肝豆状核变性合并原发性肝癌一例并文献复习

打开文本图片集

关键词：肝豆状核变性；原发性肝癌；肝硬化

中图分类号：R735.7 文献标识码：B 文章编号：1000-503X（2025）02-0319-06

DOI：10.3881/j. issn.1000-503X.16152

Hepatolenticular Degeneration With Primary Liver Cancer： Report of One Case and Review of the Literature

WANG Hui1，DU Jialin'，YANG Qingya²，HAO Diandian'，ZHANG Mingyuan ，WEN Xiaoyu' Department of Hepatology，Center of Infectious Diseases and Pathogen Biology， TheFirst Hospital of Jilin University，Changchun13OO21，China ²Changchun University of Chinese Medicine， Changchun 130o0，China

Correspondingauthor：WENXiaoyu Tel：15804301609，E-mail：xywen@jlu.edu.cn

ABSTRACT：Hepatolenticular degeneration isa rare disease，and the number of cases of primary liver cancer occuring on the basis of liver cirrhosis caused by hepatolenticular degeneration is very small.This paper reports a case of hepatolenticular degeneration with primary liver cancer，and then reviews and summarizes current cases of this disease both domestically and internationally.

Key Words：hepatolenticular degeneration；primary liver cancer; liver cirrhosis

ActaAcadMed Sin，2025，47（2）：319-324

肝豆状核变性（hepatolenticulardegeneration，HD）是一种常染色体隐性遗传病，其发病机制是位于13号染色体上的ATP7B基因发生突变，使同名的铜转运蛋白出现功能障碍，从而导致排铜受损，铜在胞质中的积聚及铜蓝蛋白合成的减少会导致血液中未结合的铜增加，进而导致铜进一步在多器官中积聚，严重时可导致多器官功能衰竭[1]。（剩余10036字）