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January 20, 2026Journal of Medical Case Reports0 citationsOpen Access

Hyperoxaluria by the AGXT gene: a case report

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ANAlessandra Vitorino NaghettiniAMAlice Leite MesquitaASAndrielle Nunes Santos

Key Points

  • The aim is to highlight the role of AGXT gene variants in diagnosing primary hyperoxaluria type 1 and its implications for treatment.
  • Reported a case of primary hyperoxaluria type 1 due to AGXT gene variants.
  • Discussed the importance of genetic testing in children with nephrocalcinosis or nephrolithiasis.
  • Analyzed potential cost-effectiveness of early diagnosis and treatment.
  • Identification of AGXT variants provided key insights for prognosis and treatment decisions.
  • Early genetic testing is suggested to reduce healthcare costs related to end-stage renal disease.
  • Timely diagnosis may facilitate targeted treatment and family screening.

Abstract

Primary hyperoxaluria type 1 remains a diagnostic and therapeutic challenge, particularly in resource-limited settings. Identification of specific AGXT variants offers key prognostic and therapeutic insights. Early genetic testing in children with unexplained nephrocalcinosis or recurrent nephrolithiasis may be cost-effective, enabling timely diagnosis, targeted treatment, and family screening while reducing the long-term burden and healthcare costs associated with end-stage renal disease.

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Cite This Study

Naghettini et al. (2026) studied this question.

synapsesocial.com/papers/696f1a9f9e64f732b51eef48https://doi.org/10.1186/s13256-025-05796-w
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