucher.pdf: 1–5.
  6. Meikle PJ, Fuller M, Hopwood JJ. Epidemiology and screening policy. In:  Futerman AM,  Zimran A editor. Gaucher Disease. Fl USA: CRC Press, Taylor and Francis Group; 2007;p. 321–340
  7. I.C.G.G: Gaucher Registry. Annual Report 2008.
  8. Peters SP, Coyle P, Glew RH. Differenciation of beta-glucocerebrosidase from beta-glucosidase in human tissues using sodium taurocholate. Arch Biochem Biophys. 1976;175:569–582
  9. Beutler E, Gelbart T, West C. The facile detection of the nt 1226 mutation of glucocerebrosidase dose by mismatched PCR. Clin Chim Acta. 1990;194(2–3):161–166
  10. Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, et al. Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations. Eur J Hum Genet. 2002;10:511–515
  11. Beutler E, Gelbart T, Kuhl W, Sorhe J, West C. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. Proc Natl Acad Sci USA. 1991;88:10544–10547
  12. Dahl N, Lagerström M, Erikson A, Pettersson U. Simplified detection of Nci mutation in Gaucher disease. Lancet. 1990;335:1589–1590
  13. Patlas M, Hadas-Halpern I, Abrahamov A, Zimran A, Elstein D. Repeat abdominal ultrasound evaluation of 100 patients with type I Guacher disease treated with enzyme replacement therapy for up to 7 years. Hematol J. 2002;3:17–20
  14. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J. Med. 2002;113:112–119
  15. Hollak CE, van Weely S, van Oers MH, Aerts JM. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 1994;93(3):1288–1292
  16. Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, et al. Gaucher disease. Clinical, laboratory, radiologic and genetic features of 53 patients. Medicine. 1992;71:337–353
  17. Simon G, Erdos M, Maródi L, Tóth J. Gaucher disease: importance of early diagnosis and therapy. Orv Hetil. 2008;149:743–750
  18. Levrat V, Forest I, Fouilhoux A, Guffon N. Gaucher disease in childhood. Rev Med Intern. 2007;28(Suppl 2):183–186
  19. Kawahara S, Kato A, Oshimi K, Ida H. Gaucher disease type 1 diagnosed at 63 years old presenting with thrombocytopenia. Rinsho Ketsueki. 2008;49:335–339
  20. Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(4 Suppl 5):4–14
  21. Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications. Am J Hum Genet. 1993;52:1094–1101
  22. Fairley C, Zimran A, Philips M, Cizmarik M, Yee J, Weinreb N, et al. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry. J Inherit Metab Dis. 2008;31:738–744
  23. Haratz D, Manny N, Raz I. Autoimmune hemolytic anemia in Gaucher's disease. Klin Wochenschr. 1990;68:94–95
  24. Ben Harosh-Katz M, Patlas M, Hadas-Halpern I, Zimran A, Elstein D. Increased prevalence of cholelithiasis in Gaucher disease: association with splenectomy but not with Gilbert syndrome. J Clin Gastroenterol. 2004;38:586–589
  25. de Fost M, Vom Dahl S, Weverling GJ, Brill N, Brett S, Häussinger D, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis. 2006;36:53–58
  26. Zimran A, Liphshitz I, Barchana M, Abrahamov A, Elstein D. Incidence of malignancies among patients with type 1 Gaucher disease from a single referral clinic. Blood Cells Mol Dis. 2005;34:197–200
  27. Landgren O, Turesson I, Gridley G, Caporaso NE. Risk of malignant disease among 1525 adult male US Veterans with Gaucher disease. Arch Intern.Med. 2007;167:1189–1194
  28. Rosenbloom BE, Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood. 2005;105:4569–4572
  29. Grigorescu-Sido P, Drugan C, Creţ V, Al-Khzouz C, Denes C, Coldea C, et al. Outcome of enzyme replacement therapy in patients with Gaucher disease type 1. The Romanian experience. J of Inherit Metab Dis. 2007;30:783–789
  30. Goldblatt J, Szer J, Fletcher JM, McGill J, Rowell JA, Wilson M. Enzyme replacement therapy for Gaucher disease in Australia. Intern Med J. 2005;35(3):156–161
  31. Schaison G, Caubel I, Belmatoug N, Billette de Villemeur T, Saudubray JM. French results of enzyme replacement therapy in Gaucher's disease. Bull Acad Natl Med. 2002;186:851–861
  32. Toth J, Szücs FZ, Benkö K, Marodi L. Enzyme replacement therapy in Gaucher disease: monitoring visceral and bone changes with MRI. Orv Hetil. 2003;144:749–755
  33. Duan YL, Zhang YH, Zang Y, Shi HP, Zhang WM, Hu YM. A retrospective study on enzyme replacement therapy in patients with Gaucher disease. Zhonghua Er Ke Za Zhi. 2006;44(9):653–656
  34. Chippington S, McHugh K, Vellodi A. Splenic nodules in paediatric Gaucher disease treated by enzyme replacement therapy. Pediatr Radiol. 2008;38(6):657–660
  35. Manolagas SC. Birth and death of bone cells: basic regulatory mechanisms and implications for the pathogenesis and treatment of osteoporosis. Endocr Rev. 2000;21:115–137
  36. Schiffmann R, Mankin H, Dambrosia JM, Xavier RJ, Krebs RJ, Hill SC, et al. Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy. Blood Cells Mol Dis. 2002;28(2):288–296
  37. Ida H, Rennert OM, Ito T, Maekawa K, Eto Y. Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients. Blood Cells Mol Dis. 1998;24(1):73–81
  38. Vom Dahl S, Poll L, Di Rocco M, Ciana G, Denes C, Mariani G, et al. Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients. Curr Med Res Opin. 2006;22(6):1045–1064
  39. Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenblum BE, Packman S, et al. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet. 2008;73(5):430–440
  40. Wenstrup RJ, Kacena KA, Kaplan P, Pastores GM, Prakash-Cheng A, Zimran A, et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res. 2007;22(1):119–126
  41. de Fost M, Hollak C, Groener Aerts JM, Maas M, Poll LW, et al. Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis. Blood. 2006;108(3):830–835
  42. Maas M, Poll LW Terk MR. Imaging and quantifying skeletal involvement in Gaucher disease. Br J Radiol. 2002;75(Suppl 1):A13–A24
  43. Cox TM, Aerts JM, Belmatoug N, Capellini MD, vom Dahl S, Goldblatt J, et al. Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherit Metab Dis. 2008;31(3):319–336
  44. Aerts JM, Hollak CE. Plasma and metabolic abnormalities in Gaucher's disease. Baillieres Clin Haematol. 1997;10:691–709
  45. Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, et al. International Collaborative Gaucher Group (ICGG) Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol. 2004;41(4Suppl5):15–22
  46. Vellodi A, Foo Y, Cole TJ. Evaluation of three biochemical markers in the monitoring of Gaucher disease. J Inherit Metab Dis. 2005;28(4):585–592
  47. Boot RG, Renkema GH, Verhoek M, Strijland A, Bliek J, de Meulemeester TM, et al. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem. 1998;273(49):25680–25685

PII: S0953-6205(09)00236-2

doi: 10.1016/j.ejim.2009.11.005

European Journal of Internal Medicine
Volume 21, Issue 2 , Pages 104-113 , April 2010

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