| 1 | 1991~2010年国内血色病荟萃分析显示文摘目的提高临床医生对血色病的认识。方法使用'血色病'为关键词,检索中国医院知识数据库(CHKD)1991~2010年的文献,发现经肝穿刺和(或)磁共振成像(MRI)确诊的血色病患者71例,分为原发性血色病(primary haemochromatosis,PHC)和继发性血色病(secondary haemochromatosis,SHC),比较二者的临床特点。结果 43例PHC患者,男36例,女7例,平均年龄(38.1±15.2)岁,12例可疑存在类似家族史;28例SHC患者,均为男性,平均年龄(44.2±13.2)岁。SHC继发于血液病9例,慢性肝病19例。PHC和SHC的主诉主要为皮肤色素沉着、乏力、糖尿病、性功能低下、活动性气促;体征主要为皮肤色素沉着、脾大、肝大、肝脾均大和心界扩大,且多合并多器官受损;多器官损害以肝脏受损+皮肤色素沉着最为多见,PHC和SHC的发生率分别为67.4%(29/43)和67.9%(19/28),上述结果差异均无统计学意义(P>0.05)。PHC患者存在肝硬化者出现皮肤色素沉着、糖尿病和皮肤色素沉着+糖尿病要明显多于无肝硬化者(P<0.05)。实验室检查方面,铁蛋白在PHC患者中的升高率为94.3%,在SHC为100.0%(P>0.05);转铁蛋白饱和度(transferrin saturation,TS)在PHC患者中的升高率为78.6%,在SHC共检测2例,均升高。结论血色病为多脏器受损的铁过载性疾病,国内确诊依赖于肝穿刺或腹部MRI;为避免误诊和漏诊,长期输血和慢性肝病患者应常规检测空腹铁蛋白和TS,升高者应进一步筛查遗传基因,早期治疗可能会改善预后。 | 范振平 石红霞 张文瑾 史雪敏 蔡少平 吉英杰 高峰 何卫平 | 2011 | 临床荟萃2011，26，24： | 7 |
| 2 | Function of the hemochromatosis protein HFE:Lessons from animal models显示文摘Hereditary hemochromatosis (HH) is caused by chronic hyperabsorption of dietary iron. Progressive accumulation of excess iron within tissue parenchymal cells may lead to severe organ damage. The most prevalent type of HH is linked to mutations in the HFE gene, encoding an atypical major histocompatibility complex classⅠmolecule. Shortly after its discovery in 1996, the hemochromatosis protein HFE was shown to physically interact with transferrin receptor 1 (TfR1) and impair the uptake of transferrin-bound iron in cells. However, these findings provided no clue why HFE mutations associate with systemic iron overload. It was later established that all forms of HH result from misregulation of hepcidin expression. This liver-derived circulating peptide hormone controls iron efflux from duodenal enterocytes and reticuloendothelial macrophages by promoting the degradation of the iron exporter ferroportin. Recent studies with animal models of HH uncover a crucial role of HFE as a hepatocyte iron sensor and upstream regulator of hepcidin. Thus, hepatocyte HFE is indispensable for signaling to hepcidin, presumably as a constituent of a larger iron-sensing complex. A working model postulates that the signaling activity of HFE is silenced when the protein is bound to TfR1. An increase in the iron saturation of plasma transferrin leads to displacement of TfR1 from HFE and assembly of the putative iron-sensing complex. In this way, iron uptake by the hepatocyte is translatedinto upregulation of hepcidin, reinforcing the concept that the liver is the major regulatory site for systemic iron homeostasis, and not merely an iron storage depot. | Kostas Pantopoulos | 2008 | World Journal of Gastroenterology2008，14，45： | 1 |
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