Primary hyperoxaluria: spectrum of clinical and imaging findings

Sara B. Strauss, Temima Waltuch, William Bivin, Frederick Kaskel, Terry L. Levin

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

Primary hyperoxaluria is a rare autosomal recessive inborn error of metabolism with three known subtypes. In primary hyperoxaluria type 1, the most common of the subtypes, a deficiency in the hepatic enzymes responsible for the metabolism of glycoxylate to glycine, leads to excessive levels of glyoxylate, which is converted to oxalate. The resultant elevation in serum and urinary oxalate that characterizes primary hyperoxaluria leads to calcium oxalate crystal deposition in multiple organ systems (oxalosis). We review the genetics, pathogenesis, variable clinical presentation and course of this disease as well as its treatment. Emphasis is placed on the characteristic imaging findings before and after definitive treatment with combined liver and renal transplantation.

Original languageEnglish (US)
Pages (from-to)96-103
Number of pages8
JournalPediatric radiology
Volume47
Issue number1
DOIs
StatePublished - Jan 1 2017

Keywords

  • Calcium oxalate
  • Nephrocalcinosis
  • Oxalosis
  • Primary hyperoxaluria
  • Radiography

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging

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