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

Rachel Stern1, Vicky Kuo1, Sarah Rogal1

  • 1Department of Pediatrics, Jacobi Medical Center, 1400 Pelham Parkway, Bronx, NY 10461, USA.

Radiology Case Reports
|August 15, 2020
PubMed

Insights

Primary hyperoxaluria type 1, a rare genetic disorder, caused kidney stones in an infant. This case highlights a unique early presentation without kidney failure, suggesting a potential new comorbidity.

Area of Science:

  • Nephrology
  • Genetics
  • Pediatrics

Background:

  • Primary hyperoxaluria type 1 is an inherited metabolic disorder.
  • It leads to excessive oxalate production and deposition in the kidneys.

Observation:

  • An 8-month-old female infant presented with failure to thrive and poor oral intake.
  • The infant also had kidney stones, leading to the diagnosis.

Findings:

  • The patient was diagnosed with primary hyperoxaluria type 1.
  • Notably, the infant did not exhibit renal failure at diagnosis, a unique presentation.

Implications:

  • This case suggests a previously unreported comorbidity in early-stage primary hyperoxaluria type 1.
  • Further research is needed to understand this association and its impact on disease progression.

Keywords:
Failure to thriveKidney stonePrimary HyperoxaluriaUltrasound

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