2,8-dihydroxyadenuria

Introduction

Autosomal recessive disorder in which homozygotes develop urolithiasis. Stones resemble uric acid stones

Genetics

deficiency in adenine phosphoribosyltransferase

Management

allopurinol

More general terms

• genetic disease of the kidney

Additional terms

• adenine phosphoribosyltransferase (APRT)
• urinary calculus (stone, nephrolithiasis, urolithiasis)