Premium
CCL18: A urinary marker of Gaucher cell burden in Gaucher patients
Author(s) -
Boot Rolf G.,
Verhoek Marri,
Langeveld Mirjam,
Renkema G. Herma,
Hollak Carla E. M.,
Weening Jan J.,
DonkerKoopman Wilma E.,
Groener Johanna E.,
Aerts Johannes M. F. G.
Publication year - 2006
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0318-8
Subject(s) - urinary system , medicine , human genetics , enzyme replacement therapy , ccl18 , pathology , biology , disease , genetics , inflammation , chemokine , gene
Glucosylceramide‐laden tissue macrophages in Gaucher patients secrete large quantities of chitotriosidase and CC chemokine ligand 18 (CCL18), resulting in markedly increased plasma levels. We have comparatively investigated the occurrence of both parameters in plasma and urine samples of Gaucher patients. Chitotriosidase was high in urine samples of some symptomatic patients, but elevations did not correlate with increased plasma concentrations. Urinary chitotriosidase was particularly high in a patient with severe kidney involvement and local storage cell infiltration. Urinary levels of CCL18 were also highly elevated in samples from Gaucher patients as compared to controls. The median value of the CCL18/creatinine ratio in urine samples of 31 Gaucher patients was 143.3 pg/μmol (range 32–551) and in those of 12 normal subjects was 4.1 pg/μmol (range 1.3–6.8). In sharp contrast to chitotriosidase, increases in the low‐molecular‐mass chemokine CCL18 in urine and plasma specimens of Gaucher patients correlated well. A correlation was also observed for reductions in urinary and plasma CCL18 following therapy. It is concluded that assessment of urinary CCL18 of Gaucher patients gives insight into the total body burden on Gaucher cells, whereas that of chitotriosidase does not. Urinary chitotriosidase appears rather to be a reflection of renal pathology.