Nephropathic Cystinosis
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Table of contents
Overview
Nephropathic cystinosis is a genetic disorder in which the amino acid cystine accumulates in the lysosomes. Lysosomes are vesicles that contain digestive enzymes to metabolize and make proteins. This accumulation results from the inadequate transport of cystine within the cell structure. In nephropathic cystinosis, free cystine accumulates throughout the body and affects every organ, especially the kidneys and eyes.
Nephropathic cystinosis is an inherited metabolic disease caused by a mutation in the gene CTNS, located on the short arm of chromosome 17. The disease is transmitted through a recessive autosomal mechanism. It is a rare disease with an estimated incidence of 1/100,000-200,000 live births.
With proper treatment, the progression of nephropathic cystinosis can be halted or symptoms reduced.
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