THE DIAGNOSIS AND FOLLOW-UP IN TWO BROTHERS WITH PRIMARY HYPEROXALURIA

A 16 year old boy with end stage renal disease secondary to bilateral urolithiasis underwent bilateral nephrectomy because of recurrent urinary tract infections.Histopathologic examination of the renal tissue was compatible with oxalosis.After that, the ounger brother of the patient was found to excrete high levels of oxalate in the urine.Thus, the diagnosis of primary hyperoxaluria was made in these siblings.

We think that the patients being evaluated for renal transplantation due to end stage renal disease and having a family history of urolithiasis should also be evaluated for primary hyperoxaluria, taking the high rate of consanguinous marriage in our population into consideration.However, it is difficult to make the diagnosis of primary renal disease after end stage renal disease ensues.Thus, in the patients with nephrocalcinosis and / or renal stones undergoing to chronic hemodialysis, evaluation of the renal tissue could be considered in revealing the underlying etiology, since the clinical and laboratory data related to primary hyperoxaluria are limited.