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Bilateral obstructing ureteral uric acid stones in an infant with hereditary renal hypouricemia
O Gofrit1, A G Verstandig, D Pode
1Department of Urology, Hadassah University Hospital, Jerusalem, Israel.
Insights
A young boy with hereditary renal hypouricemia experienced acute kidney injury from uric acid stones. He was successfully treated with extracorporeal shock wave lithotripsy, highlighting a rare genetic disorder.
Area of Science:
- Pediatric Nephrology
- Medical Genetics
- Urology
Background:
- Hereditary renal hypouricemia is a rare genetic condition affecting kidney function.
- Uric acid nephrolithiasis can lead to severe complications like acute renal failure.
Observation:
- A 15-month-old boy presented with acute renal failure, anuria, and sepsis.
- The cause was bilateral obstructing ureteral uric acid stones.
- A family metabolic survey identified isolated renal hypouricemia and hyperuricosuria in four siblings.
Findings:
- The patient was successfully treated with extracorporeal shock wave lithotripsy (ESWL).
- This case represents the youngest reported instance of hereditary renal hypouricemia.
- The study identified a rare hereditary disorder affecting uric acid transport in the kidneys.
Implications:
- Early diagnosis and intervention are crucial for managing hereditary renal hypouricemia.
- Extracorporeal shock wave lithotripsy is an effective treatment for uric acid stones in young children.
- Understanding the genetic basis of renal hypouricemia can inform future therapeutic strategies.
Abstract:
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.