title: Primary hyperoxaluria: spectrum of clinical and imaging findings.
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.
authors.affiliation: Division of Pediatric Radiology, Department of Radiology, Children's Hospital of Montefiore Medical Center, 111 E. 210th Street, Bronx, NY, 10467, USA.
authors.forename: Sara B
authors.initials: SB
authors.lastname: Strauss
authors.affiliation: Division of Pediatric Nephrology, Children's Hospital at Montefiore Medical Center, Bronx, NY, USA.
authors.forename: Temima
authors.initials: T
authors.lastname: Waltuch
authors.affiliation: Department of Pathology, Allegheny General Hospital, Pittsburgh, PA, USA.
authors.forename: William
authors.initials: W
authors.lastname: Bivin
authors.affiliation: Division of Pediatric Nephrology, Children's Hospital at Montefiore Medical Center, Bronx, NY, USA.
authors.forename: Frederick
authors.initials: F
authors.lastname: Kaskel
authors.affiliation: Division of Pediatric Radiology, Department of Radiology, Children's Hospital of Montefiore Medical Center, 111 E. 210th Street, Bronx, NY, 10467, USA. jebl1@optonline.net.
authors.forename: Terry L
authors.initials: TL
authors.lastname: Levin
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005838:Genotype; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000601:surgery*; D007223:Infant; D016030:Kidney Transplantation; D016031:Liver Transplantation
keywords: Calcium oxalate; Nephrocalcinosis; Oxalosis; Primary hyperoxaluria; Radiography