Korman Jessica D, Volenberg Irene, Balko Jody, Webster Joe, Schiodt Frank V, Squires Robert H, Fontana Robert J, Lee William M, Schilsky Michael L
Montefiore Medical Center, Bronx, NY, USA.
Hepatology. 2008 Oct;48(4):1167-74. doi: 10.1002/hep.22446.
Acute liver failure (ALF) due to Wilson disease (WD) is invariably fatal without emergency liver transplantation. Therefore, rapid diagnosis of WD should aid prompt transplant listing. To identify the best method for diagnosis of ALF due to WD (ALF-WD), data and serum were collected from 140 ALF patients (16 with WD), 29 with other chronic liver diseases and 17 with treated chronic WD. Ceruloplasmin (Cp) was measured by both oxidase activity and nephelometry and serum copper levels by atomic absorption spectroscopy. In patients with ALF, a serum Cp <20 mg/dL by the oxidase method provided a diagnostic sensitivity of 21% and specificity of 84% while, by nephelometry, a sensitivity of 56% and specificity of 63%. Serum copper levels exceeded 200 microg/dL in all ALF-WD patients measured (13/16), but were also elevated in non-WD ALF. An alkaline phosphatase (AP) to total bilirubin (TB) ratio <4 yielded a sensitivity of 94%, specificity of 96%, and a likelihood ratio of 23 for diagnosing fulminant WD. In addition, an AST:ALT ratio >2.2 yielded a sensitivity of 94%, a specificity of 86%, and a likelihood ratio of 7 for diagnosing fulminant WD. Combining the tests provided a diagnostic sensitivity and specificity of 100%.
Conventional WD testing utilizing serum ceruloplasmin and/or serum copper levels are less sensitive and specific in identifying patients with ALF-WD than other available tests. More readily available laboratory tests including alkaline phosphatase, bilirubin and serum aminotransferases by contrast provides the most rapid and accurate method for diagnosis of ALF due to WD.
由威尔逊病（WD）导致的急性肝衰竭（ALF）若不进行紧急肝移植则必然致命。因此，快速诊断WD有助于及时列入移植名单。为确定诊断WD所致ALF（ALF-WD）的最佳方法，收集了140例ALF患者（16例WD患者）、29例其他慢性肝病患者和17例经治疗的慢性WD患者的数据和血清。通过氧化酶活性和散射比浊法测定铜蓝蛋白（Cp），通过原子吸收光谱法测定血清铜水平。在ALF患者中，氧化酶法测定血清Cp<20mg/dL时，诊断敏感性为21%，特异性为84%；而散射比浊法测定时，敏感性为56%，特异性为63%。所有测定的ALF-WD患者（13/16）血清铜水平均超过200μg/dL，但非WD的ALF患者血清铜水平也升高。碱性磷酸酶（AP）与总胆红素（TB）之比<4诊断暴发性WD的敏感性为94%，特异性为96%，似然比为23。此外，AST:ALT比值>2.2诊断暴发性WD的敏感性为94%，特异性为86%，似然比为7。联合检测诊断敏感性和特异性均为100%。
利用血清铜蓝蛋白和/或血清铜水平进行的传统WD检测在识别ALF-WD患者方面不如其他现有检测敏感和特异。相比之下，包括碱性磷酸酶、胆红素和血清转氨酶在内的更易于获得的实验室检测为诊断WD所致ALF提供了最快速准确的方法。
