ADULTS UNDERSTANDING CYSTINOSIS

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 your body may help. Cystinosis is a rare genetic disease. It's caused by a buildup of cystineCystine: The amino acid that builds up inside of cells when a person has cystinosis in the body. This buildup causes crystals to form and harm the body.

Understanding cystinosis

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, cystineCystine: The amino acid that builds up inside of cells when a person has cystinosis gets trapped in the cells. This causes cystine levels to rise. When cystine levels rise, crystals form; these crystals eventually 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”Lysosome: The part of a cell that acts as a “recycling centre” by breaking down proteins into amino acids doesn’t work right.

Cystinosis signs and symptoms

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

Kidney damage is often the first sign of cystinosis but, over time, cystinosis may affect many parts of the body.

Click on the tabs below to see common cystinosis signs and symptoms

(Note: Signs and symptoms may vary from patient to patient)

Muscle damage

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.

Watch: Myopathy (muscle damage) in the hands

Watch: Myopathy (muscle damage) in the throat

Talk to your doctor

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.