The Children's Memorial Health Institute, Warsaw, Poland.
Institute of Psychiatry and Neurology, Warsaw, Poland.
Best Pract Res Clin Gastroenterol. 2022 Feb-Mar;56-57:101768. doi: 10.1016/j.bpg.2021.101768. Epub 2021 Oct 12.
Wilson's disease (WD) is an autosomal recessive genetic disorder of copper metabolism leading to liver or brain injury due to accumulation of copper. Diagnosis is based on: clinical features, biochemical tests including plasma ceruloplasmin concentration, 24h urinary copper excretion, copper content in the liver, and molecular analysis. Pharmacological therapy comprises chelating agents (penicillamine, trientine) and zinc salts which seem to be very effective. Still, poor compliance is a major problem. Adolescents and patients with psychiatric disorders usually have problems with adherence to treatment. As transition is a vulnerable period transition ''training'' should start before the planned transfer, preferably already in early adolescence in cooperation between adult and pediatric clinics. Response to treatment is assessed based on physical examination, normal liver function tests and monitoring of copper metabolism markers. Liver transplantation has a well-defined role in Wilsonian acute hepatic failure according to the prognostic score. The long-term survival in WD patients seems to be very similar as for the general population if disease is early diagnosed and correctly treated. WD patients with a longer delay from diagnosis to therapy and who present with neurological and psychiatric symptoms have worse quality of life.
威尔逊病（WD）是一种常染色体隐性遗传的铜代谢疾病，由于铜的积累，导致肝脏或大脑损伤。诊断基于：临床特征、生化检查，包括血浆铜蓝蛋白浓度、24 小时尿铜排泄、肝脏铜含量和分子分析。药物治疗包括螯合剂（青霉胺、三乙撑四胺）和锌盐，它们似乎非常有效。然而，依从性差是一个主要问题。青少年和精神障碍患者通常在治疗依从性方面存在问题。由于过渡期是一个脆弱的时期，过渡“培训”应该在计划转科之前开始，最好在青少年早期，由成人和儿科诊所合作进行。治疗反应基于体检、正常肝功能检查和铜代谢标志物监测来评估。根据预后评分，肝移植在威尔逊氏急性肝衰竭中有明确的作用。如果疾病能早期诊断和正确治疗，WD 患者的长期生存似乎与一般人群非常相似。从诊断到治疗的时间延迟较长且出现神经和精神症状的 WD 患者生活质量较差。
