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A case of Wilson’s disease with central diabetes insipidus as the initial manifestation
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摘要:
<正>肝豆状核变性（hepatolenticular degeneration,HLD）,又称Wilson病,是一种常染色体隐性遗传的铜代谢障碍性疾病[1],该病在世界范围内的发病率为1/3万～1/10万[2],是至今少数早期诊断及正确治疗可以得到较好疗效的遗传代谢性疾病之一。其主要发病机制为13号染色体上ATP7B基因纯合或复合杂合突变,导致其编码产物ATP7B的功能缺陷,引起血清铜蓝
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