Cystinosis is an autosomal recessive disorder associated with >100 mutations in the CTNS gene that are known to lead to defective function or absence of the cystine transporter cystinosin.1-4 The wide variety of mutations accounts for the broad spectrum of symptoms.4-6
1. Elmonem MA, Veys KR, Soliman NA, van Dyck M, van den Heuvel LP, Levtchenko E. Cystinosis: a review. Orphanet J Rare Dis. 2016;11:47. Published April 22, 2016. 2. Brodin-Sartorius A, Tête MJ, Niaudet P, et al. Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int. 2012;81(2):179-189. 3. Goodyer P. The history of cystinosis: lessons for clinical management. Int J Nephrol. 2011;2011:929456. 4. Jamalpoor A, Othman A, Levtchenko EN, Masereeuw R, Janssen MJ. Molecular mechanisms and treatment options of nephropathic cystinosis. Trends Mol Med. 2021;27(7):673-686. 5. Anikster Y, Lucero C, Guo J, et al. Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatr Res. 2000;47(1):17-23. 6. Thoene J, Lemons R, Anikster Y, et al. Mutations of CTNS causing intermediate cystinosis. Mol Genet Metab. 1999;67(4):283-293. 7. Cystinosis Research Network. Cystinosis Parent Handbook. Accessed April 2021. https://www.cystinosis.org/wp-content/uploads/2019/01/CRN_ParentHandbook_FINAL_web.pdf
