血清hepcidin作为戈谢病治疗反应的生物标志物

IF 1.9 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2025-09-24 DOI:10.1016/j.ymgmr.2025.101255

Tiago Koppe , Franciele C. Pinheiro , Marina Siebert , Suelen Basgalupp , Liane E. Daudt , Ida Vanessa D. Schwartz

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引用次数: 0

摘要

戈谢病（GD）是一种溶酶体疾病，与高铁蛋白血症和肝磷脂水平改变有关。本研究评估了GD特异性治疗对7例treatment-naïve巴西1型GD患者血清hepcidin和白细胞介素-6 （IL-6）的影响。在治疗开始之前和之后测量浓度。Hepcidin水平明显降低，IL-6呈下降趋势。这些结果提示hepcidin也可能在gd相关的铁代谢中发挥内分泌作用。

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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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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.