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[Cystinuria therapy by ascorbic acid (author's transl)]

R Asper, O Schmucki

    Urologia Internationalis
    |January 1, 1982
    PubMed
    Summary
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    Cystinuria, a genetic disorder affecting 1 in 10,000, causes high cystine excretion. Vitamin C therapy significantly reduces cystine levels by 40% with no observed side effects, offering a promising treatment for cystine lithiasis.

    Area of Science:

    • Nephrology
    • Medical Genetics
    • Biochemistry

    Context:

    • Cystinuria is a rare inherited metabolic disorder.
    • It is characterized by defective amino acid transport in the kidneys and intestines.
    • This leads to elevated urinary excretion of cystine and dibasic amino acids, causing cystine stones.

    Purpose:

    • To summarize current knowledge on cystinuria phenomena, analysis, pathophysiology, and therapy.
    • To introduce a novel therapeutic approach using vitamin C (ascorbic acid).
    • To evaluate the efficacy and safety of vitamin C in treating cystinuria.

    Summary:

    • Cystinuria affects approximately 1 in 10,000 individuals, with cystine lithiasis in 90% of cases.
    • Conventional therapies like D-penicillamine have significant side effects.

    Related Experiment Videos

  • A new HPLC method simultaneously analyzes cystine and cysteine, revealing a shifted redox equilibrium in cystinuria.
  • Vitamin C therapy (5g/day) reduced urinary cystine by ~40% in 31 patients without adverse effects.

    • Impact:

    • Vitamin C therapy presents a safe and effective alternative for managing cystinuria.
    • Reduced cystine levels may decrease the incidence of painful cystine stones.
    • This approach offers a significant improvement over existing treatments with fewer side effects.