Gill H H, Shankaran K, Desai H G
Department of Gastroenterology, Jaslok Hospital and Research Center, Bombay.
Indian J Gastroenterol. 1994 Jul;13(3):95-8.
Wilson's disease is an inherited disorder of copper metabolism. Previous Indian studies have high-lighted the neurological manifestations of this disorder. Eleven patients with Wilson's disease with different hepatic manifestations are reported.
Patients referred to the gastroenterology department of a tertiary referral center were investigated for Wilson's disease, based on clinical suspicion, with slit-lamp examination for Kayser-Fleischer rings, serum ceruloplasmin and 24-hour urinary copper estimation. Liver biopsy was done whenever possible.
Patients with Wilson's disease presented as acute viral hepatitis (n = 5), fulminant hepatic failure (n = 2), subacute hepatic failure (n = 2) and cryptogenic cirrhosis (n = 2). Therapy with penicillamine/trientene and zinc sulphate was started in 9 patients; 5 showed good response to therapy, one had to be switched to trientene due to penicillamine toxicity, two died, and one was lost to follow-up.
Wilson's disease has varied hepatic presentations and should be suspected in all patients with unexplained liver disease. Any young adult presenting with acute hepatitis or fulminant hepatic failure who has evidence of underlying chronic liver disease or associated hemolytic anemia should be investigated for Wilson's disease. Therapy with penicillamine or trientene combined with zinc sulphate shows improvement in a majority of patients.
威尔逊病是一种遗传性铜代谢紊乱疾病。先前的印度研究突出了该疾病的神经学表现。本文报告了11例具有不同肝脏表现的威尔逊病患者。
基于临床怀疑，对转诊至一家三级转诊中心胃肠病科的患者进行威尔逊病调查，采用裂隙灯检查凯-弗环、血清铜蓝蛋白检测及24小时尿铜测定。尽可能进行肝活检。
威尔逊病患者表现为急性病毒性肝炎（5例）、暴发性肝衰竭（2例）、亚急性肝衰竭（2例）和隐源性肝硬化（2例）。9例患者开始使用青霉胺/曲恩汀和硫酸锌治疗；5例对治疗反应良好，1例因青霉胺毒性不得不改用曲恩汀，2例死亡，1例失访。
威尔逊病有多种肝脏表现，所有不明原因肝病患者均应怀疑该病。任何出现急性肝炎或暴发性肝衰竭且有潜在慢性肝病证据或伴有溶血性贫血的年轻成人，均应进行威尔逊病调查。青霉胺或曲恩汀联合硫酸锌治疗可使大多数患者病情改善。
