Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests.
Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests.
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DOI：
10.1002/hep.22446
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发表时间：
2008-10
期刊：
影响因子：
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通讯作者：
Pediatric and Adult Acute Liver Failure Study Groups
中科院分区：
文献类型：
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作者：
Korman JD;Volenberg I;Balko J;Webster J;Schiodt FV;Squires RH Jr;Fontana RJ;Lee WM;Schilsky ML;Pediatric and Adult Acute Liver Failure Study Groups
肝豆状核病（WD）引起的急性肝衰竭（ALF）在没有紧急肝移植的情况下总是致命的。因此，快速诊断WD应有助于及时列出移植清单。为了确定诊断WD致ALF （ALF-WD）的最佳方法，我们收集了140例ALF患者（16例合并WD）、29例合并其他慢性肝病和17例治疗过的慢性WD患者的资料和血清。氧化酶活性和浊度法测定铜蓝蛋白（Cp），原子吸收光谱法测定血清铜含量。在ALF患者中，用氧化酶法诊断血清Cp <20 mg/dL的灵敏度为21%，特异性为84%，而用浊度法诊断的灵敏度为56%，特异性为63%。所有ALF- wd患者血清铜水平均超过200 g/dL(13/16)，但非wd ALF患者血清铜水平也升高。碱性磷酸酶（AP）与总胆红素（TB）比值<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bbbb2.2诊断暴发性WD的敏感性为94%，特异性为86%，似然比为7。两种检测相结合可提供100%的诊断敏感性和特异性。总之，利用血清铜蓝蛋白和/或血清铜水平的常规WD检测在识别ALF-WD患者方面比其他可用的检测方法敏感性和特异性较低。相比之下，更容易获得的实验室检测，包括碱性磷酸酶、胆红素和血清转氨酶，为诊断WD引起的ALF提供了最快速和准确的方法。
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 g/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%. In conclusion, 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.