遗传性血色素沉着症患者血清铁蛋白与肝脏铁浓度的差异——T2*磁共振成像的价值
Discrepancy between Serum Ferritin and Liver Iron Concentration in a Patient with Hereditary Hemochromatosis - The Value of T2* MRI.
作者信息
Al-Tikrity Mustafa A, Yassin Mohamed A
机构信息
Department of Internal Medicine, Hamad Medical Corporation, Doha, Qatar.
Department of Medical Oncology, National Center for Cancer Care and Research, Hamad Medical Corporation, Doha, Qatar.
出版信息
Case Rep Oncol. 2020 Jun 24;13(2):712-715. doi: 10.1159/000507756. eCollection 2020 May-Aug.
Abstract
Primary hemochromatosis is an inherited disorder, and the homeostatic iron regulator () gene C282Y mutation is a common cause of hemochromatosis in Europe. We are reporting a case of a 56-year-old female known to have hemochromatosis with the gene C282Y mutation with a serum ferritin level of 482 μg/L who underwent heart and liver T2* MRI which showed no evidence of iron overload - neither in the heart nor in the liver. This indicates that there is a discrepancy between serum ferritin and liver iron concentration by MRI and the superiority of T2* MRI in diagnosis and follow-up of iron overload in patients with hereditary hemochromatosis.
摘要
原发性血色素沉着症是一种遗传性疾病，稳态铁调节基因（HFE）C282Y突变是欧洲血色素沉着症的常见病因。我们报告了一例56岁女性，已知患有血色素沉着症且存在HFE基因C282Y突变，血清铁蛋白水平为482μg/L，该患者接受了心脏和肝脏T2磁共振成像（MRI）检查，结果显示心脏和肝脏均无铁过载迹象。这表明血清铁蛋白与MRI检测的肝脏铁浓度之间存在差异，以及T2 MRI在遗传性血色素沉着症患者铁过载诊断和随访中的优越性。
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