Author/Authors :
Siegal, D. McMaster University and St. Joseph’s Health Care - Division of Nephrology and Transplantation, Canada , Su, W. S. McMaster University and St. Joseph’s Health Care - Division of Nephrology and Transplantation, Canada , DaBreo, D. McMaster University and St. Joseph’s Health Care - Division of Nephrology and Transplantation, Canada , Puglia, M. McMaster University - Division of Gastroenterology, Canada , Gregor, L. Grand River Hospital - Division of Nephrology, Canada , Gangji, A. S. McMaster University and St. Joseph’s Health Care - Division of Nephrology and Transplantation, Canada
Abstract :
Primary hyperoxaluria type-1 (PH1) is a rare inherited autosomal recessive disorder in whicha deficiency of the hepatic enzyme alanine-glyoxylate aminotransferase leads to endogenous oxalate overproduction, renal failure, systemic oxalate deposition and death. As hemodialysis provides insufficient oxalate clearance, patients ultimately require both liver and kidney transplantation for correction of the metabolic abnormality and oxalate excretion. Herein, we describe a young adult male with end-stage renal disease and systemic oxalosis causing progressive disabling multi-organ dysfunction while awaiting transplantation. We review the literature regarding liver-kidney transplantation and suggest that for patients with PH1, a standardized assessment of organ dysfunction and functional impairment may improve identification of patients requiring urgent transplantation thereby reducing the morbidity and mortality that can occur with delayed transplantation.
