Treatments to Help Manage Cystinosis


Ongoing treatment now makes it possible for people with cystinosis to live lives that are not only longer, but also better. Today, it’s possible to access medications, vitamins and supplements, procedures, the expertise of a wide range of medical experts, and the cystinosis community.

To live with cystinosis, consistent care is important—even when you look or feel fine. Cystinosis does not rest. And if you delay, miss, or stop taking medicine, cystine can accumulate very quickly, which is dangerous.1-5

Multiple medicines are often needed to manage the many symptoms of cystinosis. There are more than 20 medications and supplements commonly prescribed to people with cystinosis. Some medicines, such as cysteamine, work directly against the disease by depleting cystine from your body. Other medicines help address related concerns, such as mineral absorption and growth. As the disease progresses, more invasive treatments may become necessary.6

Which medicines your doctors prescribe and how many you need to take may change over time.2 Make sure you work closely with your doctor. Ask questions and share your concerns. And, of course, talk about any symptoms or side effects you have.

Cystine-depleting therapy

Cysteamine, a cystine-depleting medication, works to reduce the toxic accumulation of cystine in the cells. Keeping cystine accumulation under control is the only way to limit or prevent the damage too much cystine can cause to cells, tissues, and organs.1-5

Oral cysteamine for nephropathic cystinosis comes in two forms:

  • Immediate-release, which is administered every 6 hours
  • Delayed-release, which is administered every 12 hours

Cysteamine is also available in eyedrop form. Cysteamine eyedrops can dissolve cystine crystals in the eyes and help to prevent or delay eye-related or ocular complications.2 Talk to your doctor about including oral cysteamine in your treatment plan.

The damage caused by toxic accumulation of cystine cannot be reversed. That’s why it’s important to keep cystine levels under constant control.3 Learn how white blood cell cystine testing can help you and your doctor understand your disease better and help you manage cystine.

Supportive therapies
Cystinosis can lead to additional health complications, especially when cystine accumulation is not adequately controlled. This table summarizes various supportive therapies that may be needed to manage symptoms or address complications of cystinosis.



Impaired renal tubular reabsorption

Electrolyte replenishment (e.g., sodium bicarbonate or sodium-potassium citrate)2

Rickets prevention and treatment

Calcium and potassium supplements2,7


Gastrostomy tube2

Growth retardation

Recombinant growth hormone2



Male hypogonadism

Testosterone replacement2

Kidney failure (renal failure)

Dialysis, kidney transplant2



Hypertension/kidney damage

Angiotensin-converting enzyme inhibitors or angiotensin-receptor blockers6


5-HT3 receptor antagonists8

Gastric acid hypersecretion

Esomeprazole, omeprazole9

Idiopathic intracranial hypertension

Acetazolamide or ventriculoperitoneal shunt10,11

Kidney transplant

Antirejection medications2

The kidneys: Dialysis and transplant

Cystinosis can do severe, irreversible damage to the kidneys. This can lead to the kidneys failing, which is called renal failure. Temporary treatment for renal failure is dialysis, a special process that does the job of the kidneys by purifying the blood. As kidney function weakens, a kidney transplant may become necessary. A transplant can help restore kidney function. Medicines called immunosuppressants or antirejection therapies can help keep the body’s immune system from rejecting the donor kidney.2

Cysteamine (cystine-depleting therapy) may delay kidney failure and the need for dialysis or transplant.3

A kidney transplant is not a cure for cystinosis. After a transplant, it’s important to continue with prescribed medications, including cystine-depleting therapy. You will still need cystine-depleting medication after a kidney transplant.3

The kidneys may be the first to be affected, but cystinosis is not just a kidney problem. Even after a transplant, other parts of your body continue to be damaged when cystine accumulates. That’s why you still need to keep taking your cystine-depleting therapy. Staying with your medicine routine after transplant surgery may also help you care for your new kidney. Speak to your doctors about your post-transplant treatment regimen.3,4


  1. Brodin-Sartorius A, Tète M-J, Niaudet P, et al. Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int. 2012;81:179-189.
  2. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347(2):111-121
  3. Gahl WA, Balog JZ, Kleta R. Nephropathic cystinosis in adults: Natural history and effects of oral cysteamine therapy. Ann Intern Med. 2007;147:242-250.
  4. 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;21:110-113.
  5. Nesterova G, Gahl WA. Cystinosis: The evolution of a treatable disease. Pediatr Nephrol. 2013;28:51-59.
  6. Cystinosis Transitioning Guide, Cystinosis Research Network website. Available at Accessed August 20, 2015.
  7. Infantile Nephropathic Cystinosis Standards of Care, Cystinosis Research Network website. Available at Accessed August 20, 2015.
  8. Smith HS, Cox LR, Smith EJ. 5-HT3 receptor antagonists for the treatment of nausea/vomiting. Ann Palliat Med. 2012. Available at Accessed August 3, 2015.
  9. Dohil R, Newbury RO, Sellers ZM, et al. The evaluation and treatment of gastrointestinal disease in children with cystinosis receiving cysteamine. J Pediatr. 2003;143:224-30.
  10. Johns Hopkins Medicine. Pseudotumor cerebri: Q&A. Available at Accessed August 3, 2015.
  11. Wall, M. Idiopathic intracranial hypertension. Neurol Clin. 2010;28(3):593-617.