38. Simultaneous Living Donor Liver and Kidney Transplantation for Primary Hyperoxaluria Type 1 in a Paediatric Patient

Background and Aims: Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. There is deficiency of the liver-specific peroxisomal enzyme alanine glyoxylate aminotransferase (AGXT). It is a heterogeneous disease with wide spectrum of clinical, imaging and functional presentation. End Stage Renal Disease (ESRD) is a common presentation. We report a case of primary hyperoxaluria type 1 with ESRD, treated with simultaneous living donor liver and kidney transplantation. Case Summary: A ten-year-old girl, first of two children born to non-consanguineously married parents, presented with recurrent episodes of vomiting, abdominal distension, decreased urine output and growth retardation since one year. On evaluation, she was found to have ESRD due to primary hyperoxaluria type 1 (AGXT gene mutation compound heterozygous for c.33_34 dup C and p. L101P). She was started on maintenance haemodialysis thrice a week. She underwent combined liver (donor: paternal uncle, left lobe of liver with MHV) and kidney (donor: mother, right kidney) transplantation. Intra-operatively she received 4 units of blood transfusion and the procedure lasted for 11 h. Post-operatively renal graft functioned well, but liver graft had early dysfunction. She had prolonged hospital stay due to right pleural effusion which was finally treated with pleurodesis. She also had one episode of acute cellular rejection of liver graft which was treated as per our institutional protocol and she was discharged in stable condition. On follow up, she had one episode of acute rejection of kidney graft at 22 months after transplant and was treated with steroid pulse therapy. At present, she is 30-months post-transplantation, has gained weight and has normal liver function tests and mildly deranged but stable renal function tests. Conclusions: Our experience supports that the combined liver and kidney transplant provides good outcome in patients with ESRD due to Primary Hyperoxaluria type 1. The authors have none to declare.