Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine, Japan.
Department of Medical Biochemistry, Faculty of Pharmaceutical Sciences, Toho University, Japan.
Intern Med. 2024 Sep 1;63(17):2421-2425. doi: 10.2169/internalmedicine.2392-23. Epub 2024 Feb 1.
A 59-year-old Japanese woman presented with hyperferritinemia. We decided against iron removal treatment because there were no symptoms or signs of iron-induced organ damage. A follow-up study revealed a gradual increase in transferrin saturation. The patient underwent a second examination at 66 years old. A liver biopsy showed substantial iron deposits in hepatocytes and Kupffer cells but no inflammation or fibrosis. Serum hepcidin-25 levels were highly parallel with hyperferritinemia. A genetic analysis revealed a G80S mutation in SLC40A1. These features are compatible with those of ferroportin disease. The patient remained asymptomatic at 70 years old, suggesting that the iron-loading condition may have been benign.
一位 59 岁的日本女性因高血铁黄素血症就诊。由于没有铁诱导的器官损伤的症状或体征，我们决定不进行铁清除治疗。后续研究显示转铁蛋白饱和度逐渐升高。患者在 66 岁时接受了第二次检查。肝活检显示肝细胞和枯否细胞中有大量铁沉积，但无炎症或纤维化。血清 hepcidin-25 水平与高血铁黄素血症高度平行。基因分析显示 SLC40A1 中的 G80S 突变。这些特征与铁蛋白病相符。患者在 70 岁时仍无症状，表明铁负荷状态可能是良性的。
