Spirea Daniela, Vanlemmens Claire, Parant François, Antonini Teresa, Bost Muriel, Lachaux Alain, Belmalih Abdelouahed, Guillaud Olivier, Dumortier Jerome, Couchonnal Eduardo
Pediatric Gastroenterology, Children Clinical Hospital of Brasov, Brasov, Romania.
Hepatology and Intensive Digestive Care Department, Hôpital Jean Minjoz, Besançon, France.
J Inherit Metab Dis. 2025 Mar;48(2):e70024. doi: 10.1002/jimd.70024.
Acute liver failure (ALF) can be one of the manifestations of Wilson disease (WD), and due to its severity, prompt diagnosis is essential. A ratio > 15% of the exchangeable copper to total serum copper, known as relative exchangeable copper (REC), has been shown to have a 100% sensitivity and specificity for the diagnosis of WD but this has not yet been studied in an ALF setting. Patients diagnosed with ALF from 1 November 2011 to 31 December 2023, with available REC determination during the acute event, were included. Thirty-three patients were included (11 with WD and 22 without WD). The median age [IQR] at ALF was 12.9 [8.9-20.2] years, range: 0.6-71.0 years. Serum ceruloplasmin (Cp) < 0.20 g/L and 24 h urinary copper excretion > 1.6 μmol/L had both a sensitivity (Se) and specificity (Sp) for the diagnosis of WD of 100% and 72.7%, respectively. A ROC analysis of REC determined that the best cut-off point was 14.4% (AUC 1, p < 0.01). All the WD patients had REC values > 14.4%, yielding a sensitivity and specificity of 100. Relative exchangeable copper has 100% sensitivity and specificity for diagnosing Wilson disease in acute liver failure. Relative exchangeable copper has excellent performance in diagnosing Wilson disease in acute liver failure.
急性肝衰竭（ALF）可能是威尔逊病（WD）的表现之一，鉴于其严重性，及时诊断至关重要。可交换铜与血清总铜的比例>15%，即相对可交换铜（REC），已被证明对WD的诊断具有100%的敏感性和特异性，但尚未在ALF背景下进行研究。纳入2011年11月1日至2023年12月31日期间诊断为ALF且在急性事件期间可进行REC测定的患者。共纳入33例患者（11例患有WD，22例未患有WD）。ALF患者的中位年龄[四分位间距]为12.9[8.9 - 20.2]岁，范围：0.6 - 71.0岁。血清铜蓝蛋白（Cp）<0.20 g/L和24小时尿铜排泄>1.6 μmol/L对WD诊断的敏感性（Se）和特异性（Sp）分别为100%和72.7%。对REC进行的ROC分析确定最佳截断点为14.4%（曲线下面积1，p<0.01）。所有WD患者的REC值均>14.4%，敏感性和特异性均为100%。相对可交换铜对急性肝衰竭中威尔逊病的诊断具有100%的敏感性和特异性。相对可交换铜在急性肝衰竭中诊断威尔逊病方面具有出色的表现。
