Baker A, Gormally S, Saxena R, Baldwin D, Drumm B, Bonham J, Portmann B, Mowat A P
Variety Club Children's Hospital, King's College Hospital, London, UK.
J Hepatol. 1995 Nov;23(5):538-43. doi: 10.1016/0168-8278(95)80059-x.
BACKGROUND/AIMS: Indian childhood cirrhosis is associated with high liver copper concentrations and progressive liver disease with a high mortality. Early treatment with penicillamine was found to reduce mortality and reverse liver damage. We aimed to define the clinical features of copper-associated liver disease outwith the Indian subcontinent and encourage the earlier consideration of the syndrome in cryptogenic liver disease.
Three European children presented between 10 and 29 months of age with abdominal distension, pyrexia and hepatosplenomegaly. Over 1-5 weeks their condition deteriorated rapidly due to liver failure. Two died within 2 months of onset and one received a successful liver transplant. In two cases consideration of the diagnosis occurred only on examination of the liver after orthotopic liver transplant or death. Light microscopy was used, with haematoxylin and eosin, reticulin and orcein stains. Tissue, plasma and water copper levels were measured by flame atomic absorption spectrometry.
All had micronodular cirrhosis and severe hepatocellular necrosis with Mallory bodies and copious-orcein positive material. Liver copper concentrations ranged from 1100-1310 micrograms/g dry weight. For two patients domestic water with high copper content had been used for the preparation of feeds. No environmental source of excess copper could be identified in the third case.
We suggest that the above condition, which is called Indian childhood cirrhosis in the Indian subcontinent and Copper Storage Disease elsewhere, would be better named 'Copper-Associated Liver Disease in Childhood', emphasising the need to consider this disorder in unexplained liver disease and to seek possible sources of excessive copper intake.
背景/目的：印度儿童肝硬化与肝脏铜浓度升高及进展性肝病相关，死亡率很高。已发现青霉胺早期治疗可降低死亡率并逆转肝损伤。我们旨在明确印度次大陆以外地区铜相关肝病的临床特征，并鼓励在隐源性肝病中更早地考虑该综合征。
三名欧洲儿童在10至29个月大时出现腹胀、发热和肝脾肿大。在1至5周内，他们的病情因肝衰竭迅速恶化。两人在发病后2个月内死亡，一人接受了成功的肝移植。在两例中，仅在原位肝移植或死亡后检查肝脏时才考虑诊断。使用苏木精和伊红、网状纤维和orcein染色进行光学显微镜检查。通过火焰原子吸收光谱法测量组织、血浆和水中的铜水平。
所有患者均有小结节性肝硬化和严重的肝细胞坏死，伴有马洛里小体和大量orcein阳性物质。肝脏铜浓度范围为1100 - 1310微克/克干重。两名患者的家庭用水中铜含量高，曾用于制备食物。第三例中未发现环境中存在过量铜的来源。
我们建议，上述在印度次大陆称为印度儿童肝硬化、在其他地方称为铜贮积病的疾病，最好命名为“儿童铜相关肝病”，强调在不明原因肝病中需要考虑这种疾病，并寻找过量铜摄入的可能来源。
