University of Rochester Medical Center, Pediatric Liver Disease and Liver Transplant Program, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Golisano Childrens Hospital, 601 Elmwood Avenue Box 667, Rochester, NY 14642, USA.
University of Rochester Medical Center, Pediatric Liver Disease and Liver Transplant Program, Division of Pediatric Gastroenterology, Hepatology and Nutrition, Golisano Childrens Hospital, 601 Elmwood Avenue Box 667, Rochester, NY 14642, USA. Electronic address: https://twitter.com/@ascleppios.
Clin Liver Dis. 2022 Aug;26(3):473-488. doi: 10.1016/j.cld.2022.03.008. Epub 2022 Jun 25.
The silver anniversary of the discovery of the Wilson disease gene ATP7B was a couple of years ago, and we continue to make progress both in our understanding of copper transportation using animal models as well as earlier diagnosis by availing of genetic testing. Wilson disease is multisystemic and the hepatic manifestations are seen more frequently in childhood, whereas neurologic manifestations are more common in adults; presentation may range from subtle changes to end-stage liver disease with or without encephalopathy as well as neuropsychiatric manifestations. Treatment remains with zinc and chelating agents such as D-penicillamine and trientine but newer agents and gene therapy are in clinical trials. Liver transplantation becomes necessary when medical therapy is not enough. Molecular diagnosis and genetic counseling is important.
Wilson 病基因 ATP7B 的发现已经有 25 年的历史了，我们在利用动物模型理解铜转运方面以及通过遗传检测进行早期诊断方面都取得了进展。Wilson 病是一种多系统疾病，肝脏表现更常见于儿童期，而神经表现更常见于成年期；其表现从轻微变化到终末期肝病伴或不伴肝性脑病以及神经精神表现不等。治疗仍然是锌和螯合剂，如 D-青霉胺和三乙烯四胺，但新的药物和基因治疗正在临床试验中。当药物治疗无效时，肝移植就变得必要了。分子诊断和遗传咨询很重要。
