Danks D M
Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Eur J Pediatr. 1991 Jan;150(3):142-8. doi: 10.1007/BF01963553.
There has been some limited progress in the understanding of the basic defect in Wilson disease and the gene concerned has been located to the chromosome region 13q14. Treatment with zinc has emerged as a definite alternative to penicillamine administration and some shortcomings and/or hazards of both forms of therapy have emerged as their modes of action have been studied more carefully. Tetrathimolybdate may have a place in treatment, especially when rapid complexing of copper is important. Hepatic copper accumulation occurs in a number of cholestatic diseases and they play an important part in pathogenesis and can occasionally lead to neurologic toxic effects. Copper overload in the newborn period when biliary excretion of copper is inefficient may establish a vicious cycle of copper accumulation and liver damage in Indian childhood cirrhosis and less frequently in babies in other countries.
在对威尔逊病基本缺陷的理解方面已经取得了一些有限的进展,相关基因已定位到染色体区域13q14。锌治疗已成为青霉胺给药的明确替代方法,随着对这两种治疗方式作用机制的更深入研究,它们各自的一些缺点和/或风险也显现出来。四硫钼酸盐可能在治疗中占有一席之地,特别是在需要快速络合铜的情况下。肝铜蓄积发生在多种胆汁淤积性疾病中,它们在发病机制中起重要作用,偶尔可导致神经毒性作用。在新生儿期,由于铜的胆汁排泄效率低下,铜过载可能会在印度儿童肝硬化中建立铜蓄积和肝损伤的恶性循环,在其他国家的婴儿中则较少见。