For U.S. Healthcare Professionals

Understanding Cystinosis

Cystinosis is a rare disease in which the transport process to remove cystine from the lysosomal membrane is impaired, resulting in toxic levels of cystine accumulation in cells throughout the body that leads to multisystemic dysfunction.1

This site is a resource for you to learn more about cystinosis, get support for your patients, and locate cystinosis specialists.

Symptoms such as rickets, dysphagia, and Fanconi syndrome are signs your patient may be living with cystinosis.1-3 Cystinosis may lead to deteriorated kidney function among other serious, life-threatening disorders if left untreated.3

While cystinosis was once fatal at a young age, advancements in therapies have extended life expectancy well into adulthood.4

1. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347(2):111-121. 2. Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol. 2008;23(6):863-878. 3. 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. 4. National Organization for Rare Disorders (NORD). Cystinosis. Accessed March 28, 2019.