Cystinosis

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.

单词	Cystinotic
释义	Cystinotic 英语百科 Cystinosis 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	dismembred的意思 dismembring的意思 dismembyator的意思 disment的意思 dismerit的意思 disme的意思 dismetria的意思 dismettled的意思 dismey的意思 dismicrite的意思 dismight的意思 dismin的意思 dismingle的意思 disminion的意思 disminister的意思 disminobutyric acid的意思 dismiss的意思 dismiss的意思 dismiss的意思 dismiss a case的意思 dismiss a charge的意思 dismissal的意思 dismissal agreed的意思 dismissal and resignation of workers and staff的意思 dismissal compensation的意思

Cystinotic

Cystinosis