Surgical Management of Pediatric Primary Hyperoxaluria Type 1: An Eight-Patient Case Series in the Pre-siRNA Era.

backgroundPrimary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder that leads to systemic oxalosis and end-stage renal disease (ESRD). Before the advent of siRNA therapy, liver transplantation, often combined with kidney transplantation, was the only definitive treatment.

methodsWe conducted a retrospective review of eight pediatric patients with PH1 who underwent liver transplantation at a single tertiary care institution between 1998 and 2018. Clinical records were reviewed to extract data on transplant strategy, timing and modality of dialysis, surgical technique, and long-term outcomes. Histopathological and imaging data were used to assess systemic oxalate deposition.

resultsFive patients underwent sequential liver-kidney transplantation (seqLKT), one received preemptive liver transplantation, and two received kidney transplantation prior to PH1 diagnosis. To reduce systemic oxalate burden, seqLKT patients received intensive dialysis bridging. Following an early case of hepatic artery thrombosis, arterial conduit reconstruction to the aorta was employed in subsequent cases to optimize hepatic inflow. Oxalate deposition in arterial walls, retina, or bone was documented in three patients. At a median follow-up of 7.5 years, seven of eight patients were alive with stable hepatic and renal graft function.

conclusionsThis case series illustrates the surgical complexity and multidisciplinary coordination required in pediatric PH1 management and supports the role of seqLKT with conduit-based hepatic artery reconstruction and intensive dialysis bridging as effective approaches in selected patients, particularly in settings without access to gene-targeted therapy.