V2EX lysosomal storage disease

Lysosomal Storage Disease

释义 Definition

溶酶体贮积症:一组多为遗传性的代谢性疾病,由于溶酶体内某些酶或相关蛋白缺陷,导致特定物质(如脂类、糖胺聚糖等)在细胞内无法正常分解而累积,进而损害多个器官(常见累及肝脾、骨骼、神经系统等)。该术语也可指其中任何一种具体疾病(如戈谢病、庞贝病等)。

发音 Pronunciation

/lassoml strd dziz/

例句 Examples

The doctor suspects a lysosomal storage disease.
医生怀疑是溶酶体贮积症。

Because lysosomal storage disease can affect the brain, early diagnosis and supportive care are important for long-term outcomes.
由于溶酶体贮积症可能累及大脑,及早诊断与支持性治疗对长期预后很重要。

词源 Etymology

lysosomal 来自 lysosome(溶酶体):词根源于希腊语 lysis(“分解、溶解”)+ soma(“身体”),指细胞内负责分解回收的“小囊泡”。
storage disease 直译为“贮积性疾病”,强调某种物质在体内(尤其在细胞/组织内)“储存/积过多”的病理特征。合起来就形成“溶酶体贮积症”。

相关词 Related Words

文学与著作中的用例 Literary Works

  • Harrison’s Principles of Internal Medicine(《哈里森内科学》)
  • Robbins and Cotran Pathologic Basis of Disease(《罗宾斯-科特兰 病理学基础》)
  • Nelson Textbook of Pediatrics(《纳尔逊儿科学》)
  • The Metabolic and Molecular Bases of Inherited Disease(《遗传病的代谢与分子基础》)
  • GeneReviews(医学遗传综述资料库,多个条目讨论溶酶体贮积症谱系)
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