Abstract
An 18-year-old male patient with a history of cystinosis and inflammatory bowel disease, who was being treated with cysteamine and 6-mercaptopurine, had an incidental finding of a mass in the right kidney on a renal ultrasound to evaluate worsening renal insufficiency. Excisional biopsy demonstrated papillary renal cell carcinoma, Type 2. Renal cell carcinoma is typically a disease of older adults, and it is not known to be associated with cystinosis. This is the first published report of renal cell carcinoma in a patient with cystinosis.
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Cameron, C., Greenbaum, L., Sato, T. et al. Renal cell carcinoma in a patient with cystinosis and inflammatory bowel disease: a case report. Pediatr Nephrol 23, 1167–1170 (2008). https://doi.org/10.1007/s00467-008-0773-6
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DOI: https://doi.org/10.1007/s00467-008-0773-6