xanthinuria

Introduction

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

• fluids
• alkalinization of urine
• allopurinol

More general terms

• genetic disease of the kidney

Additional terms

• uric acid stone (urate nephropathy, gouty nephropathy)

Database

• OMIM: https://mirror.omim.org/entry/603592
• OMIM: https://mirror.omim.org/entry/278300