Brewer G J, Dick R D, Johnson V D, Brunberg J A, Kluin K J, Fink J K
University of Michigan Medical School, Ann Arbor 48109-0618, USA.
J Lab Clin Med. 1998 Oct;132(4):264-78. doi: 10.1016/s0022-2143(98)90039-7.
Wilson's disease is an inherited disease of copper accumulation caused by a failure of biliary excretion of excess copper. Accumulated copper causes liver disease in these patients, and in perhaps two thirds of patients, it causes brain damage leading to clinical neurologic or psychiatric dysfunction. Maintenance treatment involves reversing the positive copper balance. The earliest approaches have used chelators, such as penicillamine or trientine, which increase the urinary excretion of copper. A more recent approach has used zinc, which blocks the absorption of copper and increases copper excretion in the stool. Because of the high level of endogenously secreted copper in alimentary secretions, the reabsorption of which is partially blocked by zinc therapy, zinc acts to remove accumulated copper from the body as well as prevent its reaccumulation. In the present article we present data on the long-term follow-up (up to 10 years) of maintenance zinc treatment of 141 patients with Wilson's disease. The data presented document that zinc is effective as a sole therapy in the long-term maintenance treatment of Wilson's disease and that it has a low toxicity. The results demonstrate the efficacy of zinc therapy in treating the presymptomatic patient from the beginning of therapy. We also present limited data on the use of zinc in the treatment of pregnant patients and children who have Wilson's disease; these data also indicate efficacy and low toxicity. The median follow-up period for the group as a whole is 4.8 years; for the presymptomatic patients it is 6.5 years; for the children it is 3.6 years.
威尔逊氏病是一种遗传性铜蓄积疾病，由胆汁排泄过量铜失败所致。蓄积的铜在这些患者中引发肝脏疾病，并且在大约三分之二的患者中，会导致脑损伤，进而引发临床神经或精神功能障碍。维持治疗包括扭转铜的正平衡。最早的方法使用螯合剂，如青霉胺或曲恩汀，它们可增加铜的尿排泄。最近的一种方法使用锌，它可阻断铜的吸收并增加粪便中的铜排泄。由于消化液中内源性分泌的铜水平较高，锌疗法可部分阻断其重吸收，因此锌既能从体内清除蓄积的铜，又能防止其再次蓄积。在本文中，我们展示了对141例威尔逊氏病患者进行维持性锌治疗长达10年的长期随访数据。所展示的数据表明，锌作为单一疗法在威尔逊氏病的长期维持治疗中是有效的，并且毒性较低。结果证明了锌疗法从治疗开始就对症状前患者有效。我们还展示了关于锌在治疗患有威尔逊氏病的孕妇和儿童方面的有限数据；这些数据也表明了其有效性和低毒性。整个组的中位随访期为4.8年；症状前患者为6.5年；儿童为3.6年。
