Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease

Autor: Timothy M. Cox, J. Paul Schofield, Ian G. McFarlane, Patrick Deegan, Mary Teresa Moran, Rolf G. Boot, Johannes M. F. G. Aerts
Přispěvatelé: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, ACS - Amsterdam Cardiovascular Sciences
Jazyk: angličtina
Rok vydání: 2005
Předmět:
Zdroj: Blood cells, molecules & diseases, 35(2), 259-267. Academic Press Inc.
ISSN: 1079-9796
DOI: 10.1016/j.bcmd.2005.05.005
Popis: Purpose: Gaucher disease is an exemplary orphan disorder. Enzyme replacement therapy with imiglucerase is effective, but very expensive. To improve the assessment of severity of disease and responses to this costly treatment, we have evaluated several enzymatic biomarkers and a newly-described chemokine. Subjects and methods: We studied 48 untreated adults with Type I Gaucher disease: 20 patients were studied after the introduction of enzyme replacement. Disease activity was monitored by serial measurement of platelet count, visceral volumes (spleen and liver) by magnetic resonance imaging, serum activities of total acid phosphatase, angiotensin-converting enzyme (ACE) and the lysosomal chitinase, chitotriosidase. Pulmonary and activation-regulated chemokine (PARC/CCL 18) was also determined in serurn by ELISA. Results: Serum PARC concentrations were elevated 10-40-fold in patients with Gaucher disease compared with 67 healthy controls, without overlap (P
Databáze: OpenAIRE