Bone events and evolution of biologic markers in Gaucher disease before and during treatment

Arthritis Research and Therapy

Volumn 12, Issue 4, 2010, Pages

  Stirnemann, Jérôme ^a,b   Belmatoug, Nadia ^c   Vincent, Corine ^b   Fain, Olivier ^a   Fantin, Bruno ^c   Mentré, France ^b  

^a UNIVERSITÉ PARIS 13   (France)

^b INSERM   (France)

^c BEAUJON HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CHITOTRIOSIDASE; FERRITIN; ACID PHOSPHATASE; ACID PHOSPHATASE TARTRATE RESISTANT ISOENZYME; BETA N ACETYLHEXOSAMINIDASE; DIPEPTIDYL CARBOXYPEPTIDASE; GLUCOSYLCERAMIDASE; ISOENZYME; TARTRATE-RESISTANT ACID PHOSPHATASE;

ADOLESCENT; ADULT; ARTICLE; BONE DISEASE; CHILD; COHORT ANALYSIS; ENZYME REPLACEMENT; FEMALE; FERRITIN BLOOD LEVEL; GAUCHER DISEASE; GENOTYPE; HUMAN; KAPLAN MEIER METHOD; MAJOR CLINICAL STUDY; MALE; RETROSPECTIVE STUDY; SPLENECTOMY; THROMBOCYTE COUNT; DISEASE COURSE; FRACTURE; INFANT; METABOLISM; MIDDLE AGED; PREDICTIVE VALUE; PRESCHOOL CHILD;

ACID PHOSPHATASE; ADOLESCENT; ADULT; BIOLOGICAL MARKERS; BONE DISEASES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DISEASE PROGRESSION; ENZYME REPLACEMENT THERAPY; FEMALE; FERRITINS; FRACTURES, BONE; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HEXOSAMINIDASES; HUMANS; INFANT; ISOENZYMES; KAPLAN-MEIER ESTIMATE; MALE; MIDDLE AGED; PEPTIDYL-DIPEPTIDASE A; PLATELET COUNT; PREDICTIVE VALUE OF TESTS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 77955287115     PISSN: 14786354     EISSN: 14786362     Source Type: Journal    
DOI: 10.1186/ar3111     Document Type: Article

References (32)

1. Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 1965, 18:221-225. 10.1016/0006-291X(65)90743-6, 14282020.
2. Christomanou H, Aignesberger A, Linke RP. Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant. Biol Chem Hoppe Seyler 1986, 367:879-890.
3. Qi X, Grabowski GA. Molecular and cell biology of acid beta-glucosidase and prosaposin. Prog Nucleic Acid Res Mol Biol 2001, 66:203-239. full_text, 11051765.
4. Mignot C, Doummar D, Maire I, de Villemeur TB. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev 2006, 28:39-48. 10.1016/j.braindev.2005.04.005, 16485335.
5. Beutler E. Gaucher disease. Arch Intern Med 1999, 159:881-882. 10.1001/archinte.159.8.881, 10219937.
6. Grabowski GA. Recent clinical progress in Gaucher disease. Curr Opin Pediatr 2005, 17:519-524. 10.1097/01.mop.0000172702.33128.19, 16012266.
7. Erikson A, Bembi B, Schiffmann R. Neuronopathic forms of Gaucher's disease. Baillieres Clin Haematol 1997, 10:711-723. 10.1016/S0950-3536(97)80035-2, 9497859.
8. Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S, Kaplan P, Mankin H, Xavier R, Angell J, Fitzpatrick MA, Rosenthal D. 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, 73:430-440. 10.1111/j.1399-0004.2008.00978.x, 2440418, 18312448.
9. 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, 93:1288-1292. 10.1172/JCI117084, 294082, 8132768.
10. Deegan PB, Moran MT, McFarlane I, Schofield JP, Boot RG, Aerts JM, Cox TM. Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis 2005, 35:259-267. 10.1016/j.bcmd.2005.05.005, 16125420.
11. Lieberman J, Beutler E. Elevation of serum angiotensin-converting enzyme in Gaucher's disease. N Engl J Med 1976, 294:1442-1444. 10.1056/NEJM197606242942609, 179000.
12. Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, Beutler E. Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine (Baltimore) 1992, 71:337-353. 10.1097/00005792-199211000-00002, 1435229.
13. Beutler E. Gaucher disease. Blood Rev 1988, 2:59-70. 10.1016/0268-960X(88)90009-4, 3289655.
14. Morgan MA, Hoffbrand AV, Laulicht M, Luck W, Knowles S. Serum ferritin concentration in Gaucher's disease. Br Med J (Clin Res Ed) 1983, 286:1864. 10.1136/bmj.286.6381.1864, 1547745, 6407607.
15. Tuchman LR, Suna H, Carr JJ. Elevation of serum acid phosphatase in Gaucher's disease. J Mt Sinai Hosp N Y 1956, 23:227-229.
16. Troy K, Cuttner J, Reilly M, Grabowski G, Desnick R. Tartrate-resistant acid phosphatase staining of monocytes in Gaucher disease. Am J Hematol 1985, 19:237-244. 10.1002/ajh.2830190305, 4014224.
17. Cabrera-Salazar MA, O'Rourke E, Henderson N, Wessel H, Barranger JA. Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy. Clin Chim Acta 2004, 344:101-107. 10.1016/j.cccn.2004.02.018, 15149877.
18. Aerts JM, van Breemen MJ, Bussink AP, Ghauharali K, Sprenger R, Boot RG, Groener JE, Hollak CE, Maas M, Smit S, Hoefsloot HC, Smilde AK, Vissers JP, de Jong S, Speijer D, de Koster CG. Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease. Acta Paediatr Suppl 2008, 97:7-14. 10.1111/j.1651-2227.2007.00641.x, 18339181.
19. Poll LW, Koch JA, Willers R, Aerts H, Scherer A, Haussinger D, Modder U, vom Dahl S. Correlation of bone marrow response with hematological, biochemical, and visceral responses to enzyme replacement therapy of nonneuronopathic (type 1) Gaucher disease in 30 adult patients. Blood Cells Mol Dis 2002, 28:209-220. 10.1006/bcmd.2002.0511, 12064917.
20. Weinreb NJ, Aggio MC, Andersson HC, Andria G, Charrow J, Clarke JT, Erikson A, Giraldo P, Goldblatt J, Hollak C, Ida H, Kaplan P, Kolodny EH, Mistry P, Pastores GM, Pires R, Prakash-Cheng A, Rosenbloom BE, Scott CR, Sobreira E, Tylki-Szymanska A, Vellodi A, vom Dahl S, Wappner RS, Zimran A. Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients. Semin Hematol 2004, 41(Suppl 5):15-22. 10.1053/j.seminhematol.2004.07.010, 15468046.
21. Bonnet F, Thiebaut R, Chene G, Neau D, Pellegrin JL, Mercié P, Beylot J, Dabis F, Salamon R, Morlat P. Determinants of clinical progression in antiretroviral-naive HIV-infected patients starting highly active antiretroviral therapy. Aquitaine Cohort, France, 1996-2002. HIV Med 2005, 6:198-205. 10.1111/j.1468-1293.2005.00290.x, 15876287.
22. Post TM, Freijer JI, DeJongh J, Danhof M. Disease system analysis: basic disease progression models in degenerative disease. Pharm Res 2005, 22:1038-1049. 10.1007/s11095-005-5641-5, 16028004.
23. de Winter W, de Jongh J, Post T, Ploeger B, Urquhart R, Moules I, Eckland D, Danhof M. A mechanism-based disease progression model for comparison of long-term effects of pioglitazone, metformin and gliclazide on disease processes underlying type 2 diabetes mellitus. J Pharmacokinet Pharmacodyn 2006, 33:313-343. 10.1007/s10928-006-9008-2, 16552630.
24. Vellodi A, Foo Y, Cole TJ. Evaluation of three biochemical markers in the monitoring of Gaucher disease. J Inherit Metab Dis 2005, 28:585-592. 10.1007/s10545-005-0585-9, 15902562.
25. Czartoryska B, Tylki-Szymanska A, Gorska D. Serum chitotriosidase activity in Gaucher patients on enzyme replacement therapy (ERT). Clin Biochem 1998, 31:417-420. 10.1016/S0009-9120(98)00030-7, 9721443.
26. Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med 2009, 11:92-100. 10.1097/GIM.0b013e31818e2c19, 19265748.
27. National Diagnosis and Treatment Protocol for Gaucher Disease. , http://www.has-sante.fr/portail/jcms/c_644042/gaucher-disease-nationa-diagnosis-and-treatment-protocol
28. Daniels LB, Glew RH. Beta-glucosidase assays in the diagnosis of Gaucher's disease. Clin Chem 1982, 28:569-577.
29. Aerts JM, Hollak CE. Plasma and metabolic abnormalities in Gaucher's disease. Baillieres Clin Haematol 1997, 10:691-709. 10.1016/S0950-3536(97)80034-0, 9497858.
30. Charrow J, Dulisse B, Grabowski GA, Weinreb NJ. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet 2007, 71:205-211. 10.1111/j.1399-0004.2007.00769.x, 17309642.
31. Mistry PK, Deegan P, Vellodi A, Cole JA, Yeh M, Weinreb NJ. Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis. Br J Haematol 2009, 147:561-570. 10.1111/j.1365-2141.2009.07872.x, 2774157, 19732054.
32. Magalhaes J, Pinto R, Lemos M, Sa Miranda MC, Poenaru L. Age dependency of serum acid phosphatase in controls and Gaucher patients. Enzyme 1984, 32:95-99.