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 demonstrated that, although primary hyperoxaluria type 2 is rare, hyperoxaluria should be suspected and blood oxalate and stone component be examined in patients with recurrent episodes of nephrolithiasis, particularly in those who are unresponsive to conventional therapies. Combined liver-kidney transplant may be required as kidney transplant alone is not likely to be successful.
Keywords: primary hyperoxaluria; renal calculus; renal transplant.