消化
词汇介绍
拓展阅读
解析
hereditary 英 [həˈredɪtri] 美 [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
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。早期多数为无症状者，部分患者可表现为乏力，血清转氨酶轻度开高，全身皮肤色素沉着等；
（2）症状明显者表现为：①皮肤色素沉着；②肝肿大及肝硬化；③糖尿病；④性机能减退；⑤其它：可引起心脏改变、关节病及关节痛症状，少数患者可出现癫痫症状。
诊断要点
（1）血清学检查；
（2）肝活检和肝组织铁测定；
（3）除外由于严重肝功能损害伴有大量的铁在肝内沉积及血色素沉着的继发性新生儿血色病(secondary neonate haemochromatosis)以及由于先天或后天获得性贫血而多次输血诱发的含铁血色素沉着症(Transfusion-induced hemo-siderosis)；
（4）条件具备者可作HHC相关基因-HFE基因鉴定：①C282Y基因突变；②H63D基因突变；
（5）影像学检查；
（6）初发者家庭成员HFE基因检测。
治疗方案及原则
（1）强调早期诊断，早期治疗，可延缓或阻止肝硬化及并发症的发生，延长患者寿命或寿命正常。
①静脉放血疗法(Phlebotomy therapy)：是目前最有效的方法；
②药物螯合治疗；
③对合并终未期肝硬化或无肝外转移的原发性肝癌患者可试行肝移植，但疗效尚不够满意。
（2）随着分子遗传学的发展，渴望通过基因疗法达到从根本上治愈HHC患者之目标。
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
影响指数：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.
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