以非结合胆红素增高为主要表现的Wilson病(附1例报告)

Wilson's disease primary presented with increased unconjugated bilirubin:one case report

Wilson病是一种罕见的常染色体隐性遗传性铜代谢障碍性疾病。临床症状复杂多样,常见的有肝损害及神经系统病变,而以非结合胆红素增高为主要表现的罕见。诊断上需综合考虑临床表现、角膜Kayser-Fleischer环、铜蓝蛋白检测及肝脏组织学。治疗上常用药物驱铜和肝移植。

Wilson＇ s disease is a rare autosomal recessive genetic disease of copper metabolism. Clinical manifestations vary from liver damage and nervous system lesions, but primary presented with increased unconjugated bilirubin is uncommon. Final diagnosis is combined with clinical features, cornea Kayser-Fleischer ring, ceruloplasmin and liver histology. Drugs which promote copper excretion and/or reduce copper absorption, and liver transplantation are main treatment strategy.