Cystinosis is caused by mutations in the CTNS gene encoding for the carrier protein cystinosin that has the task to transport cystin out of the lysosomal compartment. A defect of the cystinosin function results in intra-lysosomal cystin accumulation in all cells. First of all the kidneys are affected, starting with proximal tubular damage during the first year of life, followed by end-stage renal failure during mid-childhood. Also the eyes, thyroid, pancreas and muscles are affected. In some older patients also the CNS can be involved.
Etiology: - defective cystinosin leads to transportation disorder of cystine from lysosome
Gene: CTNS Gene
Mode of inheritance: Autosomal recessive
Infantile nephropathic form
(Age of onset: 6-12 months)
Juvenile nephropathic form
(Age of onset: childhood, adolescence)
At the moment we are not aware of any self-help groups.
At present we have no literature available.