[A case of Wilson's disease misdiagnosed as autoimmune hepatitis and literature review]

L F Chen; Y P Wan; L M Xiao; D Li; Z L Wen; L L Yang

doi:10.3760/cma.j.cn501113-20240411-00193

[A case of Wilson's disease misdiagnosed as autoimmune hepatitis and literature review]

Zhonghua Gan Zang Bing Za Zhi. 2024 Nov 11:32:1-5. doi: 10.3760/cma.j.cn501113-20240411-00193. Online ahead of print.

[Article in Chinese]

Authors

L F Chen¹, Y P Wan¹, L M Xiao¹, D Li¹, Z L Wen¹, L L Yang²

Affiliations

¹ Department of Gastroenterology, the Second Affiliated Hospital of Nanchang University, Nanchang330006, China.
² Department of Gastroenterology, the Second Affiliated Hospital of Nanchang University, Nanchang330006, China Department of Molecular Bioscience, the University of Kansas, Lawrence66045, USA.

PMID: 39528314
DOI: 10.3760/cma.j.cn501113-20240411-00193

Abstract

肝豆状核变性又称Wilson病，是因铜转运ATP酶β（ATP7B）基因突变而导致的铜代谢障碍性疾病，是一种常染色体隐性遗传的罕见疾病，其临床表现多样，以肝脏、神经及精神系统症状最为常见。由于Wilson病可表现为淋巴细胞和浆细胞浸润、界面炎等自身免疫性肝炎（AIH）的肝脏病理特点，且临床指标可表现为转氨酶升高、自身免疫性抗体阳性，常导致难以与AIH相鉴别。现报道南1例易误诊为AIH的Wilson病，并进行相关文献复习，以期为Wilson病的临床诊治提供借鉴。.

Abstract

Grants and funding