血色病的临床与基础研究进展

被引：19

作者：

管宇 ^{[1
,2
]}

安鹏 ^{[1
]}

张竹珍 ^{[1
]}

王福俤 ^{[1
]}

机构：

[1] 中国科学院上海生命科学研究院营养科学研究所

[2] 上海中医药大学附属上海市中医医院

来源：

生命科学 | 2012年 / 24卷 / 08期

关键词：

遗传性血色病; 铁过载; 铁代谢; 铁调素;

D O I：

10.13376/j.cbls/2012.08.005

中图分类号：

R55 [血液及淋巴系疾病]; R589 [代谢病];

学科分类号：

1002 ; 100201 ;

摘要：

遗传性血色病(Hereditary Hemochromatosis,HH)是一种西方常见的遗传性铁过载性疾病。目前已知的血色病基因主要包括HFE、TfR2、HJV、FPN及HAMP。这些基因突变导致大量铁离子逐渐沉积在肝、心、胰腺等脏器的实质细胞,造成组织纤维化和结构改变,最终引起器官功能障碍和衰竭,常见症状有肝硬化、肝癌、糖尿病、心力衰竭、垂体及性腺功能减退、关节疾病和皮肤色素沉着等。当前,机体铁代谢分子机制研究的飞速发展,为深入了解血色病带来了契机。综合铁代谢研究领域最新进展,着重对血色病发展历程、发病机制、临床表现、诊断、治疗及中国血色病现状等方面展开综述。

引用

页码：775 / 784

页数：10

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