Dedicated to a cure. Committed to our community.
Cystinosis is a devastating disease that affects children from birth. It is a cellular disorder that impairs every cell in the body. It leads to kidney failure, hypothyroidism, growth failure, requirement for feeding tubes, muscle weakness, severe sensitivity to light due to corneal crystal deposition, diabetes mellitus, and neurologic involvement.
Kidney failure typically occurs in the early teenage years. Patients with Cystinosis require dialysis and ultimately kidney transplantation to restore kidney function. Unfortunately, kidney transplanation does not prevent progression of the disease.
Cystagon, a medication with multiple side effects, is the only treatment at this time. Children and adults also require eye drops to dissolve the corneal crystals that are the cause of light sensitivity.
Because this is a rare metabolic disorder, it does not get the attention from health care providers or the pharmaceutical industry as other diseases do.
Please visit the Cystinosis Research Network website www.cystinosis.org and consider making a donation so that someday a cure will be available.
A review article can be found in the New England Journal of Medicine: Gahl WA, Thoene JG, Schneider JA. July 11, 2002.
1. President and Executive Director: Christy Greeley, [email protected]
2. Scientific Review Board Chair: WA Gahl, MD, PhD