Delle Cave Valeria, Di Dato Fabiola, Iorio Raffaele
Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.
Children (Basel). 2024 Jan 6;11(1):68. doi: 10.3390/children11010068.
Wilson's disease (WD) with acute onset poses a diagnostic challenge because it is clinically indistinguishable from other acute liver diseases. In addition, serum ceruloplasmin and urinary copper excretion, the first-line diagnostic tools for WD, can show false positive results in the case of acute liver failure, and the diagnostic role of genetic analysis is limited by the time required to perform it. In the case of fulminant onset, there is a clear indication of liver transplantation. "New Wilson Index" is frequently used to discriminate between patients who need liver transplantation versus those who can be successfully managed by medical treatment, but its reliability remains controversial. Timely referral of patients with acute liver failure due to WD may be a key factor in improving patient survival. Although liver transplant very often represents the only chance for such patients, maximum effort should be made to promote survival with a native liver. The management of these aspects of WD is still a matter of debate and will be the subject of this review.
急性起病的威尔逊病（WD）在诊断上具有挑战性，因为其临床表现与其他急性肝病难以区分。此外，WD的一线诊断工具血清铜蓝蛋白和尿铜排泄量，在急性肝衰竭时可能出现假阳性结果，而基因分析的诊断作用也受限于其所需时间。在暴发性起病的情况下，肝移植有明确指征。“新威尔逊指数”常用于区分需要肝移植的患者和可通过药物治疗成功管理的患者，但其可靠性仍存在争议。WD所致急性肝衰竭患者的及时转诊可能是提高患者生存率的关键因素。尽管肝移植常常是这类患者的唯一机会，但应尽最大努力促进患者自体肝脏存活。WD这些方面的管理仍存在争议，将是本综述的主题。
