الفهرس 
GAUCHER DISEASEOnly 14 pages are availabe for public view
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Abstract
Gaucher 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).
We found that there is highly significant difference in
serum hepcidin levels GD patients between gaucher patients
(median 1350) and controls (median 400) (p-value: 0.000) with
serum hepcidin 4 times higher than normal controls.
Serum CCL18 levels were significantly higher in
gaucher patients than controls (p-value 0.000). Median plasma
CCL18 level in patients was 55 ng/mL, whereas the median
level in controls samples is 5 ng /mL.
We have confirmed that CCL18 is greatly elevated in the
serum of patients with GD. We found that there was positive
correlation between CCL18 and SSI (published by Zimran and
co-workers) and splenic volume.
The longitudinal improvement seen in multiple
laboratory parameters documents the amelioration of the
chronic effects of storage and, taken together, is evidence that
ERT reverses the progressive nature of GD. These findings are
consistent with the numerous reports of clinical relapse in
patients who experience treatment interruptions, and they
emphasize the importance of early initiation of and continuous
treatment with ERT for symptomatic patients