Combined liver-kidney transplantation for primary hyperoxaluria type 1 in young children

Background. Primary hyperoxaluria type 1 (PH1) is a rare condition in which deficiency of the liver enzyme alanine:glyoxylate aminotransferase leads t o renal failure and systemic oxalosis. Combined liver-kidney transplantatio n (LKT) is recommended for end-stage renal failure (ESRF) in adults, but ma nagement of infants and young children is controversial. We retrospectively reviewed six children who underwent LKT for PHI. Methods. The median age at diagnosis was 1.8 years (range 3 weeks to 7 year s). Two children presented with severe infantile oxalosis at 3 and 9 weeks, five patients had ESRF with nephrocalcinosis and systemic oxalosis, (media n duration of dialysis 1.3 years), and one had progressive chronic renal fa ilure. Four children underwent combined LKT, one child staged liver then ki dney, and one infant had an isolated liver transplant. The median age at tr ansplantation was 8.9 years (range 1.7-15 years). Results. Overall patient survival was four out of six. The two infants with PHI and severe systemic oxalosis died (2 and 3 weeks post-transplant) due to cardiovascular oxalosis and sepsis. The other four children are well at median follow-up of 10 months (range 6 months: to 7.4 years). No child deve loped hepatic rejection and all have normal liver function. Renal rejection occurred in three patients. Despite maximal medical management, oxalate de posits recurred in all renal grafts, contributing to graft loss in one (one of the infants who died), and significant dysfunction requiring haemodialy sis post-transplant for 6 months. Conclusions. LKT is effective therapy for primary oxalosis with ESRF but ha s a high morbidity and mortality rate in children who present in infancy wi th nephrocalcinosis and systemic oxalosis. We feel that earlier LKT, or pre -emptive liver transplantation, may be a better therapeutic strategy to imp rove the outlook for these patients.