Primary hyperoxaluria

spectrum of clinical and imaging findings

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

Research output: Contribution to journalArticle

5 Citations (Scopus)

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)1-8
Number of pages8
JournalPediatric Radiology
DOIs
StateAccepted/In press - Nov 14 2016

Fingerprint

Primary Hyperoxaluria
Oxalates
Hyperoxaluria
Inborn Errors Metabolism
Calcium Oxalate
Liver Transplantation
Kidney Transplantation
Glycine
Liver
Enzymes
Therapeutics
Serum

Keywords

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

ASJC Scopus subject areas

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

Cite this

Primary hyperoxaluria : spectrum of clinical and imaging findings. / Strauss, Sara B.; Waltuch, Temima; Bivin, William; Kaskel, Frederick J.; Levin, Terry L.

In: Pediatric Radiology, 14.11.2016, p. 1-8.

Research output: Contribution to journalArticle

Strauss, Sara B. ; Waltuch, Temima ; Bivin, William ; Kaskel, Frederick J. ; Levin, Terry L. / Primary hyperoxaluria : spectrum of clinical and imaging findings. In: Pediatric Radiology. 2016 ; pp. 1-8.
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