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. 2021 Feb 1;72(2):210-215. doi: 10.1097/MPG.0000000000002982.
In Wilson disease (WD), 24-hour urinary copper excretion (UCE) is recommended to be used for diagnosis. It may be a useful tool to assess the efficacy of treatment during follow-up; however, there are limited data regarding the cutoff value of 24-hour UCE during follow-up in children. Therefore, we aim to evaluate the clinical use of 24-hour UCE during follow-up in children with WD.
Medical records of children diagnosed with WD at Kings' College Hospital from 2005 to 2018 were retrospectively reviewed. The UCE, serum copper, and ceruloplasmin levels, tested during follow-up, were statistically analyzed.
Over the median duration of 7 years (range 1.4-14.4), 28 patients (age ranged 3.8-17.3 years) had UCE tests during follow-up. Of those, 21 patients had at least one 24-hour UCE test and 7 children had only spot UCE tests. In comparison with the level of 24-hour UCE collected at the first visit after penicillamine challenge test, the median excretion rate was significantly reduced over the follow-up period (P < 0.001), from 26.2 to 8.9 μmol/day following 1-2 years of therapy (P = 0.15), then reduced significantly to 2.2 μmol/day after 3-4 years (P = 0.009), and 5.6 μmol/day at >5 years of follow-up (P = 0.003).
Our study suggests that within 1 year of treatment, the level of nonceruloplasmin-bound copper concentration (NCC) drops to <0.8 μmol/L. In the absence of progressive liver disease or signs of copper deficiency, 24-hour UCE decreases to ≤8 μmol/day and <6 μmol/day after 1 and 5 years of treatment, respectively.
在威尔逊病（WD）中，推荐使用 24 小时尿铜排泄量（UCE）进行诊断。它可能是评估治疗期间随访疗效的有用工具；然而，关于儿童随访期间 24 小时 UCE 的临界值的数据有限。因此，我们旨在评估 WD 儿童随访期间 24 小时 UCE 的临床应用。
回顾性分析了 2005 年至 2018 年在国王学院医院诊断为 WD 的儿童的病历。对随访期间检测到的 UCE、血清铜和铜蓝蛋白水平进行了统计学分析。
在中位数为 7 年（范围 1.4-14.4）的随访期间，28 例患者（年龄 3.8-17.3 岁）进行了 UCE 检测。其中，21 例患者至少进行了一次 24 小时 UCE 检测，7 例患儿仅进行了单次 UCE 检测。与青霉胺冲击试验后首次就诊时收集的 24 小时 UCE 排泄率相比，随访期间的中位排泄率显著降低（P<0.001），从治疗 1-2 年后的 26.2μmol/天降至 2.2μmol/天（P=0.009），治疗 3-4 年后显著降至 5.6μmol/天（P=0.003）。
我们的研究表明，在治疗的 1 年内，非铜蓝蛋白结合铜浓度（NCC）水平降至<0.8μmol/L。在没有进行性肝病或铜缺乏迹象的情况下，分别在 1 年和 5 年治疗后，24 小时 UCE 降低至≤8μmol/天和<6μmol/天。
