McCullough A J, Wiesner R H, Fleming C R, Dickson E R
Dig Dis Sci. 1984 Sep;29(9):862-4. doi: 10.1007/BF01318433.
When Wilson's disease presents as fulminant hepatic failure, it may be extremely difficult to differentiate from other causes of hepatic insufficiency. A recently described diagnostic biochemical profile (elevated serum and urine copper levels, mild transaminase elevation, very high bilirubin levels, and low hemoglobin with intravascular hemolysis) was employed to diagnose this form of Wilson's disease prior to death in a young woman without Kayer-Fleischer rings and with a normal serum ceruloplasmin level. Since hepatic transplantation now offers a possible cure for this previously uniformly fatal form of Wilson's disease, it should be considered the treatment of choice for this disease entity. Combined with the availability of hepatic transplantation, this patient's temporary improvement and unusually long survival of four months further emphasizes the importance of this diagnostic profile in recognizing Wilson's disease quickly and accurately when it presents as fulminant hepatic failure.
当威尔逊病表现为暴发性肝衰竭时，很难与其他导致肝功能不全的原因相区分。最近描述的一种诊断生化特征（血清和尿液铜水平升高、转氨酶轻度升高、胆红素水平极高以及血管内溶血导致血红蛋白降低）被用于在一名无凯-弗环且血清铜蓝蛋白水平正常的年轻女性死亡前诊断这种形式的威尔逊病。由于肝移植现在为这种以前普遍致命的威尔逊病形式提供了可能的治愈方法，因此应将其视为该疾病实体的首选治疗方法。结合肝移植的可获得性，该患者的暂时改善以及长达四个月的异常长生存期进一步强调了这种诊断特征在快速、准确识别表现为暴发性肝衰竭的威尔逊病时的重要性。
