Renal transplantation for infantile and juvenile cystinosis: Two case report and review of the literature

Cystinosis is a rare autosomal recessive lysosomal storage disorder characterized by cysteine buildup in various tissues, including the kidneys. Renal involvement is the primary manifestation, leading to end-stage renal disease (ESRD), if left untreated. Kidney transplantation (KT) in patients with cystinosis has significantly improved their prognosis for the disease outcome. Detailed reports on pre- and post-term postoperative management in these patients remain sparse. This report discusses the outcomes of 2 young adult patients of Middle Eastern descent with cystinosis who underwent KT. The first patient, diagnosed with infantile nephropathic cystinosis treated by cystine depleting therapy, was operated by KT at the age of 18 years. The second patient, diagnosed with juvenile cystinosis, underwent transplantation at the age of 35 years after being treated by hemodialysis. Our report describes detailed pre- and post-operative managements, including laboratory results, and pharmacological interventions. Both cases highlighted the varying clinical manifestations and disease severity between infantile and juvenile cystinosis. Pre-transplant conditions included renal dysfunction, growth retardation, secondary hyperparathyroidism, anemia, and extrarenal manifestations. Following KT, both patients experiences regained renal function, resolution of extrarenal complications, and normalization of laboratory parameters. Furthermore, both patients showed excellent postoperative outcomes with no acute rejection or allograft-related complications. KT is the treatment of choice for cystinosis patients with ESRD. Long-term follow-up post-transplantation is crucial to maintain good graft function. Further studies may elucidate optimal pre- and postoperative management protocols for this rare condition.