Bonkovsky H L, Obando J V
Division of Digestive Disease and Nutrition, U. Mass. Memorial Health Care, Room S6-737, 55 Lake Avenue North, Worcester, MA 01655, USA.
Curr Gastroenterol Rep. 1999 Feb-Mar;1(1):30-7. doi: 10.1007/s11894-999-0084-5.
Heavy iron overload, as occurs in primary and secondary hemochromatosis, may cause fibrosis of parenchymal organs, including the heart, liver, and pancreas, and it is a risk factor for the development of hepatocellular carcinoma. Recent evidence indicates that lesser degrees of hepatic iron deposition are also risk factors for nonhemochromatotic liver disease. For example, several recent studies showed extraordinarily high prevalences (about 60% to 75%) of HFE mutations in patients with porphyria cutanea tarda and significantly increased prevalences of these mutations in patients with nonalcoholic steatohepatitis from Australia and the United States. It is less well established that the prevalence of the HFE mutations is increased in alcoholic liver disease and in chronic viral hepatitis, but in both conditions, patients harboring one of these mutations, especially C282Y, are more likely to have advanced hepatic fibrosis or cirrhosis. Thus, these mutations both incite and exacerbate nonhemochromatotic liver disease. In this review, we summarize current knowledge of these associations and emphasize important unresolved questions that require further study.
重度铁过载，如在原发性和继发性血色素沉着症中出现的那样，可能导致实质器官纤维化，包括心脏、肝脏和胰腺，并且它是肝细胞癌发生的一个危险因素。最近的证据表明，较轻程度的肝脏铁沉积也是非血色素沉着性肝病的危险因素。例如，最近的几项研究显示，迟发性皮肤卟啉症患者中HFE突变的患病率极高（约60%至75%），而来自澳大利亚和美国的非酒精性脂肪性肝炎患者中这些突变的患病率显著增加。酒精性肝病和慢性病毒性肝炎中HFE突变的患病率是否增加尚不太明确，但在这两种情况下，携带这些突变之一（尤其是C282Y）的患者更有可能出现晚期肝纤维化或肝硬化。因此，这些突变既引发又加剧非血色素沉着性肝病。在这篇综述中，我们总结了目前关于这些关联的知识，并强调了需要进一步研究的重要未解决问题。
