Bilateral obstructing ureteral uric acid stones in an infant with hereditary renal hypouricemia.
We report on a 15-month-old boy with renal hypouricemia who presented with acute renal failure, anuria and sepsis due to bilateral obstructing ureteral uric acid stones. He was treated successfully with extracorporeal shock wave lithotripsy. Metabolic survey of 10 relatives revealed a rare hereditary disorder in 4 siblings: isolated renal hypouricemia and hyperuricosuria. To our knowledge this is the youngest reported case of hereditary renal hypouricemia and 1 of the youngest patients to be treated with extracorporeal shock wave lithotripsy.
Department of Urology, Hadassah University Hospital, Jerusalem, Israel.
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D058186:Acute Kidney Injury / Q000209:etiology*; D006801:Humans; D007223:Infant; D008096:Lithotripsy; D008297:Male; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics*; D014514:Ureteral Calculi / Q000737:chemistry / Q000150:complications* / Q000628:therapy; D014517:Ureteral Obstruction / Q000150:complications*; D014527:Uric Acid / Q000032:analysis / Q000097:blood*
D014527:Uric Acid