If cystinosis patients receive a kidney transplant and reach adulthood, their new kidney will not be affected by the disease. These complications can include muscle wasting, difficulty swallowing, diabetes, hypothyroidism, and blindness. Not all older patients develop these problems, however. The symptomatic treatment of the Fanconi syndrome is essential. The urinary losses of water, salts, bicarbonate, and minerals must be replaced.
Most children receive a solution of sodium and potassium citrate, as well as phosphate.
The aim of specific treatment for cystinosis is to reduce cystine accumulation within the cells. This goal is achieved by cysteamine treatment, which has proven effective in delaying or preventing renal failure. Cysteamine also improves growth of cystinosis children. For both young children with cystinosis and older patients with a kidney transplant, cysteamine eyedrops may be available to remove the corneal cystine crystals. Today, prenatal diagnosis is available for families known to be at risk for having a child with cystinosis.