Cystine Urolithiasis in Early Childhood

Divyashree Bhat1, Raghu Shankar2, Rathika Damodara Shenoy3

  • 1Department of Surgery, K.S. Hegde Medical Academy, NITTE (Deemed to be University), Mangalore, Karnataka India.

Insights

Pediatric urolithiasis, or kidney stones in children, can stem from metabolic issues. This case highlights cystinuria, a rare but preventable cause of recurrent kidney stones and hematuria in infants.

Area of Science:

  • Pediatric Nephrology
  • Urology
  • Medical Genetics

Background:

  • Urolithiasis in children is uncommon, affecting approximately 1.8 per 1000 children.
  • Metabolic abnormalities are identified in 40-50% of pediatric stone cases, particularly those with multiple, recurrent, or bilateral stones.
  • Cystinuria represents a significant, yet preventable, etiology of urolithiasis.

Observation:

  • This report details an infant experiencing recurrent gross hematuria.
  • The hematuria was diagnosed as being caused by cystine urolithiasis.
  • The presentation in an infant underscores the condition's rarity.

Findings:

  • Confirmed diagnosis of cystine urolithiasis in an infant.
  • Established a link between cystinuria and recurrent gross hematuria in a pediatric patient.
  • Demonstrated the potential for severe urolithiasis presentation even in early infancy.

Implications:

  • Emphasizes the importance of considering metabolic evaluations, including cystinuria screening, in infants presenting with hematuria and suspected urolithiasis.
  • Highlights the need for early diagnosis and management of cystinuria to prevent recurrent stone formation and associated complications.
  • Contributes to the understanding of rare pediatric urolithiasis presentations and the significance of genetic metabolic disorders.

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