What is 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 =
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