Abstract:
BACKGROUND:The poor phenotype/genotype correlation in Gaucher's disease makes difficult therapy-decision-making and prevention of complications. Gaucher's cells and tissue fibrosis are the earliest findings of the disease. Transforming growth factor ss (TGF-beta1) is the key cytokine involved in the regulation of tissular scarring and fibrosis. The aim of the study was to ascertain if there are differences in plasma TGF-beta1 between Gaucher's disease patients, carriers and non-carriers healthy people and whether there is any correlation between plasma TGF-beta1 and clinical phenotype among patients. PATIENTS AND METHOD:Plasma TGF-beta1 was measured in 11 patients with Gaucher's disease, 12 carriers and 10 healthy people. Patients were further evaluated to know their liver and spleen size, bone involvement, hemoglobin, leukocyte and platelet count and the Zimran's severity score index (SSI). Plasma concentration of TGF-beta1 was determined by RIA phenotypic sandwich antibodies assay and quantified by a colorimetric procedure. Sensitivity was 25 pg/ml and specificity (cross reactivity) < 5% with beta2-TGF and beta3-TGF. STATISTICS:ANOVA and T-test were applied for mean comparisons and subgroup analyses. RESULTS:Plasma TGF-beta1 values were increased in Gaucher's disease patients (98.4 [91.4] pg/ml) over carriers (47.2 [21,7] pg/ml; p = 0.04) and healthy relatives (40.8 [9.8] pg/ml; p = 0.02). No differences in patients subgroups, with regard to SSI or bone involvement, were observed. CONCLUSIONS:Plasma TGF-beta1 levels are increased in this group of patients with Gaucher's disease. Since there is no correlation between the plasma values and the phenotypic expression, TGF-beta1 could merely be a marker of macrophage activation.
journal_name
Med Clin (Barc)journal_title
Medicina clinicaauthors
Pérez Calvo JI,Iñigo Gil P,Giraldo Castellano P,Torralba Cabeza MA,Civeira F,Lario García S,Pocoví Mdoi
10.1016/s0025-7753(00)71637-xkeywords:
subject
Has Abstractpub_date
2000-11-11 00:00:00pages
601-4issue
16eissn
0025-7753issn
1578-8989pii
S0025-7753(00)71637-Xjournal_volume
115pub_type
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