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词汇 Niemann Pick disease
分类 英语词汇 英语翻译词典
释义

Niemann Pick disease

中文百科

尼曼匹克症 Niemann–Pick disease

(重定向自Niemann Pick disease)

尼曼匹克症(Niemann-Pick disease),是一种脂质代谢异常的遗传疾病。过量脂类累积于病人的肝脏、肾脏、脾脏、骨髓等,甚至脑部,而造成这些器官的病变。遗传模式为体染色体隐性遗传,也就是说患病的男女比例相同,在父母双方都带因的状况下,子女有25%的机会患病。

英语百科

Niemann–Pick disease 尼曼匹克症

(重定向自Niemann Pick disease)
Niemann–Pick disease has an autosomal recessive pattern of inheritance.
Niemann pick cell in spleen

Niemann–Pick disease (/nmənˈpɪk/ nee-mən-PIK) is a group of inherited severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.

The prognosis is individual but the severe form is fatal in toddlerhood and the milder forms may even in some cases have a normal lifespan.

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