Cuthbert J A
Department of Internal Medicine, Southwestern Medical School, University of Texas Southwestern Medical Center, Dallas, USA.
Gastroenterol Clin North Am. 1998 Sep;27(3):655-81, vi-vii. doi: 10.1016/s0889-8553(05)70025-x.
In Wilson's disease, a genetic defect in a copper transporter causes defective incorporation of copper into apo-ceruloplasmin and the failure to excrete copper into bile. Copper accumulated in hepatocytes generates damage via reactive oxygen species. Release of copper from necrotic hepatocytes leads to damage of other tissues, including the brain, urinary tract, red blood cells, heart, endocrine glands, skin, pancreas, bones, and joints. Treatment is designed to chelate the excess copper for urinary excretion, prevent copper absorption, and render tissue copper nontoxic. Liver transplantation, with replacement of the defective hepatic gene, may be necessary in some cases.
在威尔逊病中，铜转运蛋白的基因缺陷导致铜掺入脱辅基铜蓝蛋白存在缺陷，且无法将铜排泄到胆汁中。积聚在肝细胞中的铜通过活性氧产生损伤。坏死肝细胞释放的铜会导致其他组织受损，包括大脑、泌尿道、红细胞、心脏、内分泌腺、皮肤、胰腺、骨骼和关节。治疗旨在螯合过量的铜以便经尿液排出，防止铜吸收，并使组织中的铜变得无毒。在某些情况下，可能需要进行肝移植以替换有缺陷的肝脏基因。
