William A. Gahl, MD, PhD; Joan Z. Balog, RN, MSN; Robert Kleta, MD, PhD
Gahl WA, Balog JZ, Kleta R. Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy. Ann Intern Med. 2007;147:242-250. doi: 10.7326/0003-4819-147-4-200708210-00006
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Published: Ann Intern Med. 2007;147(4):242-250.
Nephropathic cystinosis causes the renal Fanconi syndrome in childhood. With renal replacement therapy, affected children are living longer and exhibiting previously unseen manifestations of the disease.
This case series describes 100 adults age 18 to 45 years with cystinosis. Ninety-two persons received a renal allograft. Most persons had multiple complications, such as hypothyroidism, hypergonadotropic hypogonadism, pulmonary insufficiency, myopathy, retinopathy, and diabetes. One third died. A history of long-term cysteamine therapy seemed to be associated with a decreased risk for complications and death.
The study was retrospective. Data were from selected patients attending a national referral center.
Nephropathic cystinosis is a multisystemic disease that may be mitigated by cysteamine therapy.
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.
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.
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Nephrology, Renal Replacement Therapy.
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