Lopes Sara Ramos, Teixeira Madalena, Sequeira Cristiana, Carvalho Ana, Gamito Élia, Alves Ana Luísa
Gastrenterology Department, Unidade Local de Saúde da Arrábida, Setúbal, Portugal.
Pathology Department, Unidade Local de Saúde da Arrábida, Setúbal, Portugal.
GE Port J Gastroenterol. 2025 Jun 5. doi: 10.1159/000546205.
Wilson's disease is a rare inherited disorder caused by mutations in the copper transporter ATP7B.
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.
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.
威尔逊病是一种由铜转运蛋白ATP7B基因突变引起的罕见遗传性疾病。
我们报告一例33岁女性患者，因失代偿性肝硬化入院，最初怀疑患有自身免疫性肝炎并接受了皮质类固醇治疗，但病情无改善。进一步检查确诊为威尔逊病。尽管开始使用青霉胺治疗，但患者病情仍恶化，需要紧急肝移植。
鉴于威尔逊病的罕见性及其与其他疾病的相似性，尤其是伴有自身免疫特征时，本病例凸显了其诊断挑战，强调了早期转诊进行移植的重要性。
