Primary hyperoxaluria type 1: Improved outcome with timely liver transplantation: A single-center report of 36 children

Background. The appropriate use of liver transplantation in children with t ype-l primary hyperoxaluria (PH-1) is not well established. We reviewed our experience with 36 children with PH-1, including 12 who underwent liver tr ansplantation. Patients and Methods. From 1989-1998, 36 children from 10 families in north ern Israel were diagnosed with PH-1. Eight children presented with renal fa ilure; seven of these eight had the severe infantile form of the disease. O ne child was treated with kidney transplantation alone. Combined liver-kidn ey transplantation has been performed in nine children and preemptive liver transplantation in three children. A review of the patients' charts for th e following parameters was performed: age, clinical signs, and renal sonogr aphic findings at diagnosis, age at onset of dialysis, and current status. Type of transplant, pre- and posttransplant urine oxalate excretion, curren t renal function, survival, and complications were recorded in liver recipi ents. Results. Of the 23 nontransplanted children, 9 died of complications relate d to severe systemic oxalosis and 14 are alive (mean follow-up, 7.4 years), including 2 who are candidates for transplantation. The child who underwen t only kidney transplantation died of unrelated causes. Of the 12 liver rec ipients, 2 died within the first 3 months posttransplant and another child underwent retransplantation due to hepatic arterial thrombosis. At interval s after transplant ranging from 6-54 months, 10 recipients are alive (7 of the 9 recipients of combined liver-kidney transplants and all 3 recipients of preemptive liver transplants). Mean GFR in the 10 survivors is 77 ml/min /m(2). In 9 of these 10, daily urinary oxalate excretion normalized. Renal function has improved (mean GFR 86 vs. 58 ml/min/m(2)) but renal oxalate de posits remain in the three recipients of isolated liver grafts. Conclusions. Our decade-long experience with children with PH-1 supports st rategies for early diagnosis and timely liver transplantation. Preemptive i solated liver transplantation should be considered in children who develop the disease during infancy or in those with slowly progressive disease when significant symptoms develop. Combined liver-kidney transplantation is sug gested for children with end-stage renal disease.