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Article

Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuria.

Pediatric nephrology (Berlin, Germany) - 1 Oct 2026

Edvardsson Vidar O, Runolfsdottir Hrafnhildur L, Palsson Runolfur

Abstract excerpt

Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive disorder of purine metabolism causing 2,8-dihydroxyadenine urinary tract stones and crystal nephropathy. Disease manifestations include acute kidney injury (AKI), progressive chronic kidney disease (CKD), and not infrequently, kidney failure. A significant proportion of affected individuals remain asymptomatic into adulthood. The...

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Identifiers

PMID: 41820602
DOI: 10.1007/s00467-026-07187-9
PMCID: PMC13481733

Genes

APRT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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