肝豆状核变性合并多囊卵巢综合征1例报告

黄德良; 朱质斌; 禹弘; 赵琦; 蒋金艳; 陈圆圆; 戴炜

doi:10.3969/j.issn.1001-5256.2018.10.027

肝豆状核变性合并多囊卵巢综合征1例报告

DOI: 10.3969/j.issn.1001-5256.2018.10.027

深圳市第三人民医院肝病四科

详细信息

中图分类号: R742.4;R711.75
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出版历程
- 出版日期: 2018-10-20

Hepatolenticular degeneration with polycystic ovary syndrome: a case report

Fourth Department of Hepatology, The Third People′s Hospital of Shenzhen

摘要

摘要:
<正>肝豆状核变性是一种罕见的铜代谢常染色体隐性遗传病。由于ATP-7B基因突变引起胆道排泄铜障碍导致肝脏、大脑基底节、肾脏和角膜组织中铜的异常蓄积。可导致重要器官,特别是肝脏、大脑的受损,如不恰当治疗将会致残甚至致死[1-2]。肝豆状核变性起病临床症状及伴随疾病不一,本文报道1例肝豆状核变性伴多囊卵巢综合征患者。1病例资料患者女性,16岁,主因"闭经、双下肢浮肿1年余,加重10
- 肝豆状核变性 /
- 多囊卵巢综合征 /
- 病例报告
- hepatolenticular degeneration /
- polycystic ovary syndrome /
- case reports

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参考文献(9)

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[2]Parkinson’s Disease and Movement Disorders Study Group, Neurology Branch of Chinese Medical Association;Inherited Disease 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, 中华医学会神经病学分会遗传病学组.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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[4] Endocrine Study Group and Expert Group, Chinese Society of Obstetrics and Gynecology, Chinese Medical Association.Chinese guidelines for the diagnosis and treatment of polycystic ovary syndrome[J].Chin J Obstetr Gynecol, 2018, 53 (1) :2-6. (in Chinese) 中华医学会妇产科学分会内分泌学组及指南专家组.多囊卵巢综合征中国诊疗指南[J].中华妇产科杂志, 2018, 53 (1) :2-6.

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[7]KAUSHANSKY A, FRYDMAN M, KAUFMAN H, et al.Endocrine studies of the ovulatory disturbances in Wilson’s disease (hepatolenticular degeneration) [J].Fertil Steril, 1987, 47 (2) :270-273.

[8]ZHAO LX, YANG RM, HU JY, et al.Function of the hypothalamus-pituitary-ovarian axis in female patients with hepatolenticular degeneration[J].Chin J Neurol, 2000, 33 (6) :349-351. (in Chinese) 赵连旭, 杨任民, 胡纪原, 等.女性肝豆状核变性下丘脑-垂体-卵巢轴功能研究[J].中华神经科杂志, 2000, 33 (6) :349-351.

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