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2,8-Dihydroxyadenine lithiasis.

H A Simmonds

    Clinica Chimica Acta; International Journal of Clinical Chemistry
    |October 31, 1986
    PubMed
    Summary
    This summary is machine-generated.

    2,8-Dihydroxyadenine lithiasis, a kidney stone mimicking uric acid, stems from adenine phosphoribosyltransferase (APRT) deficiency. Early diagnosis and allopurinol can prevent severe kidney damage.

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    Area of Science:

    • Nephrology
    • Biochemistry
    • Genetics

    Background:

    • 2,8-Dihydroxyadenine (2,8-DHA) lithiasis is a rare kidney stone condition.
    • It is often misdiagnosed as uric acid stones due to similar test results.

    Purpose of the Study:

    • To highlight the biochemical basis and clinical presentation of 2,8-DHA lithiasis.
    • To emphasize the importance of accurate diagnosis and preventative treatment.

    Main Methods:

    • Analysis of stone composition and patient biochemical data.
    • Identification of adenine phosphoribosyltransferase (APRT) enzyme deficiency.

    Main Results:

    • 2,8-DHA stones are distinct from uric acid stones (crush easily, negative uricase test).

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  • Complete APRT deficiency identified in 29 patients globally; heterozygotes also identified.
  • 20% of affected individuals were asymptomatic, while an equal percentage presented with acute renal failure.

    • Conclusions:

    • Accurate diagnosis of 2,8-DHA lithiasis is crucial for preventing nephrotoxicity.
    • Allopurinol can effectively prevent 2,8-DHA stone formation.
    • Improved diagnostic strategies are needed, especially in countries with fewer reported cases.