Primary hyperoxaluria

Last revised by Dr Mostafa El-Feky on 05 Mar 2021

Primary hyperoxaluria, also referred as primary oxalosis, is a congenital autosomal recessive disease related to a liver enzyme deficiency leading to massive cortical nephrocalcinosis and renal failure

Please, refer to secondary oxalosis for a discussion on the acquired form of hyperoxaluria.  

Hyperoxaluria is an autosomal recessive disorder and is more common in Mediterranean countries. The most common subtype is primary hyperoxaluria type 1 which is responsible for approximately 80% of cases 3.

Typical presentation is nephrolithiasis and global (cortical and medullary) nephrocalcinosis at an early age.

It has three types due to the defects in the gene that encodes following enzymes:

  • glyoxylate aminotransferase
  • glyoxylate reductase/hydroxypyruvate reductase
  • liver-specific mitochondrial 4-hydroxy-2-oxoglutarate aldolase enzyme

Plain radiographs demonstrate osteosclerosis as well as osteopenia. Other skeletal abnormalities include fine transverse lines of increased bone density located in areas of rapid growth, submarginal metaphyseal lucency, wide translucent metaphyseal zone with sclerosis of the adjacent diaphysis, and metaphyseal “waisting” or focal narrowing.

Diagnosis by usually by bone (iliac crest) biopsy.

Treatment is with a combined liver and renal transplantation (the liver is to rectify the enzyme deficiency, not because of liver failure).

The pyridoxine supplementation may be used in conjunction with combined liver-kidney transplantation to enhance the alternative pathway of glyoxylate metabolism to glycine and, therefore, reduce the amount of glyoxylate available for conversion to oxalate.

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Cases and figures

  • Case 1a: osteopenia and central line
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  • Case 1b: nephrocalcinosis
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  • Case 2a: nephrocalcinosis
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  • Case 2b: osteosclerosis
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