肝豆?fàn)詈俗冃院喜⒃l(fā)性肝癌一例并文獻復(fù)習(xí)

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關(guān)鍵詞：肝豆?fàn)詈俗冃?；原發(fā)性肝癌；肝硬化

中圖分類號：R735.7 文獻標(biāo)識碼：B 文章編號：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?fàn)詈俗冃裕╤epatolenticulardegeneration，HD）是一種常染色體隱性遺傳病，其發(fā)病機制是位于13號染色體上的ATP7B基因發(fā)生突變，使同名的銅轉(zhuǎn)運蛋白出現(xiàn)功能障礙，從而導(dǎo)致排銅受損，銅在胞質(zhì)中的積聚及銅藍蛋白合成的減少會導(dǎo)致血液中未結(jié)合的銅增加，進而導(dǎo)致銅進一步在多器官中積聚，嚴(yán)重時可導(dǎo)致多器官功能衰竭[1]。（剩余10036字）