Iron Homeostasis and Tissue Inflammation in Gaucher Patients on Enzyme Replacement Therapy

Abstract

G aucher disease "GD" is one of the most common glycolipid storage disorders, caused by a genetic deficiency of lysosomal β- glucocerebrosidase, encoded by GBA gene, leading to accumulation of the substrate glucocerebroside in the cells of the macrophage monocyte system. Glucocerebroside engorged cells, termed Gaucher cells, infiltrate various organs, leading to multisystem organomegaly, pancytopenia and bone complication (Hassan, 2017). A number of biochemical abnormalities have been described in GD, and it is therefore not surprising that several markers have been developed in an attempt to evaluate response to treatment (Vellodi et al., 2005). In this study, our aim of work is to analyze iron profile, hepcidin and selected inflammatory parameters, including serum cytokine (CCL18) in Gaucher patients in comparison to normal population, and Secondary was to correlate these results with patients genotype and severity scoring index. We enrolled 100 subjects for study 50 gaucher patients (confirmed by had β-glucocerebrosidase deficiency) and 50 (age- and sex- matched) normal children. Full clinical examination, investigations were done. In our study patients with confirmed GD baseline serum ferritin level showing significant hyperferritenemia (mean 184.30), with highly significant difference in ferritin levels between pre and post ERT (P-value: 0.000).