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Renal transplantation for infantile cystinosis: long-term follow-up
P S Almond1, A J Matas, R E Nakhleh
1Department of Surgery, University of Minnesota, Minneapolis.
Insights
Renal transplantation improves survival for children with infantile cystinosis but does not halt disease progression in other organs or improve growth. Graft function remains unaffected by cystine crystals post-transplant.
Area of Science:
- Pediatric Nephrology
- Transplantation Immunology
- Genetic Metabolic Disorders
Background:
- Infantile cystinosis causes renal failure and systemic complications.
- Renal transplantation is a life-saving intervention for end-stage renal disease in cystinosis.
- Long-term outcomes and non-renal progression post-transplant require further investigation.
Observation:
- Seven children with infantile cystinosis underwent 11 renal transplants between 1969-1986.
- Pre-transplant complications included photophobia, corneal crystals, hypothyroidism, rickets, and short stature.
- Post-transplant, new or persistent non-renal complications and graft function were monitored.
Findings:
- Graft and patient survival rates were comparable to matched controls.
- Two patients died from sepsis and pulmonary fibrosis despite functioning grafts.
- Non-renal complications persisted or developed post-transplant; growth did not improve.
Implications:
- Renal transplantation prolongs survival in infantile cystinosis but does not cure the systemic disease.
- Continued monitoring for non-renal complications is crucial post-transplant.
- Cystine crystal deposition in grafts does not appear to impair allograft function.
Abstract:
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 transplants (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.(ABSTRACT TRUNCATED AT 250 WORDS)