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一位无症状铁蛋白病的 70 岁女性。

A 70-year-old Woman with Asymptomatic Ferroportin Disease.

机构信息

Department of Integrated Health Sciences, Nagoya University Graduate School of Medicine, Japan.

Department of Medical Biochemistry, Faculty of Pharmaceutical Sciences, Toho University, Japan.

出版信息

Intern Med. 2024 Sep 1;63(17):2421-2425. doi: 10.2169/internalmedicine.2392-23. Epub 2024 Feb 1.

Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a224/11442921/104b75ae49a7/1349-7235-63-2421-g001.jpg

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