Hepcidin in iron overload disorders
Hepcidin in iron overload disorders
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DOI：
10.1182/blood-2004-12-4844
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发表时间：
2005-05-15
期刊：
影响因子：
20.3
通讯作者：
Nemeth, E
中科院分区：
文献类型：
--
作者：
Papanikolaou, G;Tzilianos, M;Nemeth, E
铁调素是人体铁吸收的主要调节剂。该肽通过与铁输出通道铁转运蛋白结合并诱导其内化和降解来抑制细胞铁流出。铁调素缺乏或其靶标铁转运蛋白的改变预计会导致铁吸收失调、铁的组织分布失调和铁过载。事实上，已有报道称，遗传性血色素沉着病中存在铁调素缺乏，其原因是 HFE、转铁蛋白受体 2、血幼素和铁调素基因本身的突变。我们测量了患有其他铁超载遗传原因的患者的尿铁调素。研究发现，铁调素在地中海贫血综合征和先天性红细胞生成障碍性贫血 1 型患者中受到抑制，而在具有 HAMP 突变的青少年血色病患者中检测不到。有趣的是，2 名 4 型血色素沉着病患者的尿铁调素水平显着升高。这些发现扩大了铁调素缺乏引起的铁紊乱的范围，并强调了铁调素-铁转运蛋白相互作用在铁稳态中的至关重要性。 (c) 2005 年，美国血液学会。
Hepcidin is the principal regulator of iron absorption in humans. The pepticle inhibits cellular iron efflux by binding to the iron export channel ferroportin and inducing its internalization and degradation. Either hepcidin deficiency or alterations in its target, ferroportin, would be expected to result in dysregulated iron absorption, tissue maldistribution of iron, and iron overload. Indeed, hepcidin deficiency has been reported in hereditary hemochromatosis and attributed to mutations in HFE, transferrin receptor 2, hemojuvelin, and the hepcidin gene itself. We measured urinary hepcidin in patients with other genetic causes of iron overload. Hepcidin was found to be suppressed in patients with thalassemia syndromes and congenital dyserythropoietic anemia type 1 and was undetectable in patients with juvenile hemochromatosis with HAMP mutations. Of interest, urine hepcidin levels were significantly elevated in 2 patients with hemochromatosis type 4. These findings extend the spectrum of iron disorders with hepcidin deficiency and underscore the critical importance of the hepcidin-ferroportin interaction in iron homeostasis. (c) 2005 by The American Society of Hematology.