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Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease

E Azizi1, G Eshel, M Aladjem

  • 1Department of Paediatrics, Sackler School of Medicine, Tel Aviv University, Zerifin, Israel.

European Journal of Pediatrics
|April 1, 1989
PubMed

Insights

Recurrent kidney stones in children may signal Wilson disease, a rare genetic disorder. Early diagnosis through copper level testing is recommended for affected pediatric patients.

Area of Science:

  • Pediatric Nephrology
  • Hepatology
  • Medical Genetics

Background:

  • Nephrolithiasis, or kidney stones, can present in children with diverse underlying causes.
  • Wilson disease is an autosomal recessive genetic disorder characterized by excessive copper accumulation in organs.

Observation:

  • A 9-year-old boy experienced recurrent renal colic (kidney pain).
  • Wilson disease was diagnosed in the patient one year after the initial presentation of renal colic.

Findings:

  • The case highlights a potential link between pediatric nephrolithiasis and undiagnosed Wilson disease.
  • Elevated copper levels and impaired copper excretion are hallmarks of Wilson disease.

Implications:

  • Routine evaluation of liver function and copper metabolism (serum copper, caeruloplasmin, urinary copper) is suggested for children with kidney stones.
  • This approach may facilitate earlier diagnosis of Wilson disease in pediatric patients presenting with nephrolithiasis.
  • Prompt diagnosis and management of Wilson disease can prevent severe liver and neurological complications.

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