An ultra-rare genetic metabolic disease that affects every cell in the body. It affects every organ system in the body including the kidneys, eyes, liver, brain, thyroid, and many more.
It is a lysosomal storage disease
It is in the DNA and it is inherited. It’s caused by a mutation in the CTNS gene.
It’s a persistent, progressive disease that continues to cause damage even after kidney transplant.
Estimated number of affected:
500 people in the U.S.
2,000 people worldwide
A Typical Cystinosis Healthcare Team
Pediatrician/Internist = general medical care
Nephrologist = kidney issues both in childhood and adulthood
Ophthalmologist = for corneal and retinal complications
Endocrinologist = growth hormone therapy, thyroid insufficiency, hypogonadism, and management of diabetes.
