Related Experiment Videos
Pediatric kidney transplantation for cystinosis
Insights
Kidney transplants can extend life for children with cystinosis, a rare genetic disorder. Long-term graft survival is possible, but cystine accumulation may occur in other organs like the thyroid.
Area of Science:
- Nephrology
- Genetics
- Transplantation immunology
Background:
- Congenital cystinosis is a rare genetic disorder.
- Kidney transplantation is a life-saving treatment for end-stage renal disease caused by cystinosis.
Observation:
- A 10-year-old child with nephropathic cystinosis received a cadaver kidney transplant.
- The graft functioned for 7.5 years before rejection and remained free of recurrent cystinosis.
Findings:
- The patient survived to 18 years old, one of the longest known survivors of infantile nephropathic cystinosis.
- Significant cystine accumulation was observed in the patient's thyroid gland, forming a neck mass.
- Retransplantation was performed, acknowledging the risk of increased cystine levels.
Implications:
- Kidney transplantation can significantly prolong survival in patients with cystinosis.
- Long-term survival may lead to cystine accumulation in other host tissues, necessitating monitoring.
- Further research is needed to understand and manage cystine deposition in various organs.
Abstract:
In an experience of more than 700 kidney transplants, three recipients are known to have had congenital cystinosis. A cadaver kidney transplant in a 10 yr old child with nephropathic cystinosis functioned well for 7 1/2 yr before it was rejected and the graft was free of recurrent cystinosis after that interval. This prolongation of life was associated with marked accumulation of cystine in the patient's thyroid gland, presenting as a mass in the neck. If additional longevity is achieved in this patient, abnormal intracellular cystine accumulation may be expected in other host tissues. Retransplantation was carried out with the father as donor, accepting the possibility of increased cystine levels in the retransplant. This patient's age of 18 yr identifies him as one of the longest known survivors of infantile nephropathic cystinosis.