Dive into a Cystinosis 101 with one of the top cystinosis experts in the world; Dr Bill Gahl. Join this 30-minute discussion covering natural history, oral/topical cysteamine, genetics, newborn screening and more.
Cystinosis is a genetic disorder due to failure to remove the amino acid cystine from a compartment within cells called the lysosome. The consequent accumulation of cystine causes crystals to form and damages different organs of the body at different rates. For example, the kidney fails to reabsorb water and small molecules in the first year of life; crystals form in the cornea by about a year of age; muscle and other organ involvement occurs in the second to fourth decades. Without treatment, kidney failure occurs around age 10 years and requires dialysis or transplantation. Symptomatic treatment includes replacement of kidney losses of small molecules, thyroid replacement, and sometimes growth hormone and other therapies. Directed treatment to remove cystine from lysosomes and cells involves oral cysteamine; for the corneal crystals, topical cysteamine eye drops are effective. Early diagnosis is critical.