Primary Hyperoxaluria and Renal Cortical Nephrocalcinosis ? as a Cause of Renal Failure

A nine year old male child presented with end stage renal disease, needing emergency haemodialysis. During evaluation, he was diagnosed to have primary hyperoxaluria. The need for transplantation and the problems associated with an isolated renal transplantation were discussed with the patient. His parents subsequently opted for continuous ambulatory peritoneal dialysis. The Primary Hyperoxalurias (PH) are inborn errors of metabolism of Glyoxylate and oxalate resulting in an increase in the endogenous production of oxalate that in turn results in an excessive excretion of oxalates in urine. As a result of a high urinary oxalate excretion, the urine becomes supersaturated with calcium oxalate crystals, resulting in formation of crystals within the tubular lumen. PH therefore, manifests either as severe Nephrocalcinosis and/or urolithiasis. Transplantation in these patients with renal failure has to be done with extreme caution. It is sensible to combine Renal and liver transplantation in order to prevent recurrence of symptoms. The latency time between the presentation of symptoms and the time a diagnosis is made is too wide and protracted. Hence it is imperative to have a high index of suspicion in making a diagnosis of hyperoxaluria. Early diagnosis and appropriate treatment are obligatory to prevent this potentially devastating clinical condition.