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Acalculous cystinuria

M L Stoller1, M W McDonald, D L Gentle

  • 1Department of Urology, University of California School of Medicine, San Francisco, USA.

Journal of Endourology
|August 1, 1997
PubMed
Summary
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Elevated urinary cystine levels are common in families with cystinuria, but not all individuals with high cystine develop kidney stones. This suggests acalculous cystinuria may not always lead to stone disease.

Area of Science:

  • Nephrology
  • Urology
  • Medical Genetics

Background:

  • Cystinuria is a genetic disorder characterized by elevated urinary cystine levels.
  • Urinary stone disease is a common complication of cystinuria.
  • The spectrum of cystinuria, including asymptomatic cases, requires further investigation.

Purpose of the Study:

  • To compare quantitative urinary cystine excretion in stone-forming versus non-stone-forming family members.
  • To investigate the prevalence of elevated urinary cystine in relatives of cystinuria patients.
  • To characterize acalculous cystinuria within a family pedigree.

Main Methods:

  • Quantitative urinalysis for cystine excretion (mg/g creatinine/day).
  • Family pedigree analysis of 39 members.

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  • Collection of serum biochemical profiles and medical histories.

    • Main Results:

    • Three stone-forming cystinuric patients had a mean excretion of 496 mg/g creatinine/day.
    • Six non-stone-forming relatives (mean age 50) had a mean excretion of 364 mg/g creatinine/day.
    • Thirty-four family members (39%) had elevated cystine (>150 mg/g creatinine/day) without stones, with a mean age of 44 years.

    Conclusions:

    • Elevated urinary cystine concentrations are prevalent in families with cystinuria, even in individuals without a history of stones.
    • Acalculous cystinuria, characterized by high urinary cystine without stones, is common in this family.
    • High urinary cystine does not invariably lead to the clinical manifestation of urinary stone disease.