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[Cystinuria and urolithiasis]

G Katz1, E Pras, E H Landau

  • 1Urology Dept. Hadassah Medical Center, Jerusalem.

Harefuah
|July 1, 1995
PubMed
Summary
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Cystinuria, a hereditary metabolic disorder, causes early and large urinary stones. Early detection and family screening are crucial to prevent kidney damage and reduce surgical interventions.

Area of Science:

  • Nephrology
  • Metabolic Disorders
  • Urology

Context:

  • Cystinuria is a hereditary metabolic disorder characterized by urinary lithiasis.
  • Patients present with early-onset (average 17 years) and large kidney stones compared to other stone types.
  • Complications include obstructive nephropathy and kidney function deterioration due to recurrent stone formation and multiple surgeries.

Purpose:

  • To analyze the clinical course and outcomes of patients with cystine urolithiasis.
  • To emphasize the importance of early diagnosis and family screening for cystinuria.
  • To highlight the challenges in managing cystine urolithiasis and preventing complications.

Summary:

  • A decade-long study followed 51 patients from 39 families with cystine urolithiasis.

Related Experiment Videos

  • Diagnosis was delayed by an average of 2 years; 56% had affected family members identified through screening.
  • Significant kidney damage occurred, with 12 kidneys removed and 7 showing function deterioration, despite an average of 5.8 surgical interventions per patient.

    • Impact:

    • Early detection of cystinuria through family screening is vital for timely intervention.
    • Prompt diagnosis allows for less invasive treatments like extra-corporeal shock wave lithotripsy (ESWL).
    • Adherence to high fluid intake, medical therapy (penicillamine or tiopronin), and urinary alkalinization is essential for managing cystinuria and preventing stone recurrence.