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Anuria due to bilateral cystine urolithiasis in an infant
Helvetica Paediatrica Acta
|March 1, 1987
Insights
Bilateral ureteral obstruction from cystine stones caused anuria in a 10-month-old infant. This rare presentation highlights cystinuria as a cause of infant kidney stones.
Area of Science:
- Pediatric Nephrology
- Urology
- Medical Genetics
Background:
- Cystinuria is a rare inherited metabolic disorder characterized by defective renal reabsorption of amino acids, particularly cystine.
- Urolithiasis in infants is uncommon, and bilateral ureteral obstruction is exceptionally rare.
Observation:
- A 10-month-old female infant presented with complete anuria (cessation of urine production).
- Diagnostic imaging revealed bilateral ureteral obstruction caused by large cystine calculi (stones).
Findings:
- The infant's anuria was directly attributed to bilateral cystine urolithiasis obstructing both ureters.
- This case demonstrates that cystinuria can manifest with severe urological complications, including bilateral ureteral obstruction, even in the first year of life.
Implications:
- Early diagnosis and management of cystinuria are crucial to prevent severe renal damage and life-threatening complications like anuria in infants.
- This case underscores the importance of considering metabolic disorders like cystinuria in the differential diagnosis of anuria or obstructive uropathy in young children.
- Increased awareness among pediatricians and nephrologists regarding the potential for severe urolithiasis in infantile cystinuria is warranted.
Abstract:
A 10-month-old female presented with anuria due to bilateral cystine urolithiasis. Although bilateral obstruction of the ureters by calculi is very rare in children, it may be the presenting feature of cystinuria even in the first year of life.