Nephropathic cystinosis

Nephropathic cystinosis is a genetic disorder in which the amino acid cystine accumulates in the lysosomes. Lysosomes are vesicles containing digestive enzymes to metabolise and create proteins. This accumulation results from the defective transport of cystine within the cell structure. In nephropathic cystinosis, free cystine accumulates throughout the body and affects every organ, and especially the kidneys and the eyes.

Nephropathic cystinosis is a hereditary metabolic disease, caused by a mutation in the gene CTNS, located on the short arm of chromosome 17. It is transmitted through a recessive autosomal mechanism. It is a rare disease with an incidence estimated to be 1/100,000-200,000 living births.

With proper treatment, Nephropathic cystinosis progression can be halted or symptoms can be reduced.

Recordati Rare Diseases has also supported the development of information for patients and families in several languages.

Click here to download Recordati Rare Diseases' children brochure.

 Click here to download Recordati Rare Diseases' Cys'Teen Transition Guide.

Click here to download Recordati Rare Diseases' Cystinosis Infograph