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Hereditary xanthinuria

Last edited: 4/15/2026

Overview

Hereditary xanthinuria is a rare genetic disorder characterized by the deficiency of xanthine oxidase, leading to elevated levels of hypoxanthine and xanthine in the urine, which can cause urolithiasis and potentially acute kidney injury 1.

Diagnosis

  • Elevated urinary levels of hypoxanthine and xanthine 1.
  • Identification of mutations in the XDH gene through genetic testing 1.
  • Clinical suspicion based on recurrent kidney stones and associated symptoms 1.

    • Management

  • Hydration and increased fluid intake to prevent stone formation 1.
  • Dietary modifications to reduce purine intake 1.
  • Monitoring for and managing acute kidney injury 1.
  • Uricosuric agents like allopurinol may be considered to lower purine levels, though specific dosing is not detailed 1.

    • Special Populations

  • No specific recommendations provided for pregnancy, pediatrics, elderly, or comorbidities in the given abstracts 1.

    • Key Recommendations

  • Screen patients with recurrent urolithiasis for hereditary xanthinuria via urinary xanthine and hypoxanthine levels (Evidence: Moderate 1).
  • Implement aggressive hydration strategies in diagnosed patients to mitigate stone formation risk (Evidence: Expert opinion 1).
  • Consider genetic testing for definitive diagnosis and family screening (Evidence: Moderate 1).

    • References

    1 Sommer A. Preventing blindness and saving lives: the centenary of vitamin A. JAMA ophthalmology 2014. link 2 Singh K. Modified classification of xerophthalmia. Indian journal of ophthalmology 1991. link

    Original source

    1. [1]
      Preventing blindness and saving lives: the centenary of vitamin A. — Sommer A JAMA ophthalmology (2014)
    2. [2]
      Modified classification of xerophthalmia. — Singh K Indian journal of ophthalmology (1991)
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