Primary hyperoxalurias: diagnosis and treatment

Pediatr Nephrol. 2015 Oct;30(10):1781-91. doi: 10.1007/s00467-014-3030-1. Epub 2014 Dec 18.

Abstract

Primary hyperoxalurias (PH) comprise a group of three distinct metabolic diseases caused by derangement of glyoxylate metabolism in the liver. Recent years have seen advances in several aspects of PH research. This paper reviews current knowledge of the genetic and biochemical basis of PH, the specific epidemiology and clinical presentation of each type, and therapeutic approaches in different disease stages. Potential future specific therapies are discussed.

Publication types

  • Review

MeSH terms

  • Genetic Predisposition to Disease*
  • Genetic Testing / methods*
  • Humans
  • Hyperoxaluria, Primary* / diagnosis
  • Hyperoxaluria, Primary* / genetics
  • Hyperoxaluria, Primary* / therapy
  • Mutation / genetics
  • Nephrolithiasis / diagnosis
  • Nephrolithiasis / etiology*
  • Oxalates / metabolism
  • Renal Replacement Therapy / methods*
  • Transaminases / genetics

Substances

  • Oxalates
  • Transaminases
  • Alanine-glyoxylate transaminase