Radiology Case Reports (Oct 2020)

A case of failure to thrive secondary to primary hyperoxaluria type 1

  • Rachel Stern, MD,
  • Vicky Kuo, MD,
  • Sarah Rogal, MD, MPH,
  • Carly Barron, MD,
  • Raidour Ahmed, MD,
  • Bernard Goldwasser, MD

Journal volume & issue
Vol. 15, no. 10
pp. 1806 – 1808

Abstract

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Primary hyperoxaluria type 1 is a rare genetic condition characterized by oxalate deposition in the kidneys. We report findings of an 8-month old female presenting with failure to thrive, poor oral intake, and kidney stones resulting in the diagnosis of primary hyperoxaluria type 1. The patient exhibits a unique presentation without renal failure at the time of diagnosis suggesting a previously unreported comorbidity in early stages of disease.

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