During the last years, the group of patients with the typical clinical signs of primary hyperoxaluria (PH), but negative diagnostic results for the two types of PH known up till then has grown increasingly larger [1, 2]. It was, however, always obvious that the dramatic clinical course of most of these patients with unclassified hyperoxaluria, e.g. recurrent calcium-oxalate (CaOx) kidney stones...

We report on a middle-aged man with end-stage renal failure apparently secondary to recurrent renal stones. He developed systemic oxalosis soon after commencing dialysis. The diagnosis of primary hyperoxaluria type 1 was supported by the finding of high dialysate glycolate excretion. The patient subsequently received an isolated cadaveric renal transplant, but the outcome was a rapid recurrence...

Primary hyperoxaluria is a rare, inherited autosomal recessive disease caused by defects in the metabolism of glyoxylate. Oral manifestations of hyperoxaluria are rare. However, bone and tooth resorption may be the result of chronic inflammation and the presence of osteoclastic cells surrounding the oxalate crystal deposit. A deposit of calcium oxalate in the periodontium was identified in a pa...

BACKGROUND Primary hyperoxaluria type 1 is a rare autosomal recessive disease of glyoxylate metabolism caused by a defect in the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT) that leads to hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis. METHODS Two unrelated patients with recurrent urolithiasis, along with members of their families, exhibited mutatio...

Primary hyperoxaluria is a rare autosomal recessive disease due to deficiency of an oxalate-metabolizing liver enzyme, which results in nephrolithiasis and renal failure. Concomitant liver and kidney transplant is recommended as isolated kidney transplant is inevitably complicated by recurrence of the disease. We present a 25-year-old man with end-stage nephrolithiatic renal disease who underwe...

John Knight, Ross P. Holmes, Scott D. Cramer, Tatsuya Takayama, and Eduardo Salido Departments of Urology and Cancer Biology, Wake Forest University Health Sciences, Winston-Salem, North Carolina; Department of Pharmacology, University of Colorado, Denver, Anschutz Medical Campus, Aurora, Colorado; and Center for Biomedical Research on Rare Diseases, Hospital Universitario Canarias, Instituto T...

1. The renal clearance of oxalate was studied in six normal subjects and in two patients with primary hyperoxaluria utilizing a constant infusion of [14C]oxalic acid. 2. The [14C]oxalate clearance in normal subjects was between 101 and 217 ml/min with a range in the ratio ofp4C]oxalate clearance to creatinine clearance of 1,33-2,09. 3. The oxalate clearance in two patients with primary hyperoxa...

A 56-year-old man with stable chronic kidney disease (CKD) for two years following a single episode of calcium oxalate urolithiasis developed progressive elevation of his serum creatinine concentration. Urinalysis revealed pyuria and white cell casts, a few red blood cells, minimal proteinuria, and no crystals. Urine culture was sterile. Gallium scintigraphy was consistent with interstitial nep...

OBJECTIVE The aim of this study was to determine the early effect of the administration of Oxalobacter formigenes on the metabolic pattern of patients with calcium oxalate stones, comparing it with potassium magnesium citrate (KMgCit). MATERIALS AND METHODS Eighty patients were randomized to receive either 30 mEq of KMgCit or 700 million O. formigenes, both twice a day. Serum creatinine, seru...