Kido Jun, Matsumoto Shirou, Sakamoto Rieko, Mitsubuchi Hiroshi, Inomata Yukihiro, Nakamura Kimitoshi
Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto City, Kumamoto, Japan.
Department of Transplantation and Pediatric Surgery, Graduate School of Medical Sciences, Kumamoto University, Kumamoto City, Kumamoto, Japan.
Pediatr Transplant. 2018 Dec;22(8):e13292. doi: 10.1111/petr.13292. Epub 2018 Oct 27.
Wilson disease (WD) is a disorder of copper metabolism that leads to liver cirrhosis. WD patients with a NWIS > 11 should receive LT; however, we encountered 2 WD patients with an NWIS > 11 who recovered from ALF without LT. The present report aimed to analyze cases of WD patients with a high NWIS who recovered from severe ALF and to discuss the clinical manifestations of the patients and the effects of treatments, including zinc (Zn) therapy, chelator therapy, PE, CHDF, and LT. We retrospectively evaluated the medical records of five patients (male, 2; female, 3) diagnosed with WD along with severe ALF. In cases 1, 2, and 3, complete recovery from ALF was noted without LT. In case 4, initial recovery from ALF was noted without LT; however, ALF worsened owing to bleeding from the esophageal varix. Thus, the patient eventually needed LT. In case 5, recovery from ALF was noted with LT. All cases, except case 2, showed ALF with maximum PELD/MELD scores ≥26 and NWISs ≥ 11, and had indications for LT. In cases of severe ALF with grade I or II encephalopathy, we recommend evaluations of the effects of Zn and chelator treatments while preparing for LT, as the condition may not improve without LT, and pediatricians or physicians can ask transplant surgeons to perform LT urgently if required.
威尔逊病（WD）是一种铜代谢紊乱疾病，可导致肝硬化。NWIS＞11的WD患者应接受肝移植（LT）；然而，我们遇到了2例NWIS＞11的WD患者，他们在未进行肝移植的情况下从急性肝衰竭（ALF）中康复。本报告旨在分析NWIS较高且从严重ALF中康复的WD患者病例，并讨论患者的临床表现以及包括锌（Zn）疗法、螯合剂疗法、血浆置换（PE）、连续性血液透析滤过（CHDF）和肝移植在内的治疗效果。我们回顾性评估了5例被诊断为WD并伴有严重ALF的患者（男性2例，女性3例）的病历。在病例1、2和3中，未进行肝移植即实现了从ALF的完全康复。在病例4中，未进行肝移植时最初实现了从ALF的康复；然而，由于食管静脉曲张出血，ALF病情恶化。因此，该患者最终需要进行肝移植。在病例5中，通过肝移植实现了从ALF的康复。除病例2外，所有病例均表现为ALF，最大PELD/MELD评分≥26且NWIS≥11，并有肝移植指征。对于患有I级或II级脑病的严重ALF病例，我们建议在准备肝移植的同时评估锌和螯合剂治疗的效果，因为如果不进行肝移植病情可能无法改善，并且如果需要，儿科医生或内科医生可以要求移植外科医生紧急进行肝移植。
