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Cystinuria.

R D Feld1

  • 1Department of Pathology, University of Iowa Hospitals, Iowa City.

Critical Reviews in Clinical Laboratory Sciences
|January 1, 1988
PubMed
Summary
This summary is machine-generated.

Cystinuria is a common inherited metabolic disease causing kidney stones due to defective amino acid transport. Diagnosis involves detecting high urinary cystine levels in homozygotes.

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Area of Science:

  • Nephrology
  • Metabolic Disorders
  • Genetics

Background:

  • Cystinuria is an inherited metabolic disease affecting 1 in 7000 individuals, leading to kidney stone formation.
  • The underlying defect involves a carrier protein crucial for transporting cystine and dibasic amino acids in epithelial cells.
  • Cystine stones constitute 1-2% of all renal calculi due to cystine's poor solubility in acidic urine.

Purpose of the Study:

  • To summarize the key aspects of cystinuria, including its genetic basis, biochemical defect, and clinical presentation.
  • To highlight diagnostic methods for identifying individuals with cystinuria.
  • To outline current treatment strategies for managing cystine kidney stones.

Main Methods:

  • Review of existing literature on cystinuria.

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  • Biochemical analysis of amino acid transport defects.
  • Clinical observation of renal stone formation and patient outcomes.

    • Main Results:

    • Homozygous individuals exhibit elevated urinary cystine concentrations, aiding in diagnosis.
    • Cystine precipitation in acidic urine is the primary cause of renal calculi in cystinuria patients.
    • Treatment involves medical management to increase cystine solubility and reduce stone formation.

    Conclusions:

    • Cystinuria is a significant genetic disorder characterized by recurrent kidney stone formation.
    • Early detection and appropriate management are crucial for preventing complications associated with cystine stones.
    • Therapeutic approaches focus on increasing urinary cystine solubility through medication and lifestyle modifications.