Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis.
Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis.
复制标题
血色素沉着症纤维化和肝硬化进展的环境和遗传因素。
作者：
M. Wood;L. Powell;G. Ramm
遗传性血色素沉着症是一种铁代谢的遗传性疾病，导致各器官特别是肝脏不适当的铁吸收和铁负荷。尽管基因突变在盎格鲁-凯尔特后裔中相对常见，但肝硬化只发生在一小部分受影响的个体中。肝纤维化和肝硬化的风险与铁负荷的程度有关，从人群研究中确定了肝铁的阈值浓度。然而，其他环境因素和可能的遗传因素似乎改变了这种风险。过量饮酒似乎是脂肪变性和共存的病毒感染的最重要的辅助因素之一。与纤维形成、抗氧化活性和炎症相关的基因的遗传多态性已经在几种不同形式的慢性肝病中进行了研究。这些基因表达的变异性使血色素沉着症患者易患严重肝脏疾病的风险增加，这是正在进行的调查的主题。显然，铁负荷到肝硬化的进展标志着患者疾病自然史的一个关键阶段，因此也标志着治疗和预后。这篇综述探讨了这一过程的环境和遗传修饰因素的最新进展。
Hereditary hemochromatosis is a genetic disorder of iron metabolism leading to inappropriate iron absorption and iron loading in various organs especially the liver. Despite the genetic mutation being relatively common in those of Anglo Celtic descent, cirrhosis of the liver occurs in only a small proportion of affected individuals. The risk of hepatic fibrosis and cirrhosis relates to the degree of iron loading with threshold hepatic iron concentrations being identified from population studies. However, other environmental and possibly genetic factors appear to modify this risk. Excess alcohol consumption appears to be one of the most important cofactors with steatosis and coexistent viral infection also implicated. Genetic polymorphisms in genes associated with fibrogenesis, antioxidant activity, and inflammation have been investigated in several different forms of chronic liver disease. The variability in the expression of these genes that predispose patients with hemochromatosis to increased risk of severe liver disease is the subject of ongoing investigations. Clearly the progression of iron loading to cirrhosis marks a crucial stage in the natural history of a patient's disease and therefore therapy and prognosis. This review explores recent developments in knowledge of environmental and genetic modifiers of this process.
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影响因子：
25.7
作者：
Diwakaran, HH;Befeler, AS;Bacon, BR
通讯作者：
Bacon, BR
影响因子：
158.5
作者：
Adams, PC;Reboussin, DM;Thomson, E
通讯作者：
Thomson, E
影响因子：
158.5
作者：
Allen, Katrina J.;Gurrin, Lyle C.;Gertig, Dorota M.
通讯作者：
Gertig, Dorota M.
DOI：
--
发表时间：
1997
期刊：
--
影响因子：
--
作者：
F. Ali-Osman;O. Akande;G. Antoun;Jialei Mao;J. Buolamwini
通讯作者：
F. Ali-Osman;O. Akande;G. Antoun;Jialei Mao;J. Buolamwini
在血色素沉着病和铁超负荷筛查 (HEIRS) 研究中，铁转运蛋白 Q248H 多态性与非裔美国人血清铁蛋白水平升高之间的关联。
DOI：
10.1016/j.bcmd.2006.12.002
发表时间：
2007
期刊：
Blood cells, molecules & diseases
影响因子：
--
作者：
Rivers,CharlesA;Barton,JamesC;Gordeuk,VictorR;Acton,RonaldT;Speechley,MarkR;Snively,BeverlyM;Leiendecker-Foster,Catherine;Press,RichardD;Adams,PaulC;McLaren,GordonD;Dawkins,FitzroyW;McLaren,ChristineE;Reboussin,DavidM
通讯作者：
Reboussin,DavidM