Primary hyperoxaluria: spectrum of clinical and imaging findings

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 glyox...

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Bibliographic Details
Published in:Pediatric radiology 2017, Vol.47 (1), p.96-103
Main Authors: Strauss, Sara B., Waltuch, Temima, Bivin, William, Kaskel, Frederick, Levin, Terry L.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age Factors
Child
Child, Preschool
Diagnosis, Differential
Genotype
Humans
Hyperoxaluria, Primary - diagnostic imaging
Hyperoxaluria, Primary - genetics
Hyperoxaluria, Primary - surgery
Imaging
Infant
Kidney Transplantation
Liver Transplantation
Medicine
Medicine & Public Health
Neuroradiology
Nuclear Medicine
Oncology
Pediatrics
Pictorial Essay
Radiology
Ultrasound
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Summary: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.
ISSN:0301-0449
1432-1998
DOI:10.1007/s00247-016-3723-7