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Article

Hyperoxaluria by the AGXT gene: a case report.

Journal of medical case reports - 17 Jan 2026

Naghettini Alessandra Vitorino, Mesquita Alice Leite, Santos Andrielle Nunes, Moreira Juliana Vieira Peixoto, de Oliveira Maysa Campos Mota, Fortes Patrícia Marques

Abstract excerpt

BACKGROUND: This report details a case of AGXT gene mutation in a male patient, 9 years 6 months old, Portuguese ethnicity, with history of nephrocalcinosis and recurrent nephrolithiasis in childhood, which progressed to chronic kidney disease. It illustrates the diagnostic and therapeutic implications of identifying an AGXT c.33dup (p.Lys12Glnfs156) variant in a patient with primary hyperoxaluria type 1....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41547840
DOI: 10.1186/s13256-025-05796-w
PMCID: PMC12895915

Genes

AGXT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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