Iron metabolism and related genetic diseases: A cleared land, keeping mysteries

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• 作者：Pierre Brissot ; ^{pierre.brissot@univ-rennes1.fr" class="auth_mail" title="E-mail the corresponding author} ; Olivier Loré ; al ; ^{olivier.loreal@inserm.fr" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Iron ; Transferrin ; Ferritin ; Hepcidin ; Ceruloplasmin ; Ferroportin ; Erythroferrone ; Non-transferrin bound iron ; Hemojuvelin ; Transferrin receptor ; Haemochromatosis ; Liver
• 刊名：Journal of Hepatology
• 出版年：2016
• 出版时间：February 2016
• 年：2016
• 卷：64
• 期：2
• 页码：505-515
• 全文大小：1502 K

文摘

Body iron has a very close relationship with the liver. Physiologically, the liver synthesizes transferrin, in charge of blood iron transport; ceruloplasmin, acting through its ferroxidase activity; and hepcidin, the master regulator of systemic iron. It also stores iron inside ferritin and serves as an iron reservoir, both protecting the cell from free iron toxicity and ensuring iron delivery to the body whenever needed. The liver is first in line for receiving iron from the gut and the spleen, and is, therefore, highly exposed to iron overload when plasma iron is in excess, especially through its high affinity for plasma non-transferrin bound iron. The liver is strongly involved when iron excess is related either to hepcidin deficiency, as in HFE, hemojuvelin, hepcidin, and transferrin receptor 2 related haemochromatosis, or to hepcidin resistance, as in type B ferroportin disease. It is less involved in the usual (type A) form of ferroportin disease which targets primarily the macrophagic system. Hereditary aceruloplasminemia raises important pathophysiological issues in light of its peculiar organ iron distribution.