Cystinosis is a chronic congenital condition where cystine, an amino acid, builds up within your cells. While small amounts of cystine are okay, high amounts will start to crystalize inside your body, resulting in kidney stones and other issues. Cystinosis is a genetic condition, which means it is inherited from parents. While it is extremely rare, cystinosis is a serious condition that requires prompt medical treatment.
The reason cystinosis is so serious is because it can cause eventual kidney failure. When this happens, you will need to be hooked up to a machine that does the work of your kidneys, which is to filter waste and fluid from the blood. Once your kidneys fail completely, the only way to avoid needing dialysis, is to have a kidney transplant.
While there is no cure for cystinosis, treatment can keep the kidneys working for as long as possible. Eventually, however, even the best treatment can rarely prevent total kidney failure, and a transplant is usually required.
The first course of treatment for cystinosis is to get started on a prescription medication called cysteamine. Cysteamine is a medication that reduces the amount of cystine in the body. It does this by converting cystine into other materials that can be removed from the body or that do not cause it any harm.
While cysteamine is not a cure for cystinosis, it can significantly delay the time it takes until your kidneys fail. However, it can rarely prevent complete failure and is merely meant as a delay until you will need a kidney transplant and dialysis. Cysteamine is only meant to help the kidneys and does not help other parts of the body affected by cystinosis, such as the eyes.
The longer that cystine and calcium are allowed to sit in the body, the more likely they are to combine and form kidney stones. To keep this from happening, it is important to drink lots of fluids and electrolytes. These fluids will keep things flowing through your body and can help prevent complications that lead to kidney failure.
Another medication that you can benefit from taking is phosphate binders. These medications bind to phosphates that build up within the body and remove them. Excess phosphates can contribute to kidney problems and magnify the damage that happens with cystinosis. Vitamin D is also a good way to keep phosphate from building up and causing problems.
Eventually, no matter how much cysteamine you take or how effective it is, cystinosis will cause end-stage kidney failure. This happens because kidney damage cannot be reversed, especially in the case of genetic conditions leading to renal failure.
When your kidneys are no longer able to filter waste and fluid from the blood and body, you will need to start dialysis. Dialysis is where you get hooked up to a machine that does the work of your kidneys by filtering fluid and waste. However, dialysis is meant as a temporary treatment to keep you alive and not as a permanent fix.
Since dialysis is a temporary fix and not a permanent treatment, the goal is to remain on dialysis until you qualify for a kidney transplant, which is the only way to get rid of cystinosis. During a kidney transplant, the failed kidneys are removed and replaced with working ones from a matching donor. In many cases, transplants are from a friend or family member or from a stranger via a transplant list.
Unfortunately, there is no cure for cystinosis and no way to prevent it, as it is an inherited congenital condition. While cysteamine and other treatments can help delay the decline of your kidneys, cystinosis eventually leads to total kidney failure. When this happens, you will need to go on dialysis until you receive a kidney transplant.