Know your cystinosis treatments
The right treatment choices may help people with cystinosis manage their condition today and prevent issues tomorrow. There are medicines that may help delay or limit cystinosis damage called cystine-depleting therapies (CDTs) and treatments that may help with other symptoms and effects related to cystinosis. Talk with your healthcare team to create cystinosis treatment plans that may work.
What is cystine-depleting therapy?
CDTs are medicines that work to lower the levels of cystine in the cells. Keeping cystine levels low is the main way to help limit or possibly delay damage to the body.
There are a number of FDA-approved CDTs. They work to remove cystine from the body or the eyes.
Cystinosis treatment schedule–same time every day
Careful daily management of cystinosis is key. Cystine is always being made in the cells, even when people with cystinosis look or feel fine. Taking medicines as prescribed may help keep cystine levels low throughout the day.
If a person delays, misses, or stops taking their CDT medicine, cystine levels may rise very quickly—in as little as three hours. This may cause damage to the body. One medical study showed that patients who took their doses on time had lower average cystine levels compared with patients who delayed dosing.
Tips for getting the most out of cystinosis treatment
- CDT medicine should be taken at the same time each day
- Set a regular alarm on a phone or personal device as a medicine reminder
- Write down when medicine is taken on a calendar or in a planner to track doses
- Speak with a doctor or pharmacist when a dose is missed or refer to the medicine’s packaging
Treating cystinosis symptoms and effects
Cystinosis may lead to many health issues. This is especially true when cystine levels are not kept low. See the table below for common issues and their possible treatments. Please speak with a doctor about any concerns you have and work together to find the best treatment for you.
Note: Items with an * may be available over-the-counter at a drugstore. Items with a † require a prescription from a doctor.
|Limited ability to sweat; frequent peeing (urination) and thirst||
Easy access to water and toilets. Should avoid spending too much time in the sun to help keep hydrated
|Rickets (softening or weakening of bones)||
Supplements to replace phosphate and vitamin D* (for example, calcitriol, calcidiol, alphacalcidiol, 1-alpha-hydroxycholecalciferol)
|Loss of salt||
Replacement with sodium potassium citrate* or sodium bicarbonate*
|Loss of potassium||
Replacement with potassium citrate* or potassium phosphate*
|Loss of phosphate||
Replacement with sodium phosphate or potassium phosphate*
|Loss of alkali||
Replacement with citrate or bicarbonate as sodium and potassium salts (polycitra, bicitra)†
|Loss of copper||
Copper supplementation with chlorophyllin tablets*
|Loss of carnitine||
Replacement with L-carnitine*
|Too much protein in urine||
ACE inhibitors (enalapril).† Should not be used while taking indomethacin
|Excessive loss of electrolytes and urination||
Indomethacin.† Should not be used while taking an ACE inhibitor
|Kidney failure and replacement|
|Low thyroid hormone levels||
Growth hormone (rhGH)†, adequate phosphate replacement*, and good nutrition
|Low testosterone levels||
Oral medicines, insulin†, and/or injected medicines
|Stomach acid and indigestion||
Proton pump inhibitors* (for example, omeprazole)
*May be available over the counter.
Kidney dialysis and transplant
Cystinosis harms the kidneys, making it difficult for the body to absorb substances it needs and causing large losses of fluid through peeing (urination). Eventually, the kidneys may be unable to remove waste from the blood, leading to kidney failure. As the kidneys fail, dialysis or a kidney transplant is needed. Dialysis is a temporary treatment that does the job of the kidneys by removing waste from the blood.
Cystine-depleting therapy (CDT) may delay harm to the kidneys and possibly delay the need for a kidney transplant. After a kidney transplant, it is important to keep taking CDT to protect the rest of the body from cystinosis damage. After the transplant, medicines are used to help keep the body’s immune system from rejecting the transplanted kidney.
Talk to your doctor about making a treatment plan for after the kidney transplant, including daily CDT and medicines for protecting the transplanted kidney.
Whether you are getting ready for your first kidney transplant or you have been through one before, use this guide to feel better prepared and informed.
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