Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy
- William A. Gahl, MD, PhD;
- Joan Z. Balog, RN, MSN; and
- Robert Kleta, MD, PhD
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From the National Human Genome Research Institute and Intramural Office of Rare Diseases, National Institutes of Health, Bethesda,
Maryland.
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Figure 1. Short stature and generalized muscle wasting are evident in a 39-year-old man with cystinosis. Marked atrophy of
the interosseous muscles of the hands is seen in the same patient. Electron microscopy of a postmortem specimen revealed shard-like
crystals in the cornea of a 22-year-old patient. Clinical findings in adults with nephropathic cystinosis not treated with oral cysteamine. A.B.C.
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Figure 2. 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. Frequency of cystinosis complications, by duration of oral cysteamine therapy.
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Ann Intern Med
August 21, 2007
vol. 147
no. 4
242-250
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View larger version:Figure 1. Short stature and generalized muscle wasting are evident in a 39-year-old man with cystinosis. Marked atrophy of the interosseous muscles of the hands is seen in the same patient. Electron microscopy of a postmortem specimen revealed shard-like crystals in the cornea of a 22-year-old patient. Clinical findings in adults with nephropathic cystinosis not treated with oral cysteamine. A.B.C.
View larger version:Figure 2. 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. Frequency of cystinosis complications, by duration of oral cysteamine therapy.
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