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Related Experiment Videos

Nephrocalcinosis in a patient with primary hyperoxaluria type 2

M J Kemper1, D E Müller-Wiefel

  • 1Division of Pediatric Nephrology, University Children's Hospital, Hamburg, Germany.

Pediatric Nephrology (Berlin, Germany)
|August 1, 1996
PubMed
Summary

Primary hyperoxaluria type 2 (PH 2) rarely causes nephrocalcinosis, a kidney calcification. This case highlights a PH 2 infant with severe nephrocalcinosis but stable kidney function, challenging typical outcomes.

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Area of Science:

  • Nephrology
  • Medical Genetics
  • Biochemistry

Background:

  • Primary hyperoxaluria type 2 (PH 2) is a rare metabolic disorder.
  • It is typically associated with a better renal prognosis compared to PH 1.
  • Nephrocalcinosis is an uncommon finding in PH 2.

Observation:

  • An 8-month-old infant presented with recurrent urinary tract infections.
  • Imaging revealed severe corticomedullary nephrocalcinosis without kidney stones.
  • Biochemical analysis confirmed elevated urinary oxalate and D-glycerate, consistent with PH 2.

Findings:

  • The patient exhibited significant nephrocalcinosis progression over two years.
  • Despite radiological progression, renal function remained stable during the observation period.

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  • Absence of urinary glycolate and glyoxylate supported the PH 2 diagnosis.

    • Implications:

    • This case suggests that severe nephrocalcinosis can occur in PH 2.
    • The long-term impact of nephrocalcinosis on renal prognosis in PH 2 requires further investigation.
    • Understanding this association may refine diagnostic and management strategies for PH 2.