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单词 Wilsons disease
释义

Wilsons disease

中文百科

肝豆状核变性 Wilson's disease

(重定向自Wilsons disease)
凯-费环

肝豆状核变性(英语:hepatolenticular degeneration),亦称为威尔森氏症(英语:Wilson's Disease),是一种罕见的进行性遗传疾病,大多为隐性遗传,患者会从父母身上各遗传到一条带有缺陷基因的染色体,也有些患者是自己的基因突变,导致无法正常代谢体内的铜元素,进而堆积在肝脏和其他器官,产生毒性。以肝脏和大脑基底节受病影响最为严重,但若能及早治疗,使用排铜药物,即可减少损害,可惜这种病常被忽略而延误诊断、治疗。由于肝豆状核变性是一种遗传疾病,目前并没有任何药物可以治愈此症。其发生率为三万分之一,多在青春期过后18至21岁间的青少年中起病,其中男性病患者略多于女性,最常患此症的种族为拉丁美洲人。

英语百科

Wilson's disease 肝豆状核变性

(重定向自Wilsons disease)
A video explanation of Wilson's disease
Wilson's disease has an autosomal recessive pattern of inheritance.
Normal absorption and distribution of copper. Cu = copper, CP = ceruloplasmin, green = ATP7B carrying copper.

Wilson's disease also called Wilson disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.

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更新时间:2025/6/20 12:13:53