Primary hyperoxaluria causing ESRD and gangrene of extremities leading to amputation |
| |
Authors: | Nidhi M. MUNSHI Luis CONCEPCION Mohanram NARAYANAN |
| |
Affiliation: | Department of Nephrology and Hypertension, Scott and White Memorial Hospital, Texas A&M University Health Science Center, Temple,Texas, USA |
| |
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. |
| |
Keywords: | Primary hyperoxaluria ESRD gangrene nephrolithiasis |
|
|