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原发性血色病(Hereditary Hemochromatosis,HH)是一种与HLA关联的常染色体隐性遗传病,表现为纯合子的铁代谢紊乱,即肝脏和其他器官的实质细胞铁的渐进沉积.铁在实质器官的逐渐沉积可导致肝硬化、肝癌、充血性心力衰竭、性腺功能低下、糖尿病和皮肤色素沉着.有证据表明一旦铁浓度(Hepatic iron conce tration.HIC)>400μmol/gm则有出现肝硬化及进展性肝功能衰竭的危险.对与HH患者小肠吸收铁功能增强有关的血色病基因仍未明了.愈来愈多的证据表明在遗传状态下遗传因素在疾病表达中起重要作用.
Hereditary Hemochromatosis (HH) is an autosomal recessive disease associated with HLA that manifests as a homozygous iron metabolism disorder, the progressive deposition of iron in the parenchymal cells of the liver and other organs. The progressive deposition of organs can lead to cirrhosis, liver cancer, congestive heart failure, hypogonadism, diabetes and skin pigmentation. There is evidence that cirrhosis occurs when the iron concentration (HIC)> 400 μmol / gm Risk of Progressive Liver Failure. The genetic basis of hemochromatosis associated with enhanced iron absorption in the small intestine of HH patients remains unclear. There is growing evidence that genetic factors play an important role in disease expression in the genetic state.