Gofrit O, Verstandig A G, Pode D
Department of Urology, Hadassah University Hospital, Jerusalem, Israel.
J Urol. 1993 Jun;149(6):1506-7. doi: 10.1016/s0022-5347(17)36428-5.
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.
我们报告了一名15个月大的患有肾性低尿酸血症的男孩，他因双侧输尿管尿酸结石导致急性肾衰竭、无尿和败血症。他通过体外冲击波碎石术成功治愈。对10名亲属的代谢调查发现，4名兄弟姐妹患有罕见的遗传性疾病：孤立性肾性低尿酸血症和高尿酸尿症。据我们所知，这是遗传性肾性低尿酸血症报告中最年轻的病例，也是接受体外冲击波碎石术治疗的最年轻患者之一。
