Nephropathic cystinosis

Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder leading to end-stage renal disease and many extra-renal complications with crystal deposition in the conjunctiva and cornea being the most prominent. It is caused by mutations in the CTNS gene on chromosome 17p13, which encodes the lysosomal cystin transporter cystinosin Central column of treatment is a depletion therapy with cysteamine that has proven to slow down progression of renal failure and to prevent or slow down extra-renal manifestations, even though it is not a curative therapy.

Types There are three different forms of cystinosis, which differ in age at manifestation and severity of the symptoms: (i) infantile nephropathic cystinosis, which is the most common and severe form; (ii) juvenile nephropathic cystinosis, which is characterized by later onset of symptoms and slower progression; and (iii) non-nephropatic cystinosis, with a mainly ocular manifestation, also known as adult form. Each form shows different mutations in the CTNS gene

NIH genetic and rare disease info

• NIH info on Nephropathic cystinosis

Nephropathic cystinosis is a rare disease.

Nephropathic cystinosis Resources
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