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Article

[2,8-dihydroxyadenine urolithiasis: case report and literature review].

Urologia - 1 Jan 2000

Arancio Matteo, Ranzoni Stefania, Delsignore Alessandro, Landi Giuseppe, Maffei Nicola, Marcato Maurizio, Mina Alessandro, Martinengo Carlo

Abstract excerpt

INTRODUCTION: 2,8-Dihydroxyadenine (DHA) urolithiasis is a rare type of urinary stone disease secondary to deficiency of adenine phosphoribosyltransferase (APRT) activity, a rare, inherited autosomal recessive disease with an incidental rate from 0.4 to 1.2%. The prevalence is higher among Japanese than other ethnic groups. APRT normally catalyzes the conversion of adenine to adenosine monophosphate and its...

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Identifiers

PMID: 21553389
DOI: 10.5301/RU.2011.8307

Genes

APRT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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