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:
- Cochat P, Rumsby G. Primary Hyperoxaluria. N Engl J Med. 2013 Aug 15;369(7):649-658. [Medline]
- Hoppe B. An update on primary hyperoxaluria. Nat Rev Nephrol. 2012 Jun 12;8(8):467-75.[Medline]
Created Aug 26, 2013.
