Brissot P, Bardou-Jacquet E, Latournerie M, Ropert-Bouchet M, Island M L, Loréal O, Jouanolle A-M
Inserm U-522, Service des Maladies du Foie, Centre de Dépistage des Surcharges en fer Rares d'Origine Génétique, CHU Pontchaillou, 2 rue Henri-Le-Guilloux, 35033 Rennes cedex 13, France.
Pathol Biol (Paris). 2010 Oct;58(5):316-23. doi: 10.1016/j.patbio.2009.10.011. Epub 2009 Nov 25.
The field of hereditary iron overload has known, in the recent period, deep changes mainly related to major advances in molecular biology. It encompasses now a series of genetic entities. The mechanistic understanding of iron overload development and iron toxicity has greatly improved. The diagnostic approach has become essentially noninvasive with a major role for biological tests. From the therapeutic viewpoint, the phlebotomy treatment is now enriched by the possibility of resorting to oral chelation and by innovative perspectives directly linked to our improvement in the molecular understanding of these diseases.
近年来,遗传性铁过载领域发生了深刻变化,主要与分子生物学的重大进展有关。现在它涵盖了一系列遗传实体。对铁过载发展和铁毒性的机制理解有了很大提高。诊断方法已基本实现非侵入性,生物学检测发挥着重要作用。从治疗角度来看,现在放血疗法因可采用口服螯合疗法以及与我们对这些疾病分子理解的改善直接相关的创新前景而更加丰富。