网站首页  英汉词典

请输入您要查询的英文单词:

 

单词 cystinosis
释义

cystinosis /ˌsisti'nəusis/

英汉-汉英词典
n. 胱氨酸贮积症(一种先天性代谢疾患,其特点为胱氨酸尿以及胱氨酸晶体沉积于机体器官内)
词组 | 习惯用语
您要查找的是不是:
  • insistence n. 坚持;强调;坚决主张
  • cytosine n. [生]胞嘧啶;胞核嘧啶
  • trichinosis n. 旋毛虫病;毛线虫病
  • cytolysis n. 细胞溶解
cystinosis n. [医] 胱氨酸病

网络短语:
Late-onset cystinosis 迟发性胱氨酸病
juvenile cystinosis 幼年期胱氨酸病
adolescent cystinosis 青春期胱氨酸病
benign cystinosis 良性胱氨酸病
cystinosis detail 胱氨酸病
cystinosis gene 胱氨酸病基因
Intermediate cystinosis 中间型胱氨酸病
onset cystinosis 释义迟发性胱氨酸病
nePHropathic cystinosIS 治疗肾病型胱胺酸症
infantile nephropathic cystinosis 婴儿肾病性胱氨酸病
中文百科

胱胺酸症

胱胺酸症英语:Cystinosis)是溶小体贮积症的一种,因第17对染色体短臂13位置的CTNS基因发生缺损,导致将胱胺酸携出溶小体的运输酶功能异常,胱胺酸堆积溶小体上,进而造成器官的病变。

其发生率为1/200000。

遗传方面,其遗传方式为体染色体隐性遗传疾病。

英语百科

Cystinosis 胱胺酸症

Slit-lamp photographs of three-year-old patient with nephropathic cystenosis before (left) and after (right) cysteamine eyedrop therapy. The drops dissolve the crystals in the cornea.
Cystinosis has an autosomal recessive pattern of inheritance.

Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal tubules are impaired, leading to abnormal amounts of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates.

随便看

 

英汉网英语在线翻译词典收录了3779314条英语词汇在线翻译词条,基本涵盖了全部常用英语词汇的中英文双语翻译及用法,是英语学习的有利工具。

 

Copyright © 2004-2024 encnc.com All Rights Reserved
更新时间:2025/6/20 23:29:29