Nephropathic cystinosis, an autosomal recessive storage disease, is the most common cause of the renal Fanconi syndrome in
childhood. Persons with the disease are now living longer because of renal replacement therapy. Gahl and coworkers assessed
the severity of cystinosis in 100 adults age 18 to 45 years. Ninety-two persons received a renal allograft. Most persons had
complications of the disease, such as hypothyroidism, hypergonadotropic hypogonadism, pulmonary insufficiency, myopathy, retinopathy,
and diabetes. One third of the persons died. A history of long-term cysteamine therapy seemed to be associated with decreased
risk for complications and death.