Current approach to hemochromatosis

被引：97

作者：

Brissot, Pierre ^{[1
]}

Troadec, Marie-Berengere ^{[1
]}

Bardou-Jacquet, Edouard ^{[1
]}

Le Lan, Caroline ^{[1
]}

Jouanolle, Anne-Marie ^{[1
,2
]}

Deugnier, Yves ^{[1
]}

Loreal, Olivier ^{[1
]}

机构：

[1] Univ Rennes 1, Inserm, Liver Res Unit,Hemochromat Reference Ctr, Liver Dis Unit,U 522,IFR 140, F-35014 Rennes, France

[2] Univ Hosp Pontchaillou, Mol Genet Lab, Rennes, France

来源：

BLOOD REVIEWS | 2008年 / 22卷 / 04期

关键词：

hemochromatosis; iron overload; HFE; hepcidin; hemojuvelin; ferroportin; transferrin receptor 2; transferrin; saturation ferritin; venesection;

D O I：

10.1016/j.blre.2008.03.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Iron overload diseases of genetic origin are an ever changing world, due to major advances in genetics and molecular biology. Five major categories are now established: HFE-related or type1 hemochromatosis, frequently found in Caucasians, and four rarer diseases which are type 2 (A and B) hemochromatosis (juvenile hemochromatosis), type 3 hemochromatosis (transferrin receptor 2 hemochromatosis), type 4 (A and B) hemochromatosis (ferroportin disease), and a(hypo)ceruloplasminemia. Increased duodenal iron absorption and enhanced macrophagic iron recycling, both due to an impairment of hepcidin synthesis, account for the development of cellular excess in types 1, 2, 3, and 4B hemochromatosis whereas decreased cellular iron egress is involved in the main form of type 4A) hemochromatosis and in aceruloplasminemia. Non-transferrin bound iron plays an important rote in cellular iron excess and damage. The combination of magnetic resonance imaging (for diagnosing visceral iron overload) and of genetic: testing has drastically reduced the need for liver biopsy. Phlebotomies remain an essential therapeutic tool. but the improved understanding of the intimate mechanisms underlying these diseases paves the road for innovative therapeutic approaches. (C) 2008 Elsevier Ltd. All rights reserved.

引用

页码：195 / 210

页数：16

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