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Table 1 Hallmarks of APRT deficiency and primary hyperoxaluria type 1. (APRT: Adenine phosphoribosil transferase, AGT: alanine-glyoxylate aminotransferase

From: Recurrence of crystalline nephropathy after kidney transplantation in APRT deficiency and primary hyperoxaluria

  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