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摘要: <正>肝豆状核变性是由于ATP7B基因突变导致体内铜代谢障碍的一种遗传代谢性疾病。体内蓄积的铜逐渐沉积至肝脏、脑、肾脏、骨骼、角膜等器官,引起相应部位异常改变。铜离子在神经系统的沉积还可引起不同的精神类症状,临床以精神症状起病的肝豆状核变性患者越来越多见,但仍有较高的误诊、漏诊率,本病例报道以双相障碍为首发症状的肝豆状核变性1例,以引起对相关疾病的重视。1病例资料患者女性,24岁。12年前因发热就诊于当地医院发现
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Key words:
- hepatolenticular degeneration /
- bipolar disorder /
- case reports
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[1] PATIL M, SHETH KA, KRISHNAMURTHY AC, et al. A review and current perspective on Wilson disease[J]. J Clin Exp Hepatol, 2013, 3 (4) :321-336. [2] BANDMANN O, WEISS KH, KALER SG. Wilson's disease and other neurological copper disorders[J]. Lancet Neurol, 2015, 14 (1) :103-113. [3] SVETEL M, POTREBIC'A, PEKMEZOVIC'T, et al. Neuropsychiatric aspects of treated Wilson’s disease[J]. Parkinsonism Relat Disord, 2009, 15 (10) :772-775. [4] ZIMBREAN PC, SCHILSKY ML. Psychiatric aspects of Wilson disease:A review[J]. Gen Hosp Psychiatry, 2014, 36 (1) :53-62. [5] MAO JX, ZOU Y, GUO WY. Clinical effect of liver transplantation in the treatment of hepatolenticular degeneration[J]. J Clin Hepatol, 2017, 33 (10) :1977-1980. (in Chinese) 毛家玺, 邹游, 郭闻渊.肝移植治疗肝豆状核变性的效果观察[J].临床肝胆病杂志, 2017, 33 (10) :1977-1980.
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