Bone turnover markers in patients with type 1 Gaucher disease

Hematology Reports

Volumn 4, Issue 4, 2012, Pages 70-79

  Giuffrida, Gaetano ^a   Cingari, Maria Rocca ^a   Parrinello, Nunziatina ^a   Romano, Alessandra ^a   Triolo, Anna ^a   Franceschino, Magda ^a   Di Raimondo, Francesco ^a  

^a UNIVERSITY OF CATANIA   (Italy)

Author keywords

Biomarkers; Bone; Gaucher disease; Osteopenia

Indexed keywords

ACID PHOSPHATASE TARTRATE RESISTANT ISOENZYME; ALENDRONATE DISODIUM; ALENDRONIC ACID; ALGLUCERASE; ALKALINE PHOSPHATASE; AMINOTERMINAL PROPEPTIDE OF TYPE 1 PROCOLLAGEN; AMINOTERMINAL TELOPEPTIDE; BIOLOGICAL MARKER; BISPHOSPHONIC ACID DERIVATIVE; BONE SPECIFIC ALKALINE PHOSPHATASE; CALCITRIOL; CALCIUM; CALCIUM CARBONATE; CARBOXY TERMINAL PROPEPTIDE OF TYPE 1 PROCOLLAGEN; CARBOXY TERMINAL TELOPEPTIDE; CARBOXY TERMINAL TELOPEPTIDE OF TYPE 1 COLLAGEN; CATHEPSIN K; CREATINE; DEOXYPYRIDINOLINE; HYDROXYPROLINE; IMIGLUCERASE; OSTEOCALCIN; OSTEOCLAST DIFFERENTIATION FACTOR; OSTEOPROTEGERIN; PAMIDRONIC ACID; PLACEBO; PYRIDINOLINE; UNCLASSIFIED DRUG; UNINDEXED DRUG; VELAGLUCERASE ALFA; VITAMIN D;

ARTICLE; ASYMPTOMATIC DISEASE; AVASCULAR NECROSIS; BONE DENSITY; BONE DISEASE; BONE MASS; BONE NECROSIS; BONE PAIN; BONE TURNOVER; CELL FUNCTION; DISEASE EXACERBATION; DRUG MONITORING; DRUG RESPONSE; ENZYME REPLACEMENT; ERLENMEYER FLASK DEFORMITY; FRACTURE NONUNION; FRAGILITY FRACTURE; GAUCHER DISEASE; HUMAN; HYDROXYPROLINE URINE LEVEL; NUCLEAR MAGNETIC RESONANCE IMAGING; OSSIFICATION; OSTEOBLAST; OSTEOCLAST; OSTEOLYSIS; OSTEOPENIA; OSTEOPOROSIS; OSTEOSCLEROSIS; PATHOLOGIC FRACTURE; PATHOPHYSIOLOGY; SPLENECTOMY; SUBSTRATE REDUCTION THERAPY;

EID: 84875392024     PISSN: 20388322     EISSN: 20388330     Source Type: Journal    
DOI: 10.4081/hr.2012.e21     Document Type: Article

References (56)

1. Beaudet AL, Sly WS, Valle D. The metabolic and molecular basis of inherited diseases. New York: McGraw-Hill; 2001. pp. 3635-3668.
2. Weinreb N, Barranger J, Packman S, et al. Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet 2007; 71:576-88.
3. Vom Dahl S, Poll L, Di Rocco M, et al. Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients. Curr Med Res Opin 2006;22:1045-64.
4. Mistry PK, Weinreb NJ, Kaplan P, et al. Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults. Blood Cells Mol Dis 2011;46:66-72.
5. Grabowski GA, Barton NW, Pastores G, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannoseterminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 1995;122:33-9.
6. Weinreb NJ, Barranger JA, Charrow J, et al. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. Am J Hematol 2005;80:223-9.
7. Elstein D, Cohn GM, Wang N, et al. Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease. Blood Cells Mol Dis 2011;46:119-23.
8. Cox TM, Aerts JM, Belmatoug N, 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;31:319-36.
9. DeMayo RF, Haims AH, McRae MC, et al. Correlation of MRI-based bone marrow burden score with genotype and spleen status in Gaucher's disease. AJR Am J Roentgenol 2008;191:115-23.
10. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004; 41Suppl5:4-14.
11. Wenstrup RJ, Kacena KA, Kaplan P, et al. Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. J Bone Min Res 2007;22:119-26.
12. Deegan PB, Pavlova E, Tindall J, et al. Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy. Medicine (Baltimore) 2011;90:52-60.
13. Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics 2008;122:1182-90.
14. Mistry PK, Deegan P, Vellodi A, et al. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. Br J Haematol 2009; 147:561-70.
15. Weinreb NJ, Aggio MC, Andersson HC, et al. International Collaborative Gaucher Group (ICGG). Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004,41Suppl5:15-22.
16. Campeau PM, Rafei M, Boivin MN, et al. Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. Blood 2009;114:3181-90.
17. Watts NB. Clinical utility of biochemical markers of bone remodeling. Clin Chem 1999;45:1359-68.
18. Sims NA, Walsh NC. Intercellular crosstalk among bone cells: new factors and pathways. Curr Osteoporos Rep 2012;2: 109-17.
19. Boyce BF, Xing L. Osteoclasts have multiple roles in bone in addition to bone resorption. Crit Rev Eukaryot Gene Expr 2009;19:171-80.
20. Kearns AE, Khosla S, Kostenuik PJ. Receptor activator of nuclear factor kappaB ligand and osteoprotegerin regulation of bone remodeling in health and disease. Endocr Rev 2008;29:155-92.
21. Magal I, Lebel E, Altarescu G, et al. Serum levels of osteoprotegerin and osteoprotegerin polymorphisms in Gaucher disease. Br J Haematol 2006;133:93-7.
22. Vega D, Maalouf NM, Sakhaee K. Clinical Review: the role of receptor activator of nuclear factor-kappaB (RANK)/RANK ligand/ osteoprotegerin: clinical implications. J Clin Endocrinol Metab 2007;92:4514-21.
23. Hamdy NA. Targeting the RANK/RANKL/ OPG signaling pathway: a novel approach in the management of osteoporosis. Curr Opin Investig Drugs 2007,8:299-303.
24. Scott LJ, Muir VJ. Denosumab: in the prevention of skeletal-related events in patients with bone metastases from solid tumors. Drugs 2011;28:1059-69.
25. Singer FR, Eyre DR. Using biochemical markers of bone turnover in clinical practice. Cleve Clin J Med 2008;75:739-50.
26. Delmas PD, Hardy P, Garnero P, Dain M. Monitoring individual response to hormone replacement therapy with bone markers. Bone 2000;26:553-60.
27. Peris P, Alvarez L, Vidal S, et al. Treatment with tiludronate has a similar effect to risedronate on Paget's disease activity assessed by bone markers and bone scintigraphy. Clin Exp Rheumatol 2007;25: 206-10.
28. Karsdal MA, Schett G, Emery P, et al. IL-6 receptor inhibition positively modulates bone balance in rheumatoid arthritis patients with an inadequate response to anti-tumor necrosis factor therapy: biochemical marker analysis of bonemetabolism in the tocilizumab RADIATE study (NCT00106522). Semin Arthritis Rheum 2012 Mar 5. [EPub ahead of print].
29. Boumans MJ, Thurlings RM, Yeo L, et al. Rituximab abrogates joint destruction in rheumatoid arthritis by inhibiting osteoclastogenesis. Ann Rheum Dis 2012;71:108-13.
30. Loftus LS, Edwards-Bennett S, Sokol GH. Systemic therapy for bone metastases. Cancer Control 2012;19:145-53.
31. Yoshino M, Watanabe Y, Tokunaga Y, et al. Roles of specific cytokines in bone remodeling and hematopoiesis in Gaucher disease. Pediatr Int 2007;49:959-65.
32. Stowens DW, Teitelbaum SL, Kahn AJ, Barranger JA. Skeletal complications of Gaucher disease. Medicine (Baltimore) 1985;64:310-22.
33. Drugan C, Jebeleanu G, Grigorescu-Sido P, et al. Biochemical markers of bone turnover as tools in the evaluation of skeletal involvement in patients with type 1 Gaucher disease. Blood Cells Mol Dis 2002;28:13-20.
34. Ciana G, Martini C, Leopaldi A, et al. Bone marker alterations in patients with type 1 Gaucher disease. Calcif Tissue Int 2003;72: 185-9.
35. van Dussen L, Lips P, Everts VE, et al. Markers of bone turnover in Gaucher disease: modeling the evolution of bone disease. J Clin Endocrinol Metab 2011;96: 2194-205.
36. Zimran A, Kay A, Gelbart T, et al. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore) 1992;71:337-53.
37. Hermann G, Pastores GM, Abdelwahab IF, Lorberboym AM. Gaucher disease: assess-ment of skeletal involvement and therapeutic responses to enzyme replacement. Skeletal Radiol 1997;26:687-96.
38. Ciana G, Addobbati R, Tamaro G, et al. Gaucher disease and bone: laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy. J Inherit Metab Dis 2005;28:723-32.
39. Sims KB, Pastores GM, Weinreb NJ, 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: 430-40.
40. Schiffmann R, Mankin H, Dambrosia JM, et al. Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy. Blood Cells Mol Dis 2002;28:288-96.
41. Mikosch P, Reed M, Baker R, et al. Changes of bone metabolism in seven patients with Gaucher disease treated consecutively with imiglucerase and miglustat. Calcif Tissue Int 2008;83:43-54.
42. Maas M, van Kuijk C, Stoker J, et al. Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to Dixon quantitative chemical shift MR imaging-initial experience. Radiology 2003;229:554-61.
43. Ciana G, Cuttini M, Bembi B. Short-term effects of pamidronate in patients with Gaucher's disease and severe skeletal involvement. NEJM 1997;337-712
44. Wenstrup RJ, Bailey L, Grabowski GA, et al. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood 2004;104: 1253-7.
45. Fiore CE, Barone R, Pennisi P, et al. Bone ultrasonometry, bone density, and turnover markers in type 1 Gaucher disease. J Bone Miner Metab 2002;20:34-8.
46. Rosen HN, Moses AC, Garber J, et al. Utility of biochemical markers of bone turnover in the follow-up of patients treated with bisphosphonates. Calcif Tissue Int 1998;63:363-8.
47. Weinstein RS, Roberson PK, Manolagas SC. Giant osteoclast formation and longterm oral bisphosphonate therapy. N Engl J Med 2009;360:53-62.
48. Cox TM. Gaucher disease: clinical profile and therapeutic developments. Biologics 2010;4:299-313.
49. Allen MJ, Myer BJ, Khokher AM, et al. Proinflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM 1997;90:19-25.
50. Lichtenstein M, Zimran A, Horowitz M. Cytokine mRNA in Gaucher disease. Blood Cells Mol Dis 1997;23:395-401.
51. Barak V, Acker M, Nisman B, et al. Cytokines in Gaucher's disease. Eur Cytokine Netw 1999;10:205-10.
52. de Fost M, van Noesel CJ, Aerts JM, et al. Persistent bone disease in adult type 1 Gaucher disease despite increasing doses of enzyme replacement therapy. Haematologica 2008;93:1119-20.
53. Redlich K, Smolen JS. Inflammatory bone loss: pathogenesis and therapeutic intervention. Nat Rev Drug Discov 2012;11: 234-50.
54. Panteghini M, Pagani F. Biological variation in bone-derived biochemical markers in serum. Scand J Clin Lab Invest 1995;55:609-16.
55. Schlemmer A, Hassager C, Jensen SB, Christiansen C. Marked diurnal variation in urinary excretion of pyridinium crosslinks in premenopausal women. J Clin Endocrinol Metab 1992;74:476-80.
56. Seibel MJ, Lang M, Geilenkeuser WJ. Interlaboratory variation of biochemical markers of bone turnover. Clin Chem 2001;47:1443-50.