Olynyk John K, Trinder Debbie, Ramm Grant A, Britton Robert S, Bacon Bruce R
School of Medicine and Pharmacology, University of Western Australia, Fremantle Hospital, Fremantle, Western Australia, Australia.
Hepatology. 2008 Sep;48(3):991-1001. doi: 10.1002/hep.22507.
Following the discovery of the HFE gene in 1996 and its linkage to the iron overload disorder hereditary hemochromatosis (HH) there have been profound developments in our understanding of the pathogenesis of the biochemical and clinical manifestations of a number of iron overload disorders. This article provides an update of recent developments and key issues relating to iron homeostasis and inherited disorders of iron overload, with emphasis on HFE-related HH, and is based on the content of the American Association for the Study of Liver Diseases Single-Topic Conference entitled "Hemochromatosis: What has Happened After HFE?" which was held at the Emory Convention Center in Atlanta, September 7-9, 2007.
1996年发现HFE基因并确定其与铁过载疾病遗传性血色素沉着症(HH)相关联之后,我们对多种铁过载疾病的生化及临床表现的发病机制的理解有了深刻进展。本文介绍了与铁稳态及遗传性铁过载疾病相关的最新进展和关键问题,重点是与HFE相关的HH,并基于2007年9月7日至9日在亚特兰大埃默里会议中心举行的美国肝病研究协会单主题会议“血色素沉着症:HFE之后发生了什么?”的内容撰写。