|
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
|
