Primary hyperoxaluria causing ESRD and gangrene of extremities leading to amputation

Abstract

Primary hyperoxaluria is an uncommon, inherited metabolic disorder due to hepatic enzyme deficiencies with consequent hepatic oxalate overproduction and attendant systemic complications. The diagnosis is established on a combination of clinical parameters, elevated urinary excretion of oxalate and glycolate and determination of alanine glyoxylate aminotransferase in the liver tissue. We describe a 45-year-old female with end-stage renal disease secondary to nephrolithiasis, who presented with a fulminating vascular syndrome before confirming the diagnosis of primary hyperoxaluria. This case illustrates that in this infrequent clinical entity, the diagnosis is often delayed with incorrect initial management.