Always look beyond the stones: hyperoxaluria overlooked

ABSTRACT

We report a case of hyperoxaluria type I in a nine-yearold boy with nephrolithiasis. His initial management included multiple percutaneous nephrolithomies and lithotripsy. Metabolic screening was not undertaken initially. Hyperoxaluria was finally diagnosed by elevated urine oxalate [1.363 mmol/24h]. A diagnosis of hyperoxaluria type I was confirmed by liver biopsy. His kidney function was nearly normal and he was started on pyridoxine and crystallization inhibitors. He will require a liver transplant to cure his primary hyperoxaluria. Clinical clues of primary hyperoxaluria type I are positive family history or presentation with several renal stones. Irrespective of the above, all patients with first presentation of renal calculi should undergo metabolic screening including urinary oxalate level determination