Table 1 Hallmarks of APRT deficiency and primary hyperoxaluria type 1. (APRT: Adenine phosphoribosil transferase, AGT: alanine-glyoxylate aminotransferase
| Â | APRT deficiency | Primary hyperoxaluria type 1 |
|---|---|---|
Inheritance | autosomal recessive | autosomal recessive |
Enzyme deficiency/tissue expression | APRT/ubiquitous | AGT/liver |
Disease causing end-product | 2,8 dihydroxyadenine | oxalate |
Urinary crystals | 2,8 dihydroxyadenine | calcium oxalate monohydrate |
Age at diagnosis | from infancy to adulthood | from infancy to adulthood |
Clinical manifestations | ||
- kidney stones | yes, radiolucent | yes, radiopaque |
- nephrocalcinosis | no | yes |
- crystalline nephropathy | yes | yes |
- extrarenal manifestations | no | systemic, especially bones, blood vessels, heart, retina |
Reccurrence on renal allograft | yes | yes |