Primary hyperoxaluria type 2 is a rare autosomal recessive disorder caused by glyoxylate reductase/hydroxypyruvate reductase deficiency and characterized by recurrent episodes of nephrolithiasis and nephrocalcinosis. Herein, we describe a case of primary hyperoxaluria type 2 in a 33-year-old man who failed to respond to conventional therapies; thus renal transplantation was performed. This case...

Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis, systemic oxalosis, and kidney failure. We present a young woman with end-stage renal disease who received a kidney allograft and experienced early ...

Considering the clinical heterogeneity of primary hyperoxaluria type I (PH1) and the fact that in many instances this diagnosis was made without enzymatic and immunohistochemical investigation, other disturbances of oxalate metabolism than those presently known can be expected in PH1. Using a gaschromatographic/mass spectrometric method that allows quantification of these acids, hyperoxaluria a...

Primary hyperoxaluria is a rare hereditary metabolic disorder resulting in accumulation of calcium oxalate in visceral organs, including the heart. We report a 19-year-old male with non- compaction cardiomyopathy combined with patent ductus arteriosus awaiting combined liver-kidney transplantation for primary hyperoxaluria. After surgical closure of the patent ductus arteriosus, the patient und...

Valman, H. B., Oberholzer, V. G., and Palmer, T. (1974). Archives of Disease in Childhood, 49, 171. Hyperoxaluria after resection of ileum in childhood. Hyperoxaluria was found in 4 of 10 children who had had resection of the ileum. There was no relation between hyperoxaluria and the length of the resection or period since the resection. Previous studies have shown reduced ratios of taurine-con...

We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular acidosis (dRTA) with sensorineural hearing loss. Uncharacteristically, he presented with mild acidosis, hypokalaemia and hypocalciuria as well as unilateral sensorineural hearing loss. Subsequent investigations led to the discovery of both hyperoxaluria and beta2-microglobulinuria, thereby expandin...

Bariatric surgery as a means to treat obesity is becoming increasingly common in the United States. An early form of bariatric surgery, the jejunoileal bypass, had to be abandoned in 1980 due to numerous complications, including hyperoxaluria and kidney stones. Current bariatric procedures have not been systematically evaluated to determine if they cause hyperoxaluria. Presented here are data s...

Urolithiasis is a frequent urological condition and oxalate plays an important role in kidney stone formation. Since hyperoxaluria seems to be one of the main risk factors for developing recurrent kidney stones and progressive nephrocalcinosis, many researches are focused on lowering the urinary oxalate. For now, treatment of hyperoxaluria consists of dietary oxalate restrictions and/or therape...

Enteric hyperoxaluria can lead to renal failure. There have only been a few reports of renal transplantation as treatment of endstage renal disease secondary to enteric hyperoxaluria and results have been mixed. This report describes a patient with Crohn's disease who developed chronic renal failure from enteric hyperoxaluria. He subsequently had a successful renal transplant without any post-o...