A case of hepatolenticular degeneration with mental disorder as initial symptomc
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摘要:
<正>肝豆状核变性是一种常染色体隐性单基因遗传病,是位于13q14.3的ATP7B基因突变,导致铜蓝蛋白合成障碍,引起细胞内铜离子的跨膜转运障碍,过量的铜沉积在肝脏、肾脏、大脑、角膜等部位,引起肝肾功能异常、神经精神症状、角膜K-F环等。其中以精神障碍为首发症状者较为少见,易造成漏诊和误诊,极易误诊为精神疾病。为提高对本病的认识,减少误诊,现报告以精神障碍为首发症状的肝豆状核变性1例如下。
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Key words:
- hepatolenticular degeneration /
- mental disorders /
- case reports
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