2,8-Dihydroxyadenine renal stones in a 41-year-old man.

Abstract:

:A case is presented of a 41-year-old man with a history of recurrent renal stones over 10 years. Analysis of the stone showed that, although it gave a positive reaction with the non-specific phosphotungstic acid test, uricase failed to identify any urate present. Analysis in a reference laboratory confirmed its composition as dihydroxyadenine. Patients who are homozygous for the rare autosomal-recessive adenine phosphoribosyltransferase deficiency, excrete large amounts of 2,8-dihydroxyadenine, which has poor solubility at normal urinary pH. Treatment with the xanthine oxidase inhibitor allopurinol induces a total cessation of stone formation. Increased awareness of the condition and knowledge of the limitations of some methods of laboratory analysis for renal stones should help to identify this type of stone and prevent renal damage.

journal_name

Ann Clin Biochem

authors

Wilkinson H,Samuell C,Stower M

doi

10.1258/000456304322880087

subject

Has Abstract

pub_date

2004-03-01 00:00:00

pages

160-1

issue

Pt 2

eissn

0004-5632

issn

1758-1001

journal_volume

41

pub_type

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