Cystinosis is a lysosomal storage disorder that results in the amino acid cystine accumulating inside the lysosomes of nearly every cell.1 Cystine accumulation causes the formation of crystals that lead to cell damage and death in tissues and organs throughout the body.1,2
Normal Lysosome 
Lysosome of a Person With Cystinosis Cystinosis is a rare, inherited metabolic disorder that affects about 500 to 600 people in the United States with about 20 new cases per year.3 One-half to two-thirds of cases may be undiagnosed.2
There are 3 forms of cystinosis2,4:
Nephropathic (or infantile) cystinosis 
Intermediate (or juvenile) cystinosis 
Nonnephropathic (or ocular) cystinosis Nephropathic cystinosis is the most prevalent and severe form of cystinosis, with symptoms presenting in the first year of life.2,4
Life Expectancy for a Cystinosis Patient
Nephropathic cystinosis is a chronic disorder with symptoms affecting multiple body systems. It was once a fatal disease in which patients died at a young age. Advancements in medicine, such as the development of cysteamine and improvements in kidney transplantation, have allowed life expectancy of cystinosis patients to increase into adulthood.5
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. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347(2):111-121. 3. Cystinosis Research Network. Infantile nephropathic cystinosis: standards of care. Accessed April 2021. https://cystinosis.org/wp-content/uploads/2019/01/CRN_StandardsOfCare_FINAL-2.pdf 4. Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN. Cystinosis: practical tools for diagnosis and treatment. Pediatr Nephrol. 2011;26(2):205-215. 5. National Organization for Rare Disorders (NORD). Cystinosis. Accessed March 28, 2019. https://rarediseases.org/rare-diseases/cystinosis/
