PRIMARY OXALURIA PRESENTING WITH RECURRENT URINARY TRACT INFECTION AND RENAL FAILURE

Primary hyperoxaluria is a rare autosomal recessively inherited disorder. It is caused by deficiency of the liver peroxisomal enzyme alanine glyoxylate-aminotransferase which is used in conversion of glyoxylate to glycine. PH is characterized by progressive renal insufficiency culminating in end-stage renal disease and a wide range of clinical features related to systemic oxalosis in different organs. Acute renal failure is a dreaded complication, hence early management is essential.Case report3 year old boy presented with acute renal failure. Evaluation revealed bilateral moderate hydronephrosis with renal calculi. 24hr urine analysis revealed high oxalate levels suggestive of Hyperoxaluria.ConclusionPaediatricians need to be aware of Hyperoxaluria in any child who presents with recurrent renal stones. Metabolic workup is essential to make the diagnosis. Haemodialysis could be done as emergency bridge therapy while awaiting transplant. Early combined renal and liver transplantation ensures survival however delay in diagnosis leads to poor outcome.