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N Engl J Med Dec 9;341(24):1807. Images in clinical medicine. Cystine crystals in Fanconi's syndrome. Singh JK, Kusior MF. Samuel S. Stratton Veterans Affairs Medical Center, Albany, NY 12208, USA. PMID: [PubMed - indexed for MEDLINE] Singh JKKusior MF Cystine Crystals in Fanconi's Syndrome Singh, Jaswant K.; Kusior, Mary F. Author Information Samuel S. Stratton Veterans Affairs Medical Center; Albany, NY Back to Top Cystine Crystals in Fanconi's Syndrome (Figure 1) A 37-year-old man died of massive gastrointestinal bleeding from esophageal varices caused by biopsy-proved cirrhosis due to hepatitis C virus. He had been given a diagnosis of Fanconi's syndrome at the age of one year, when he presented with failure to thrive. The infantile form of cystinosis was diagnosed at the age of 13 years when a slit-lamp examination of the corneas, performed because of visual impairment, demonstrated cystine crystals. He was treated with sodium bicarbonate and vitamin D supplementation, but rickets developed. Despite receiving four renal transplants, the first at the age of 14 years, he had progressive loss of visual acuity and photophobia. Two transplants were lost as a result of chronic rejection, and one because of hyperacute rejection. He had received the fourth transplant at the age of 27 years, and it was functioning well at the time of his death. No other late manifestations of cystinosis were found at autopsy. The autopsy revealed abundant cystine crystals within macrophages in the native kidney (Panel A, polarizing microscopy; and Panel B, scanning electron microscopy) as well as in the liver, thyroid, and skeletal muscle. Histologic examination of all transplanted-kidney specimens showed minimal deposition of cystine crystals in interstitial histiocytes. Figure 1 Jaswant K. Singh, M.D. Mary F. Kusior, M.D. Samuel S. Stratton Veterans Affairs Medical Center; Albany, NY Back to TopFigure 1

Owned, published, and © copyrighted, 1999, by the MASSACHUSETTS MEDICAL SOCIETY. Published by Massachusetts Medical Society. 2 Cystine Crystals in Fanconi's Syndrome. Singh, Jaswant; Kusior, Mary New England Journal of Medicine. 341(24):1807, December 9, Figure 1. No caption available.