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Xanthine calculi presenting at 1 month of age
E Badertscher1, W L Robson, A K Leung
1Department of Internal Medicine, University of Calgary, Alberta, Canada.
Insights
Xanthinuria, a rare inherited purine metabolism disorder, causes xanthine calculi (kidney stones) in children. Early diagnosis is crucial, as this case presented at just one month old.
Area of Science:
- Pediatric Nephrology
- Metabolic Disorders
- Urolithiasis
Background:
- Xanthinuria is a rare genetic disorder affecting purine metabolism.
- It typically leads to the formation of xanthine calculi (kidney stones).
- Nephrolithiasis in children necessitates a broad differential diagnosis.
Observation:
- A 5-year-old boy presented with recurrent renal colic.
- His initial symptoms of xanthine calculi appeared at one month of age, the youngest documented case.
- Clinical signs included suspected urinary tract infections with negative cultures and orange-brown urine sediment.
Findings:
- Xanthine calculi can manifest very early in infancy.
- This rare condition should be considered in pediatric nephrolithiasis and ureterovesical junction obstruction.
- Characteristic urine sediment or staining can be indicative of xanthine calculi.
Implications:
- Highlights the importance of considering inborn errors of metabolism in pediatric urolithiasis.
- Suggests xanthine calculi should be included in the differential diagnosis for unexplained urinary symptoms in children.
- Emphasizes the need for early recognition and management of xanthinuria to prevent complications.
Abstract:
Xanthinuria is a rare cause of nephrolithiasis and is usually due to an inherited abnormality in purine metabolism. A 5-year 6-month-old boy was assessed for a history of recurrent episodes of renal colic. The child first presented with symptoms due to xanthine calculi at 1 month of age, the youngest presentation we were able to identify. Xanthine calculi, although rare, should be considered in the differential diagnosis of nephrolithiasis and ureterovesical junction obstruction in children. Xanthine calculi should also be considered when symptoms suggestive of urinary tract infection are present but the urine culture is negative, and when an orange-brown sediment is noted in the urine or similar coloured stains are found in the nappy.