Features and Treatment of the Inherited Primary Hyperoxalurias

The autosomal recessive inherited primary hyperoxalurias types I, II and III are caused by defects in glyoxylate metabolism that lead to the endogenous overproduction of oxalate.

Primary hyperoxaluria should be considered in any patient with a history of recurrent calcium oxalate stones, nephrocalcinosis, or both.

Features and Treatment of the Inherited Primary Hyperoxalurias.

Feature Type 1 Type 2 Type 3
Chromosomal location 2q37.3 9p13.2 10q24.2
Age at onset All ages, although mostly in childhood All ages All ages
Presentation Calcium oxalate renal stones, nephrocalcinosis, renal failure Calcium oxalate renal stones Calcium oxalate renal stones
Treatment
Supportive treatment Hydration, citrate, pyridoxine Hydration, citrate Hydration, citrate
Transplantation Liver and kidney Kidney Not required – no reported cases of renal failure to date

 

 

References:

  1. Cochat P, Rumsby G. Primary Hyperoxaluria. N Engl J Med. 2013 Aug 15;369(7):649-658. [Medline]
  2. Hoppe B. An update on primary hyperoxaluria. Nat Rev Nephrol. 2012 Jun 12;8(8):467-75.[Medline]

Created Aug 26, 2013.