Supplementary Material for: Diagnostic Pitfalls in Wilson Disease with Autoimmune Features: A Case Report

Introduction: Wilson's disease is a rare inherited disorder caused by mutations in the copper transporter ATP7B. Case presentation: We present the case of a 33-year-old woman who was admitted with decompensated liver cirrhosis, initially suspected to have autoimmune hepatitis and treated with corticosteroids without improvement. Further investigation confirmed the diagnosis of Wilson disease. Despite initiating penicillamine therapy, the patient’s condition worsened, requiring urgent liver transplantation. Conclusion: This case highlights the diagnostic challenges of Wilson’s disease, given its rarity and mimicry of other conditions, particularly when accompanied by autoimmune features, underscoring the importance of early referral for transplantation.

引言：威尔逊病（Wilson's disease）是一种由铜转运蛋白ATP7B（copper transporter ATP7B）突变引发的罕见遗传性疾病。
病例报告：本文报告1例33岁女性患者，因失代偿期肝硬化入院，初始疑似自身免疫性肝炎，予糖皮质激素治疗后病情无改善。进一步检查确诊为威尔逊病。尽管启动青霉胺治疗，患者病情仍恶化，需紧急行肝移植术。
结论：本病例凸显了威尔逊病的诊断难点——该病罕见且临床表现可模拟其他疾病，尤其当伴随自身免疫特征时，强调了早期转诊行肝移植的重要性。