Paediatric Liver, GI and Nutrition Centre, MowatLabs, King's College Hospital, Denmark Hill, London, United Kingdom.
Division of Gastroenterology and Hepatology, Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.
J Pediatr Gastroenterol Nutr. 2022 Apr 1;74(4):510-515. doi: 10.1097/MPG.0000000000003372. Epub 2021 Dec 14.
Liver transplantation (LT) in Wilson disease (WD) is a life-saving option for patients presenting with liver failure and encephalopathy. Patients without encephalopathy can avoid LT and treated successfully with chelation therapy. It is essential to predict the risk of fatal outcomes where LT is required. We aim to critically analyse the validity of the WD Index prospectively from a cohort of WD patients managed at our institution.
WD Index and other clinical data from 2005 to 2018, recorded prospectively as part of clinical management, were analysed.
Over 13-year period, 52 children with WD (29 boys) with median age at diagnosis of 11.69 (range 3.92-17.26) years were studied. Of these, 17 were diagnosed as part of family screening, 17 presented with abnormal liver enzyme, and 18 with acute hepatic decompensation (AHD) as per PALF definition. Patients presented with abnormal liver enzyme and in the pre-symptomatic group had WD Index <11, and none of them required LT. WD Index is still a good predictor for LT in WD patients with AHD, providing a sensitivity of 80%, specificity of 100%, positive-predictive, and negative-predictive value of 100% and 80%, respectively. Patients presented with an index of 8-10 also required LT at median duration of 58 days (IQR 48-135 days).
WD patients presenting with AHD who had an index of ≥11 do require LT. Children with a WD Index of 8 to 10 within the first 2 months of admission require close monitoring as LT may become necessary.
对于出现肝功能衰竭和脑病的肝豆状核变性（WD）患者，肝移植（LT）是一种挽救生命的选择。没有脑病的患者可以避免 LT，并通过螯合疗法成功治疗。预测需要 LT 的致命结局的风险至关重要。我们旨在通过我们机构管理的 WD 患者队列，对 WD 指数进行前瞻性地严格分析。
对 2005 年至 2018 年期间前瞻性记录的 WD 指数和其他临床数据进行分析。
在 13 年期间，研究了 52 名 WD 儿童（29 名男性），中位诊断年龄为 11.69 岁（范围 3.92-17.26 岁）。其中 17 名是作为家族筛查诊断的，17 名表现为异常肝酶，18 名根据 PALF 定义出现急性肝失代偿（AHD）。表现为异常肝酶且处于无症状组的患者 WD 指数<11，他们均无需 LT。WD 指数仍然是预测 WD 患者 AHD 所需 LT 的良好指标，其敏感性为 80%，特异性为 100%，阳性预测值和阴性预测值分别为 100%和 80%。WD 指数为 8-10 的患者也在中位 58 天（48-135 天）时需要 LT。
出现 AHD 的 WD 患者，指数≥11 时确实需要 LT。入院后前 2 个月 WD 指数为 8 至 10 的儿童需要密切监测，因为可能需要 LT。
