Clinical evaluation of biomarkers in Gaucher disease

Acta Paediatrica, International Journal of Paediatrics, Supplement

Volumn 94, Issue 447, 2005, Pages 47-50

  Deegan, P B ^a,b   Cox, T M ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

Biomarker; Gaucher disease; Lysosomal storage diseases; Pulmonary and activation regulated chemokine

Indexed keywords

BIOLOGICAL MARKER; CHEMOKINE; CHITOTRIOSIDASE; DIPEPTIDYL CARBOXYPEPTIDASE; ENZYME; MIGLUSTAT; PULMONARY AND ACTIVATION REGULATED CHEMOKINE; UNCLASSIFIED DRUG; ACID PHOSPHATASE; BIOCHEMICAL MARKER; CHITINASE; GLUCOSYLCERAMIDASE; HORSERADISH PEROXIDASE; MONOCLONAL ANTIBODY; ORPHAN DRUG; POLYCLONAL ANTIBODY; PROTEIN PARC; STREPTAVIDIN;

CLINICAL EXAMINATION; CONCENTRATION (PARAMETERS); CONFERENCE PAPER; CORRELATION ANALYSIS; DISEASE MARKER; DISEASE SEVERITY; DOSE RESPONSE; ENZYME ACTIVITY; ENZYME REPLACEMENT; GAUCHER DISEASE; GENETIC VARIABILITY; HUMAN; PRIORITY JOURNAL; RELIABILITY; ENZYME BLOOD LEVEL; TREATMENT RESPONSE;

ACID PHOSPHATASE; BIOLOGICAL MARKERS; CHEMOKINES, CC; GAUCHER DISEASE; HEXOSAMINIDASES; HUMANS; PLATELET COUNT; SPLEEN;

EID: 16844367872     PISSN: 08035326     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035320510028102     Document Type: Conference Paper

References (18)

1. Charrow J, Esplin JA, Gribble TJ, Kaplan P, Kolodny EH, Pastores GM, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 1998;158:1754-60.
2. Altarescu G, Schiffmann R, Parker CC, Moore DF, Kreps C, Brady RO, et al. Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease. Blood Cells Mol Dis 2000;26:285-90.
3. Elstein D, Abrahamov A, Hadas-Halpern I, Meyer A, Zimran A. Low-dose low-frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease. QJM 1998;91:483-8.
4. Hollak CE, Aerts JM, van Oers MH. Treatment of Gaucher's disease. N Engl J Med 1993;328:1565-6.
5. Mistry PK, Davies S, Corfield A, Dixon AK, Cox TM. Successful treatment of bone marrow failure in Gaucher's disease with low-dose modified glucocerebrosidase. QJM 1992;83:541-6.
6. Cox TM. Biomarkers in lysosomal storage diseases: a review. Acta Paediatr 2005;94(Suppl 447):39-42.
7. Hieshima K, Imai T, Baba M, Shoudai K, Ishizuka K, Nakagawa T, et al. A novel human CC chemokine PARC that is most homologous to macrophage-inflammatory protein-1 alpha/LD78 alpha and chemotactic for T lymphocytes, but not for monocytes. J Immunol 1997;159:1140-9.
8. Mrazek F, Sekerova V, Drabek J, Kolek V, du Bois RM, Petrek M. Expression of the chemokine PARC mRNA in bronchoalveolar cells of patients with sarcoidosis. Immunol Lett 2002;84:17-22.
9. Pardo A, Smith KM, Abrams J, Coffman R, Bustos M, McClanahan TK, et al. CCL18/DC-CK-1/PARC up-regulation in hypersensitivity pneumonitis. J Leukoc Biol 2001;70:610-6.
10. Goebeler M, Trautmann A, Voss A, Brocker EV, Toksoy A, Gillitzer R. Differential and sequential expression of multiple chemokines during elicitation of allergic contact hypersensitivity. Am J Pathol 2001;158:431-40.
11. Moran MT, Schofield JP, Hayman AR, Shi GP, Young E, Cox TM. Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood 2000;96:1969-78.
12. Boot RG, Verhoek M, de Fost M, Hollak CE, Maas M, Bleijlevens B, et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 2004;103:33-9.
13. Beutler E, Kuhl W, Matsumoto F, Pangalis G. Acid hydrolases in leukocytes and platelets of normal subjects and in patients with Gaucher's and Fabry's disease. J Exp Med 1976;143:975-80.
14. Tuchman LR, Suna H, Carr JJ. Elevation of serum acid phosphatase in Gaucher's disease. J Mt Sinai Hosp NY 1956;23:227-9.
15. Silverstein E, Friedland J. Elevated serum and spleen angiotensin converting enzyme and serum lysozyme in Gaucher's disease. Clin Chim Acta 1977;74:21-5.
16. 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;93:1288-92.
17. 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;273:25680-5.
18. 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 (Baltimore) 1992;71:337-53.