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2,8-Dihydroxyadeninuria: laboratory diagnosis and therapy control
A Hesse1, W D Miersch, A Classen
1Experimentelle Urologie, Urologische Universitätsklinik, Bonn, BRD.
Urologia Internationalis
|January 1, 1988
Summary
Detecting adenine phosphoribosyltransferase (APRT) deficiency early through urinary crystals aids in managing 2,8-dihydroxyadenine (2,8-DHA) stones. A new HPLC method monitors 2,8-DHA excretion and allopurinol therapy effectiveness.
Area of Science:
- Biochemistry
- Nephrology
- Genetics
Background:
- Adenine phosphoribosyltransferase (APRT) deficiency is a rare genetic disorder.
- It leads to the accumulation of 2,8-dihydroxyadenine (2,8-DHA), causing kidney stone formation.
- Early diagnosis and monitoring are crucial for effective management.
Observation:
- Two patients with 2,8-DHA stones due to APRT deficiency were studied.
- Crystalline urinary sediment was identified as an early indicator of stone risk.
- Infrared spectroscopy confirmed the presence of 2,8-DHA crystals.
Findings:
- A novel high-performance liquid chromatography (HPLC) method was developed to quantify 2,8-DHA excretion.
- This method allows for the determination of 2,8-DHA's circadian rhythm.
- APRT enzyme activity assays help quantify deficiency and trace hereditary patterns.
Implications:
- The HPLC method provides a reliable tool for diagnosing APRT deficiency.
- It enables effective monitoring of treatment efficacy, particularly with allopurinol.
- This facilitates early intervention and improved patient outcomes for 2,8-DHA stone formers.