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单词 Cockayne syndrome
释义

Cockayne syndrome

中文百科

柯凯因氏症候群

柯凯因氏症候群是早熟性老化的遗传病,婴儿月数为6-12月时与正常无异,但其后身高、体重及头围都会小于平均正常值,造成「恶病性侏儒」、皮肤及毛发变薄、眼睛下陷、弓身站立的姿势等显示出老化的过程,同时脑部有严重的神经元丧失,亦出现「去髓鞘作用」。

其发生率为1/250000。

遗传方面,其遗传方式为体染色体隐性遗传方式,男女患病机会同等。

英语百科

Cockayne syndrome 柯凯因氏症候群

Cockayne syndrome has an autosomal recessive pattern of inheritance.

Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies, which are conditions characterized by degradation of neurological white matter. The underlying disorder is a defect in a DNA repair mechanism. Unlike other defects of DNA repair, patients with CS are not predisposed to cancer or infection. Cockayne syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. The mutation of specific genes in Cockayne syndrome is known, but the widespread effects and its relationship with DNA repair is yet to be well understood.

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更新时间:2025/6/17 23:33:08