Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy

View larger version (56K): [in this window] [in a new window]   Figure 1. Clinical findings in adults with nephropathic cystinosis not treated with oral cysteamine. A. Short stature and generalized muscle wasting are evident in a 39-year-old man with cystinosis. B. Marked atrophy of the interosseous muscles of the hands is seen in the same patient. C. Electron microscopy of a postmortem specimen revealed shard-like crystals in the cornea of a 22-year-old patient.

View larger version (22K): [in this window] [in a new window]   Figure 2. Frequency of cystinosis complications, by duration of oral cysteamine therapy. One hundred adults with cystinosis received cysteamine for a certain period of time and then did not receive cysteamine for a defined period of time, and each patient had or did not have a specific complication at the time of admission. Duration of cysteamine therapy was grouped in 10-year increments. The frequencies of diabetes, myopathy, pulmonary dysfunction, and death increased with time off cysteamine therapy and decreased with time on cysteamine therapy.