Beyzaei Zahra, Ghatei Kiana, Shamsaeefar Alireza, Kazemi Kurosh, Nikeghbalian Saman, Bahador Ali, Dehghani Masoud, Malekhosseini Seyed-Ali, Geramizadeh Bita
Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Hepatobiliary Surgery, Abu-Ali-Sina Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Orphanet J Rare Dis. 2025 Jun 10;20(1):292. doi: 10.1186/s13023-025-03827-9.
Wilson disease is a complex genetic disorder due to copper accumulation, mainly in the liver and brain. It is associated with severe liver disease, which is effectively cured by liver transplantation (LT). This study aimed to analyze the outcome of Wilson disease after LT from a single center in Iran.
In this study, we analyzed data from Wilson patients and donors who received LT from March 2018 to December 2022 at Shiraz University of Medical Sciences, Shiraz. Long-term follow-up and post-LT outcomes for both deceased donor LT (DDLT) and living donor LT (LDLT) were measured. The Kaplan-Meier survival analysis was used to test the survival.
106 recipients with LT (LDLT, n = 22; DDLT, n = 84) were included (mean age of adult and pediatric: 33.1 and 10.8 years respectively; male: 58% and female 42%). The average serum ceruloplasmin and urinary copper levels improved in most patients, with values of 15.6 mg/dL and 32.3 µg per 24 h, respectively. For pediatric patients with Wilson's disease, the survival rates at 6 months, 1 year, and 3 years were 97.0%, 96%, and 94.5%, and in adult patients achieved survival rates of 100%, 100%, and 75% at 6 months, 1 year, and 3 years, respectively.
LT is considered as a principal therapeutic option with good long-term results in Wilson patients, even in those presenting with hepatic failure. Neurologic manifestations have been improved post-LT; however, de novo neuropsychiatric symptoms begin in some cases after successful liver transplantation.
威尔逊病是一种复杂的遗传性疾病，由于铜蓄积，主要在肝脏和大脑中。它与严重的肝脏疾病相关，肝移植（LT）可有效治愈该疾病。本研究旨在分析伊朗一个单一中心肝移植后威尔逊病的结局。
在本研究中，我们分析了2018年3月至2022年12月在设拉子医科大学接受肝移植的威尔逊病患者和供体的数据。测量了已故供体肝移植（DDLT）和活体供体肝移植（LDLT）的长期随访和肝移植后结局。采用Kaplan-Meier生存分析来检验生存率。
纳入了106例接受肝移植的受者（LDLT，n = 22；DDLT，n = 84）（成人和儿童的平均年龄分别为33.1岁和10.8岁；男性：58%，女性42%）。大多数患者的平均血清铜蓝蛋白和尿铜水平有所改善，分别为15.6mg/dL和每24小时32.3μg。对于威尔逊病儿科患者，6个月、1年和3年的生存率分别为97.0%、96%和94.5%，而成人患者在6个月、1年和3年时的生存率分别为100%、100%和75%。
肝移植被认为是威尔逊病患者的主要治疗选择，长期效果良好，即使是那些出现肝衰竭的患者。肝移植后神经症状有所改善；然而，在一些成功肝移植后的病例中会出现新的神经精神症状。
