Cystinosis is a rare genetic disease. It’s caused by a buildup of cystine in the body. This buildup causes crystals to form and harm the body.
Learn the basics about the disease and how to manage it.
Cystinosis is a rare disease that affects about 500 to 600 children and adults in the United States. Cystinosis is a genetic disorder, which means a person is born with it. It occurs when both parents pass down a specific gene that doesn’t work right. In people with cystinosis, an amino acid called cystine gets trapped inside the cells, builds up, and forms crystals. People with cystinosis cannot feel the rise in cystine levels. But over time, the buildup of crystals causes damage to every cell and organ in the body. Signs of damage usually start in the kidneys and eyes. Damage cannot be undone, but it can be slowed down. Keeping cystine levels low is the main way to slow this damage. Current treatments for cystinosis are called cystine-depleting therapies, or CDTs. CDTs help keep cystine levels low by removing cystine. If a dose is delayed or missed, cystine levels can rise very quickly, which may lead to damage in the future. So it’s important to take the dose your doctor recommends on time, every time. Work with your health care team and your doctor to schedule routine cystine level tests. Cystine level tests measure the amount of cystine in your cells. They also help your doctor make sure you’re getting the right amount of cystine-depleting therapy. Careful planning with your health care team and routine tests can help with the management of your cystinosis.
The 3 types of cystinosis
Cystinosis isn’t something you can catch from another person. It’s a genetic condition, which means a child is born with it. A child gets cystinosis if both parents are carriers of the disease and the gene that doesn’t work right gets passed down from both parents.
In people with cystinosis, cystine gets trapped in the cells. This causes cystine levels to rise. When cystine levels rise, crystals form that harm the body.
Human cells are like little factories in the body. They do a lot of work to help keep the body healthy. But in people with cystinosis, a part of cells called the “lysosome” doesn’t work right.
Cystinosis damage may appear at different times in different people. The amount of damage cystinosis does to the body and the rate at which it occurs may depend on how well a person manages the disease. Genetic and environmental factors may also play a role.
Kidney damage is often the first sign of cystinosis but, over time, cystinosis may affect many parts of the body.
Myopathy, or muscle damage, can occur when cystine crystals build up within the cells in the body. Keeping cystine levels low is the main way to help limit or possibly delay the effects of myopathy on the muscles. Cystine-depleting therapies, or CDTs, form the backbone of treatment for cystinosis. These treatments help keep cystine levels low by removing as much as 95% of the cystine in cells, for a positive effect on myopathy and cystinosis.
In people with cystinosis, myopathy tends to affect the hands first, typically in the muscles that control the fingers and worsen over time, leading to difficulty:
It is important to note that muscle damage can occur within the cells even before a person with cystinosis or their doctor notices a change in muscle strength or function.
Watch this video to learn how CDTs can play a key role in limiting or possibly delaying muscle damage to the hands caused by cystinosis.
Cystinosis is a rare genetic condition that leads to trouble with the cells’ recycling centers, called lysosomes. Cystinosin, a transporter that usually allows cystine to exit the cell, is not working properly. This causes cystine to build up, eventually forming crystals.
Cystine buildup can cause damage to muscle cells in the body. Muscle damage is also called myopathy.
Muscle damage usually begins in the hands, starting with the small muscles that help control the fingers, and may progress over time. It can make the fingers harder to control and motions like grabbing, gripping, straightening the fingers, and bending the wrists more difficult.
Muscle damage in cystinosis can also lead to difficulty swallowing, called dysphagia. Swallowing is a complex process that moves food through the mouth and throat while protecting the airway. If the throat muscles are damaged, swallowing may be slower and less coordinated. Food may also get caught in the airway, which can block the airway, or cause food or liquid to enter the lungs. When food starts to enter the airway, there is usually a reflex to cough, but this is not always the case, especially in people with severe dysphagia.
Cystine-depleting therapy breaks down cystine so it can be transported out of lysosomes through different channels. This decreases the amount of cystine in cells by as much as 95%. This may have a positive impact on myopathy in cystinosis.
If allowed to progress, cystine crystal buildup can affect the muscles in the throat used for speaking, swallowing, and breathing. A person with myopathy may experience:
CDT is the backbone for treating cystinosis and reducing the amount of cystine in cells. Watch this video to learn how cystine depleting therapies (CDTs) can be effective in helping to limit or possibly delay damage to the body.
Watch this video to learn how cystine depleting therapies (CDTs) can be effective in helping to limit or possibly delay damage to the body.
Cystinosis is a rare genetic condition that leads to trouble with the cells’ recycling centers, called lysosomes. Cystinosin, a transporter that usually allows cystine to exit the cell, is not working properly. This causes cystine to build up, eventually forming crystals.
Cystine buildup can cause damage to muscle cells in the body. Muscle damage is also called myopathy.
Muscle damage usually begins in the hands, starting with the small muscles that help control the fingers, and may progress over time. It can make the fingers harder to control and motions like grabbing, gripping, straightening the fingers, and bending the wrists more difficult.
Muscle damage in cystinosis can also lead to difficulty swallowing, called dysphagia. Swallowing is a complex process that moves food through the mouth and throat while protecting the airway. If the throat muscles are damaged, swallowing may be slower and less coordinated. Food may also get caught in the airway, which can block the airway, or cause food or liquid to enter the lungs. When food starts to enter the airway, there is usually a reflex to cough, but this is not always the case, especially in people with severe dysphagia.
Cystine-depleting therapy breaks down cystine so it can be transported out of lysosomes through different channels. This decreases the amount of cystine in cells by as much as 95%. This may have a positive impact on myopathy in cystinosis.
If allowed to progress, cystine crystal buildup can affect the muscles in the throat used for speaking, swallowing, and breathing. A person with myopathy may experience:
CDT is the backbone for treating cystinosis and reducing the amount of cystine in cells.
Watch this video to learn how cystine depleting therapies (CDTs) can be effective in helping to limit or possibly delay damage to the body.
Keeping cystine levels low is the primary way to slow the effects of cystinosis. That’s why it’s important to speak with your health care team and your doctor about CDTs and cystine level testing to help manage your cystinosis.
Eventually, cystinosis may cause damage that leads to kidney failure (also called renal failure), dialysis, and kidney transplant. Taking cystine-depleting therapy (CDT) regularly has been shown to delay harm to the kidneys.