Cystinosis is a rare, genetic, metabolic, lysosomal storage disease that causes an abnormal accumulation of the amino acid cystine in various organs and tissues of the body such as the kidneys, eyes, muscles, pancreas and brain.
The cystine accumulation causes widespread tissue and organ damage. Cystine accumulation can lead to kidney failure, muscle wasting, swallowing difficulty, diabetes, hypothyroidism, cerebral atrophy, photophobia, blindness, corneal ulceration, ventilatory impairment, and more. Without treatment, children with cystinosis will usually develop end stage kidney failure and die prematurely.Learn More About Us
Send a complimentary care package to a friend or family member with cystinosis, your child, or yourself through a new initiative called “Brighter Days”.Learn More
The CRN provides the latest updates on research and treatment advancements, funds research grants and provides best clinical practices resources.See Support & Resources
You’ve received a diagnosis. Now what?Learn More
Daily life with cystinosis can present challenges. There are resources to help you along the way.Learn More
Teams of medical experts are researching every aspect of cystinosis with the purpose of understanding our disease, finding improved treatments and a cure.Learn More