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Oxalosis

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Dr Ashwani Gupta, New Delhi    29 November 2019

  • Primary hyperoxaluria is an inborn error of glyoxylate metabolism, over production of oxalate in liver, due to enzyme deficiency, inherited as autosomal recessive disorder.
  • Manifestation: Nephrolithiasis, nephrocalcinosis, chronic kidney disease.
  • Systemic oxalosis is deposition of oxalates in tissues.
  • Conventional HD or PD does not eliminate sufficient oxalate.
  • Future of treatment: Cell therapy; Hepatocyte transplantation; Gene transfer; RNA interference therapeutic targeting glycolate oxidase; Pharmacologic chaperones.

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