以精神障碍为首发症状的肝豆状核变性1例报告

崔园园; 杨以良; 王莎莎; 华瑞

doi:10.3969/j.issn.1001-5256.2016.11.037

以精神障碍为首发症状的肝豆状核变性1例报告

DOI: 10.3969/j.issn.1001-5256.2016.11.037

吉林大学第一医院肝胆胰内科

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中图分类号: R742.4
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出版历程
- 出版日期: 2016-11-20

A case of hepatolenticular degeneration with mental disorder as initial symptomc

摘要

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。
- 肝豆状核变性 /
- 精神障碍 /
- 病例报告
- hepatolenticular degeneration /
- mental disorders /
- case reports

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参考文献(6)

[1]Parkinson's Disease and Movement Disorders Study Group,Neurology Branch of Chinese Medical Association.Guidelines for the diagnosis and treatment of hepatolenticular degeneration[J].Chin J Neurol,2008,41(8):566-569.(in Chinese)中华医学会神经病学分会帕金森病及运动障碍学组.肝豆状核变性的诊断与治疗指南[J].中华神经科杂志,2008,41(8):566-569.

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[3]CHAN KH,CHEUNG RTF,AU-YEUNG KM,et al.Wilson's disease with depression and parkinsonism[J].J Clin Neurosci,2005,12(3):303.

[4]PORTALA K,WESTERMARK K,EKSELIUS L,et al.Personality traits in treated Wilson's disease determined by means of the Karolinska Scales of Personality(KSP)[J].Eur Psychiatry,2001,16(6):362-371.

[5]MEHTA R,TEMPLETON DM,O'BRIEN PJ.Mitochondrial involvement in genetically determ in edtransition metal toxicityⅡCopper toxicity[J].Chem Biol Interact,2006,163(1-2):77-85.

[6]PORTALA K,WALDENSTR ME,von KNORRING L,et al.Psychopathology and personality traits in patients with treated Wilson disease grouped according to gene mutations[J].Ups J Med Sci,2008,113(1):79-94.

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