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Hereditary Haemochromatosis

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关键词消化 疾病 含铁血色素沉着症

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解析

hereditary  [həˈredɪtri] [həˈredɪteri]

释义   adj. 遗传的;世袭的;世代相传的

n. 遗传类

例句   Some forms of mental retardation are hereditary.一些智力发育迟缓就是因遗传而造成的。

 

haemochromatosis  [,hɛmo',krəʊmə'təʊsɪs]

释义   n. [内科] 血色病

[皮肤] 血色素沉着症

例句   You may actually have haemochromatosis-a condition where the body absorbs too much iron and which can be toxic, leading to a build up of iron in organs, liver or heart failure and even death. 实际上,你或许身患血色病,由于身体里吸收了太多的铁元素而中毒,致使铁元素在各个器官堆积,最终导致肝脏或心脏衰竭,甚至死亡。


概述

遗传性血色病(Hereditary haemochromatosis,HHC),也称原发性血色病(Primary haemochromatosis)或特发性血色病(Idiopathic haemochromatosis)是常染色体隐性遗传性疾病,由于铁过度吸收及转运障碍,致使铁在肝、脾、胰、皮肤、肾上腺、心、脑垂体、关节等组织、器官实质细胞中过量沉积,造成多器官功能障碍,呈现以皮肤色素沉着、肝硬化及糖尿病三大临床特征为代表的一系列临床表现。 临床表现(1)成年男性多见。早期多数为无

Duodenal expression of iron transport molecules in patients with hereditary hemochromatosis or iron deficiency复制标题

遗传性血色病或缺铁患者铁转运分子的十二指肠表达

发表时间:2011-10-05

影响因子:4.7

作者: Marketa Dostalikova-Cimburova

期刊:Journal of Cellular and Molecular Medicine

Disturbances of iron metabolism are observed in chronic liver diseases. In the present study, we examined gene expression of duodenal iron transport molecules and hepcidin in patients with hereditary hemochromatosis (HHC) (treated and untreated), involving various genotypes (genotypes which represent risk for HHC were examined), and in patients with iron deficiency anaemia (IDA). Gene expressions of DMT1, ferroportin, Dcytb, hephaestin, HFE and TFR1 were measured in duodenal biopsies using real-time PCR and Western blot. Serum hepcidin levels were measured using ELISA. DMT1, ferroportin and TFR1 mRNA levels were significantly increased in post-phlebotomized hemochromatics relative to controls. mRNAs of all tested molecules were significantly increased in patients with IDA compared to controls. The protein expression of ferroportin was increased in both groups of patients but not significantly. Spearman rank correlations showed that DMT1 versus ferroportin, Dcytb versus hephaestin and DMT1 versus TFR1 mRNAs were positively correlated regardless of the underlying cause, similarly to protein levels of ferroportin versus Dcytb and ferroportin versus hephaestin. Serum ferritin was negatively correlated with DMT1 mRNA in investigated groups of patients, except for HHC group. A decrease of serum hepcidin was observed in IDA patients, but this was not statistically significant. Our data showed that although untreated HHC patients do not have increased mRNA levels of iron transport molecules when compared to normal subjects, the expression is relatively increased in relation to body iron stores. On the other hand, post-phlebotomized HHC patients had increased DMT1 and ferroportin mRNA levels possibly due to stimulated erythropoiesis after phlebotomy.

译文

在慢性肝病中观察到铁代谢的紊乱。在本研究中,我们检查了遗传性血色素沉着症(HHC)(治疗和未治疗)患者的十二指肠铁转运分子和铁调素的基因表达,涉及各种基因型(检测代表HHC风险的基因型)和缺铁患者贫血症(IDA)。使用实时PCR和Western印迹在十二指肠活组织检查中测量DMT1,铁转运蛋白,Dcytb,hephaestin,HFE和TFR1的基因表达。使用ELISA测量血清铁调素水平。相对于对照,静脉注射后血色素中DMT1,铁转运蛋白和TFR1 mRNA水平显着增加。与对照相比,IDA患者中所有测试分子的mRNA显着增加。两组患者中铁转运蛋白的蛋白表达均增加但不显着。 Spearman等级相关性显示DMT1与铁转运蛋白,Dcytb与hephaestin和DMT1与TFR1 mRNA的正相关无论其根本原因如何,类似于铁转运蛋白与Dcytb和铁转运蛋白与hephaestin的蛋白水平。除HHC组外,研究组患者血清铁蛋白与DMT1 mRNA呈负相关。在IDA患者中观察到血清铁调素的减少,但这没有统计学意义。我们的数据显示,尽管与正常受试者相比,未治疗的HHC患者的铁转运分子的mRNA水平没有增加,但相对于体内铁储存,表达相对增加。另一方面,静脉切开后的HHC患者可能由于静脉切开术后刺激的红细胞生成而增加DMT1和铁转运蛋白mRNA水平。