Scheinberg I H, Sternlieb I
National Center for the Study of Wilson's Disease, St Luke's-Roosevelt Hospital Center, Columbia University, New York, USA.
Am J Clin Nutr. 1996 May;63(5):842S-5S. doi: 10.1093/ajcn/63.5.842.
The pathogenic agent of both Wilson disease (WD) and non-Indian childhood cirrhosis (which we term idiopathic copper toxicosis, or ICT) is copper accumulating to excess in the liver. Inheritance of a pair of alleles of an autosomal recessive gene on chromosome 13 is necessary and sufficient to cause such copper accumulation in WD; reducing the dietary intake of copper cannot prevent the development of WD. In contrast, the lethal accumulations of copper in children with ICT have been attributed primarily to an increased dietary intake of copper. However, 64 124 child-year exposures of children under the age of 6 y to drinking water containing a copper concentration of approximately 125.9 micromol/L (8 mg/L) produced no deaths from any form of liver disease. Moreover, the ICT of seven infants was attributed primarily to drinking water containing < 110.2 micromol Cu/L (7 mg/L) despite evidence of the presence of a genetic defect in three of the patients, one of whom was exclusively breast-fed. These data suggest that ICT cannot be caused solely by increased dietary intake of copper and occurs only in children with an identified genetic defect.
威尔逊病（WD）和非印度儿童肝硬化（我们称之为特发性铜中毒，即ICT）的致病因素都是肝脏中铜过量蓄积。13号染色体上一对常染色体隐性基因等位基因的遗传是WD中导致这种铜蓄积的必要且充分条件；减少铜的饮食摄入并不能预防WD的发展。相比之下，ICT患儿中致命的铜蓄积主要归因于饮食中铜摄入量的增加。然而，64124儿童年的6岁以下儿童接触铜浓度约为125.9微摩尔/升（8毫克/升）的饮用水，未出现因任何形式肝病导致的死亡。此外，7名婴儿的ICT主要归因于饮用含铜量<110.2微摩尔/升（7毫克/升）的水，尽管有证据表明其中3名患者存在基因缺陷，其中1名患者为纯母乳喂养。这些数据表明，ICT不能仅由饮食中铜摄入量增加引起，且仅发生在具有明确基因缺陷的儿童中。
