Szalay Ferenc
Semmelweis Egyetem I. Belgyógyászati Klinika Budapest.
Orv Hetil. 2013 Jul 21;154(29):1156-64. doi: 10.1556/OH.2013.29668.
Iron-overload diseases are typically insidious, causing progressive and irreversible organ injury before clinical symptoms develop. Some iron-overload diseases as HFE-associated hemochromatosis and beta-thalassemia are quite common, whereas others are very rare. Early diagnosis is important since iron toxicity can be attenuated or prevented. Significant progress of our knowledge on iron metabolism developed in the past years. We learned a lot about HFE gene mutations, function of ferroportin and hepcidin, the hypoferremia hormone produced by the liver. However, many questions are still open. Special forms of localized iron overload are the Hallervorden-Spatz syndrome and pantothenate kinase gene mutation associated neurodegeneration causing progressive extrapyramidal movement disorders. Neonatal hemochromatosis is a severe systemic iron-overload disorder due to gestational alloimmune liver disease caused by transplacental maternal IgG directed against the fetal liver. This review article gives an overview on iron metabolism and iron-overload disease. Pathomechanism, diagnosis and treatment of hereditary hemochromatosis are discussed.
铁过载疾病通常隐匿，在临床症状出现之前就会导致进行性和不可逆的器官损伤。一些铁过载疾病，如与HFE相关的血色素沉着症和β地中海贫血相当常见，而其他一些则非常罕见。早期诊断很重要，因为铁毒性可以减轻或预防。在过去几年中，我们对铁代谢的认识有了重大进展。我们对HFE基因突变、铁转运蛋白和铁调素（肝脏产生的低铁血症激素）的功能有了很多了解。然而，许多问题仍然存在。特殊形式的局部铁过载是哈勒沃登-施帕茨综合征和泛酸激酶基因突变相关神经退行性变，可导致进行性锥体外系运动障碍。新生儿血色素沉着症是一种严重的全身性铁过载疾病，由胎盘母体IgG针对胎儿肝脏引起的妊娠同种免疫性肝病所致。这篇综述文章概述了铁代谢和铁过载疾病。讨论了遗传性血色素沉着症的发病机制、诊断和治疗。
