بررسی پیوند کلیه در کودکان مبتلا به سیستینوزیس

Background: Cystinosis is an inherited metabolic disease in which transfer of cystine out of lysosome is impaired. This phenomenon leads to accumulation of cystine in different organs and causes organ dysfunction. Growth retardation is seen in these patients and later they go on to develop renal failure needing dialysis or renal transplantation. The aim of this study was to evaluate the outcome and complications of renal transplantation in patients with cystinosis. Materials and methods: In this case series study in years 1996-2006 all patients with renal failure due to cystinosis who received renal transplantation, were followed for 43± 1/1 months. Before operation, all patients were examined to determine if they are appropriate candidate for renal transplantation and after operation DPTA scan was performed to evaluate graft function and in later follow up necessary lab tests were done. All patients received triple immunosuppressive therapy including cyclosporine, prednisolone and Mycophenolate Mofetil. In the presence of rejection symptoms such as fever and a rise in creatinine, graft rejection was confirmed by DPTA scan and sonography of transplanted kidney. Results: Patient survival was 100% and 4 years graft survival was 86.7%. Mean creatinine level before operation was 5.44 ± 2.58 and post operation was 0.86 ± 1.03 and at the last follow-up was 1.51 ± 1.45 mg/dl, mean GFR at the last follow-up was 54.1 ± 31.2 ml/min/1.73m2. Six (40%) patients were on dialysis before operation, 5 (33%) had acute rejection and 5 (33%) suffered from UTI after the operation. Growth retardation was seen in all of patients. Thirteen patients (86%) were affected by CMV infection and 6 (40%) by CMV disease that were treated successfully by Ganciclovir for 2 weeks. One patient was affected by vessel thrombosis in post operation period and one patient had graft loss due to kink of vessel after operation. Conclusion: Renal transplantation in patients with cystinosis has favorable outcome. It is the treatment of choice for patients with cystinosis and End Stage Renal Failure (ESRF).