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Cystinuria: pathogenesis and treatment

K Sakhaee1

  • 1Center on Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center at Dallas 75235-8885, USA.

Mineral and Electrolyte Metabolism
|January 1, 1994
PubMed
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Cystinuria is an inherited disorder causing cystine stones due to excessive cystine excretion. Treatment aims to lower urinary cystine levels below the solubility limit to prevent stone formation.

Area of Science:

  • Nephrology
  • Genetics
  • Metabolic Disorders

Background:

  • Cystinuria is a genetic condition affecting amino acid transport in the kidneys and intestines.
  • It leads to excessive urinary cystine excretion, causing the formation of cystine kidney stones due to low solubility.
  • The prevalence of homozygous cystinuria varies globally, with typical onset in young adulthood.

Purpose of the Study:

  • To summarize the key aspects of cystinuria, including its genetic basis, clinical presentation, diagnosis, and management.
  • To highlight the diagnostic criteria for homozygous cystinuria based on urinary cystine levels.
  • To define the primary therapeutic goal for managing cystine stones.

Main Methods:

  • Review of existing literature on cystinuria.

Related Experiment Videos

  • Analysis of diagnostic markers, specifically urinary cystine excretion.
  • Examination of treatment strategies focused on reducing urinary cystine concentration.

    • Main Results:

    • Urinary cystine excretion above 250 mg/g creatinine is indicative of homozygous cystinuria.
    • Cystine stones are a direct consequence of supersaturation of urine with cystine.
    • Treatment efficacy is measured by the ability to maintain urinary cystine below its solubility limit of 250 mg/l.

    Conclusions:

    • Cystinuria requires lifelong management focused on preventing cystine stone recurrence.
    • Accurate diagnosis relies on quantifying urinary cystine excretion.
    • Therapeutic interventions should aim to decrease urinary cystine concentration to prevent stone formation.