Müller-Höcker J, Meyer U, Wiebecke B, Hübner G, Eife R, Kellner M, Schramel P
Pathologisches Institut der Universität München, F.R.G.
Pathol Res Pract. 1988 Feb;183(1):39-45. doi: 10.1016/S0344-0338(88)80157-2.
A severe copper storage disease of the liver with micronodular cirrhosis resembling Indian childhood cirrhosis (ICC) was found in two siblings of a German family leading to death in one infant at the age of 13 months. The fatal outcome correlated with severe ballooning of hepatocytes and excessive formation of Mallory bodies. The copper content of the liver was 698 micrograms per gramme wet weight (control 5 micrograms) in the living patient and 2154 micrograms per gramme dry weight (controls 39, 54 micrograms) in the dead infant. In both cases copper was stored not only in hepatocytes but also to a high degree in mesenchymal cells. Chronic contamination of drinking water supplied from a well via copper pipes could be verified as the cause of copper intoxication, lending further support to ICC as an environmental, acquired disorder. Accumulation of exogenic copper already very early in infancy appears most important for the development of the disease, as both the parents and one child not exposed to copper intoxication during the first 9 months of its life are clinically healthy.
在一个德国家庭的两名兄弟姐妹中发现了一种严重的肝脏铜储存疾病，伴有微小结节性肝硬化，类似印度儿童肝硬化（ICC），其中一名婴儿在13个月大时死亡。致命结局与肝细胞严重气球样变和马洛里小体过度形成有关。在世患者肝脏的铜含量为每克湿重698微克（对照为5微克），死亡婴儿肝脏的铜含量为每克干重2154微克（对照为39、54微克）。在这两个病例中，铜不仅储存在肝细胞中，而且在间充质细胞中也有高度储存。经证实，通过铜管从井中供应的饮用水长期受污染是铜中毒的原因，这进一步支持了ICC是一种环境获得性疾病的观点。婴儿期很早就出现外源性铜的积累似乎对该疾病的发展最为重要，因为父母和一名在生命最初9个月未接触铜中毒的儿童临床均健康。
