Cystinosis
- 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.
- Gastroenterologist = GI symptoms
- Pulmonologist = lung function issues
- Neurologist = neuromuscular problems (muscle wasting)
- Psychologist/Psychotherapist/Social Worker = mental/emotional health and to navigate the medical system
- Geneticist =
Next Generation of Cystinosis 