Cystinosis Treatment Impact Visualizer

Symptoms of cystinosis often begin presenting around 6 months of age.1-3 Historically, patients with nephropathic cystinosis were given a lifespan of approximately 10 years.1,2 As a result of improved medical care, including successful renal transplant and early initiation of cystine-depleting therapy (CDT), individuals with cystinosis are living longer, with some living into their 50s and beyond.2,4

Use the interactive Treatment Impact Visualizer tool below to understand how cystinosis may manifest in your undertreated or untreated patients and learn strategies to help promote treatment adherence.*

*Every undertreated or untreated patient may not experience all the manifestations listed here. Cystinosis progression and presentation may vary among patients. Some preexisting complications may change or become more severe as patients age. Even adequately treated patients may experience these manifestations. This tool includes common symptoms and may not be an exhaustive list of all possible manifestations.

1. Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol. 2008;23(6):863-878. 2. Cystinosis Research Network. Cystinosis Parent Handbook. Accessed April 2021. 3. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347(2):111-121. 4. Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy. Ann Intern Med. 2007;147(4):242-250. 5. Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN. Cystinosis: practical tools for diagnosis and treatment. Pediatr Nephrol. 2011;26(2):205-215. 6. Elenberg E, Norling LL, Kleinman RE, Ingelfinger JR. Feeding problems in cystinosis. Pediatr Nephrol. 1998;12(5):365-370. 7. Gahl WA, Reed GF, Thoene JG, et al. Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med. 1987;316(16):971-977. 8. 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. 9. Trauner D. Neurocognitive complications of cystinosis. J Pediatr. 2017;183S:S15-S18. 10. Bishop R. Ocular complications of infantile nephropathic cystinosis. J Pediatr. 2017;183S:S19-S21. 11. Kasimer RN, Langman CB. Adult complications of nephropathic cystinosis: a systematic review. Pediatr Nephrol. 2021;36(2):223-236. 12. Servais A, Saitovitch A, Hummel A, et al. Central nervous system complications in adult cystinosis patients. J Inherit Metab Dis. 2020;43(2):348-356. 13. 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. 14. Langman CB, Barshop BA, Deschênes G, et al. Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference. Kidney Int. 2016;89(6):1192-1203. 15. Sadjadi R, Sullivan S, Grant N, et al. Clinical myopathy in patients with nephropathic cystinosis. Muscle Nerve. 2020;61(1):74-80. 16. Levtchenko EN, van Dael CM, de Graaf-Hess AC, et al. Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. Pediatr Nephrol. 2006;21(1):110-113. 17. Ariceta G, Camacho JA, Fernández-Obispo M, et al. Cystinosis in adult and adolescent patients: recommendations for the comprehensive care of cystinosis. Nefrología. 2015;35(3):304-321. 18. Varnell CD Jr, Rich KL, Nichols M, et al. Assessing barriers to adherence in routine clinical care for pediatric kidney transplant patients. Pediatr Transplant. 2017;21(7):10.1111/petr.13027. 19. Cheung CY, Chan KM, Tang G, Cheung A, Chak WL. Immunosuppressive medication adherence in kidney transplant recipients during the COVID-19 pandemic: a cross-sectional study in Hong Kong. Transplant Proc. 2021;53(8):2447-2450. 20. Loghman-Adham M. Medication noncompliance in patients with chronic disease: issues in dialysis and renal transplantation. Am J Manag Care. 2003;9(2):155-171.