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单词 Cystinoses
释义

Cystinoses

中文百科

胱胺酸症 Cystinosis

(重定向自Cystinoses)

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

(重定向自Cystinoses)
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.

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更新时间:2025/6/20 18:17:56