Serum hepcidin as a biomarker of treatment response in Gaucher disease

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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Publication Details

Journal
Molecular Genetics and Metabolism Reports
Published
2025-09-25
DOI
https://doi.org/10.1016/j.ymgmr.2025.101255
Primary Topic
Iron Metabolism and Disorders
Type
article
Field-Weighted Citation Impact
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Serum hepcidin as a biomarker of treatment response in Gaucher disease

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article

Serum hepcidin as a biomarker of treatment response in Gaucher disease

Ida Vanessa Döederlein Schwartz, Franciele Cabral Pinheiro, Suélen Porto Basgalupp, Marina Siebert, Liane Esteves Daudt, Tiago Koppe
article en

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.

Molecular Genetics and Metabolism ReportsVol. 45
Hospital de Clínicas de Porto Alegre (BR)
Openalex Percentile: Top 66%
Iron Metabolism and Disorders
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