What is cystinosis?

Whether your cystinosis journey has just begun or you've been living with the disease for some time, understanding what's going on in the body may help. 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. 

An intro to cystinosis

Learn the basics about the disease and how to manage it.

Read the full video transcript

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 healthcare 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 healthcare team and routine tests can help with the management of your cystinosis.

Understanding cystinosis

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The 3 types of cystinosis

Nephropathic cystinosis or classic infantile cystinosis is the most common form of the disease. It is also the most serious. About 95% of people with cystinosis have this type. Symptoms usually appear early in the first year of life, and it's a lifelong disease.

Learn about a nephropathic cystinosis medicine from Horizon Therapeutics that may be right for you

Intermediate cystinosis or juvenile cystinosis is a less serious form of the disease. It may not be diagnosed until a person is a teenager.

Ocular cystinosis or nonnephropathic cystinosis is the least serious form of the disease and only affects the eyes.


How people inherit 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.

When two carriers have a child, there is a 25% chance that the child will have cystinosis and a 50% chance of the child being a carrier.


How cystinosis affects the body

In people with cystinosis, cystine gets trapped in the cells. This causes cystine levels to rise. When cystine levels rise, crystals form that lead to harm to the body.

What cystinosis looks like in the cells

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.

Lysosome in a person without cystinosis

Lyosome Without Cystinosis Graphic

Lysosome in a person without cystinosis

Cystine is removed from the lysosome and used normally.

Lysosome in a person with cystinosis

Lyosome With Cystinosis Graphic

Lysosome in a person with cystinosis

Cystine can't be removed so it builds up and forms crystals. These crystals lead to damage in cells and organs all over the body.


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