Kumar Shiva
Gastroenterology and Hepatology, Cleveland Clinic Abu Dhabi, Abu Dhabi, ARE.
Cureus. 2021 Dec 23;13(12):e20653. doi: 10.7759/cureus.20653. eCollection 2021 Dec.
Emergent living donor liver transplantation in adults with fulminant hepatic failure secondary to Wilson's disease is rarely performed.We report a case of decompensated Wilson's disease presenting with fulminant hepatic failure treated with an emergent living donor liver transplant. A 25-year-old female presented with fulminant hepatic failure and underwent an emergent living donor liver transplant using a left-lobe graft from her brother. Explant revealed a nodular, cirrhotic liver with numerous yellow-green nodules on the cut surface, and histopathology revealed confluent necrosis and cholestasis with positive copper immunostain. Quantitative hepatic copper was 2119 mcg/g (range: 10-35 mcg/g). Recipient genetic testing revealed c.2930C>T p. (Thr977Met) homozygous variant in the ATP7B gene. The donor was heterozygous for the mutation. The recipient continues to do well three years later with normal ceruloplasmin and urinary copper excretion.
针对因威尔逊病继发暴发性肝衰竭的成人患者进行急诊活体肝移植的情况极为罕见。我们报告了一例失代偿性威尔逊病伴暴发性肝衰竭患者接受急诊活体肝移植治疗的病例。一名25岁女性因暴发性肝衰竭就诊，并接受了急诊活体肝移植，移植肝脏取自其兄弟的左叶。切除的肝脏显示为结节性肝硬化，切面有许多黄绿色结节，组织病理学显示融合性坏死和胆汁淤积，铜免疫染色呈阳性。肝脏铜定量为2119 mcg/g（范围：10 - 35 mcg/g）。受体基因检测显示ATP7B基因存在c.2930C>T p.（Thr977Met）纯合变异。供体为该突变的杂合子。三年后，受体情况良好，血浆铜蓝蛋白和尿铜排泄正常。
