Diamond Ethan, Newman Jacob, Schalet Reid, Lap Coen J, Abutaleb Ameer O
The George Washington University School of Medicine, Washington, DC.
The George Washington Transplant Institute, The George Washington University MFA, Washington, DC.
ACG Case Rep J. 2023 Jul 7;10(7):e01084. doi: 10.14309/crj.0000000000001084. eCollection 2023 Jul.
Wilson disease (WD) is estimated present in 6%-12% of patients younger than 40 years hospitalized with acute liver failure (ALF). Fulminant WD carries a poor prognosis without treatment. A 36-year-old man with HIV, chronic hepatitis B virus, and alcohol use had ceruloplasmin 6.4 mg/dL and 24-hour urine copper 180 μg/L. WD workup was otherwise negative, including ophthalmic examination, hepatic copper quantification, ATP7B sequencing, and brain MRI. ALF commonly features copper dysregulation. Few studies on WD biomarkers have included fulminant WD. Our patient with WD biomarkers and other causes of liver failure highlights the need to study copper dysregulation in ALF.
据估计，在因急性肝衰竭（ALF）住院的40岁以下患者中，威尔逊病（WD）的患病率为6%-12%。暴发性WD若不治疗，预后较差。一名36岁男性，患有HIV、慢性乙型肝炎病毒感染且有饮酒史，其血浆铜蓝蛋白为6.4mg/dL，24小时尿铜为180μg/L。WD的其他检查结果均为阴性，包括眼科检查、肝脏铜定量、ATP7B测序和脑部MRI。ALF的常见特征是铜代谢失调。关于WD生物标志物的研究很少包括暴发性WD。我们这位有WD生物标志物及其他肝衰竭病因的患者凸显了研究ALF中铜代谢失调的必要性。
