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xanthinuria
Autosomal recessive disorder in which homozygotes develop urolithiasis.
Pathology:
- deficiency in xanthine oxidase
- cannot metabolize allopurinol into oxypurinol
Genetics:
- associated with defects in MOCOS gene (type 2)
- associated with defects in XDH
Laboratory:
- low serum & urine levels of uric acid
- 24 hour urine
- excretion of large amounts of xanthine, but little uric acid in the urine
Radiology: stones are radiolucent
Management:
1) fluids
2) alkalinization of urine
3) allopurinol
Interactions
disease interactions
Related
uric acid stone (urate nephropathy, gouty nephropathy)
General
genetic disease of the kidney
Database Correlations
OMIM correlations
References
- Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed)
Lippincott-Raven, Philadelphia, 1998, pg 616
- UniProt :accession Q96EN8, P47989