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Serum hepcidin as a biomarker of treatment response in Gaucher disease
Tiago Koppe1, Franciele C Pinheiro1,2,3,4, Marina Siebert2,5
1Department of Genetics, Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Abstract:
Gaucher disease (GD) is a lysosomal disorder associated with hyperferritinemia and altered hepcidin levels. This study evaluated the effect of GD-specific treatment on serum hepcidin and interleukin-6 (IL-6) in seven treatment-naïve Brazilian patients with type 1 GD. Concentrations were measured before and after initiation of treatment. Hepcidin levels significantly decreased and IL-6 showed a downward trend. These results suggest that hepcidin may also exert endocrine effects in GD-related iron metabolism.
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