title: 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.
authors: Department of Nephrology and Hypertension, Scott and White Memorial Hospital, Texas A&M University Health Science Center, Temple, Texas 76508, USA. nmunshi@swmail.sw.org
authors: Nidhi M
authors: NM
authors: Munshi
authors: Luis
authors: L
authors: Concepcion
authors: Mohanram
authors: M
authors: Narayanan
mesh_terms: D000671:Amputation, Surgical; D005260:Female; D005734:Gangrene / Q000209:etiology* / Q000601:surgery / Q000652:urine; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000209:etiology* / Q000235:genetics / Q000601:surgery / Q000652:urine; D035002:Lower Extremity / Q000473:pathology; D008875:Middle Aged