Cystinuria
Cystinuria is an autosomal recessive disorder characterised by the formation of recurrent renal stones. It is due to a defect in the membrane transport of cystine, ornithine, lysine, arginine (mnemonic = COLA)
Genetics
Features
Diagnosis
Management
Genetics
- chromosome 2: SLC3A1 gene, chromosome 19: SLC7A9
Features
- recurrent renal stones
- are classically yellow and crystalline, appearing semi-opaque on x-ray
Diagnosis
- cyanide-nitroprusside test
Management
- hydration
- D-penicillamine
- urinary alkalinization