Renal transplantation for infantile cystinosis: Long-term follow-up

Renal transplantation for infantile cystinosis corrects renal failure and prolongs survival. However, after transplantation, the disease may develop in the allograft and continue to progress in nonrenal organs. We studied seven children (6 boys, 1 girl) with infantile cystinosis who received 11 renal transplant (3 cadaver, 8 living-related) between May 1969 and December 1986. The age at transplant ranged from 6 to 12 years (mean, 9.1 years). Four children received second renal transplants at a mean age of 17 years (range, 16 to 22 years). The mean period of follow-up was 138±47 months. Three children received cysteamine therapy prior to transplantation. Nonrenal complications of infantile cystinosis present before transplantation were photophobia (n=3), corneal crystals (n=5), hypothyroidism (n=1), rickets (n=6), and short stature (n=7). Graft and patient survival did not differ from controls matched for the time of transplantation. Two patients died (1 pneumococcal sepsis, 1 respiratory failure due to pulmonary fibrosis) with functioning grafts 5 and 14 years posttransplant. Complications that developed posttransplant included photophobia (n=1), corneal crystals (n=2), hypothyroidism (n=4), polyneuropathy (n=1), pulmonary fibrosis (n=1), abnormal electroencephalogram without clinical seizures (n=1), bladder stones (n=1), and diabetes mellitus (n=2). One patient received a corneal transplant. All seven children failed to show improvement in growth following transplantation. Cystine crystals are present in graft-infiltrating cells, but do not seem to affect kidney allograft function. Successful renal transplantation prolongs patient survival and by so doing, allows for continued cystine accumulation in nonrenal organs. Organ systems affected by this include the nervous, respiratory, and endocrine systems.