Track your cystine levels
One of the most important things you can do is check and keep track of your cystine levels.
Today there are medicines that can help you manage your cystinosis and may help delay or limit damage to your body. They are called cystine-depleting therapies (CDTs). There are also other options available to help you with other symptoms and issues related to cystinosis.
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 your body.
There are 3 FDA-approved CDT treatments. Two remove cystine from the body. One removes cystine from the eyes.
Careful management of cystinosis every day is key. Cystine is always being made in your cells even when you look or feel fine. Taking your medicines as prescribed can help keep cystine levels low throughout the day. If you happen to delay, miss, or stop taking your medicine, cystine levels can rise very quickly—in as little as 3 hours. And this can cause damage. One medical study showed that patients who took their doses on time had lower average cystine levels compared with patients who delayed dosing.
Cystinosis can lead to many health issues. This is especially true when cystine levels are not kept low. See the table below for common concerns and their treatments. Please speak with your doctor about any concerns you have, and work with your doctor to find the best treatment.
Note: Items with an * may be available over-the-counter at a drugstore. Items with a † need a prescription from your doctor.
|Issues resulting from Fanconi syndrome|
|Limited ability to sweat; frequent peeing (urination) and thirst||Free access to water and toilets. 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 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 use while taking indomethacin|
|Excessive loss of electrolytes and urination||Indomethacin.† Should not use while taking an ACE inhibitor|
|Kidney failure and replacement|
|Kidney failure||Dialysis and kidney transplant|
|Kidney replacement||Antirejection medications†|
|Low thyroid hormone levels||Levothyroxin†|
|Slow growth||Growth hormone (rhGH), adequate phosphate replacement, and good nutrition†|
|Low testosterone levels||Testosterone supplementation†|
|Stomach acid and indigestion||Proton pump inhibitors* (for example, omeprazole)|
*May be available over the counter.
Cystinosis causes harm to the kidneys that makes it difficult for the body to absorb important substances it needs and also causes large losses of fluid through peeing (urination). Over time, this harm results in the kidneys being 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) can delay harm to your kidneys and the age you have a kidney transplant. Even after a kidney transplant, it is important to continue taking your CDT to protect the rest of your body from damage caused by cystine buildup. 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 a kidney transplant, including daily CDT and medicines for protecting your transplanted kidney.