Departamento de Enfermedades Digestivas, Hospital Universitario Virgen del Rocío, Sevilla, España.
Departamento de Enfermedades Digestivas, Hospital Universitario Virgen del Rocío, Sevilla, España; Instituto de Biomedicina de Sevilla (IBiS), Sevilla, España; Universidad de Sevilla, Sevilla, España; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Madrid, España.
Med Clin (Barc). 2023 Mar 24;160(6):261-267. doi: 10.1016/j.medcli.2022.12.016. Epub 2023 Jan 23.
Wilson's disease (WD) is an uncommon hereditary disorder caused by a deficiency in the ATP7B transporter. The protein codified by this gene facilitates the incorporation of the copper into ceruloplasmin. Therefore, WD accumulates copper primary in the liver and secondary in other organs, such as the central nervous system. It represents a wide spectrum of disease, ranging from being asymptomatic in some patients to promote an acute liver failure in others. The diagnosis requires a combination of clinical signs and symptoms, as well as some diagnostic tests such as the measurement of serum ceruloplasmin, the urinary excretion of copper, the liver biopsy or the genetic testing. The treatment must be maintained lifelong and includes some drugs such as chelating agents (penicillamine and trientine) and inhibitors of the copper absorption (zinc salts). Lastly, the liver transplant should be an option for patients with end-stage liver disease.
威尔逊病（WD）是一种罕见的遗传性疾病，由 ATP7B 转运蛋白的缺乏引起。该基因编码的蛋白质有助于将铜掺入铜蓝蛋白中。因此，WD 主要在肝脏中积累铜，其次在其他器官中积累，如中枢神经系统。它代表了广泛的疾病谱，从一些患者无症状到另一些患者急性肝衰竭不等。诊断需要结合临床症状和体征，以及一些诊断测试，如血清铜蓝蛋白测定、尿铜排泄、肝活检或基因检测。治疗必须终身维持，包括一些药物，如螯合剂（青霉素和三乙撑四胺）和铜吸收抑制剂（锌盐）。最后，肝移植应该是终末期肝病患者的一种选择。
