Pediatric Nephrology

, Volume 13, Issue 9, pp 945–950 | Cite as

Treatment of cystinuria

  • Dominique Joly
  • Philippe Rieu
  • Arnaud Méjean
  • Marie-France Gagnadoux
  • Michel Daudon
  • P. Jungers
Practical Pediatric Nephrology

Abstract 

Cystine urolithiasis is the only clinical expression of cystinuria, an autosomal recessive genetic defect of the transepithelial transport of cystine and other dibasic amino acids in the kidney. Stones form due to the increased excretion of cystine, which is poorly soluble at normal urine pH. Cystine stones are often resistent to extracorporeal shock wave lithotripsy, so that percutaneous surgery or ureteroscopy are the preferred techniques of stone extraction. Medical preventative treatment is based on high diuresis (≥1.5 l/m2 per day) well distributed throughout the day and night, and urine alkalinization up to pH 7.5 by means of sodium bicarbonate and/or potassium citrate. When these basal measures are ineffective at preventing stone recurrence or dissolving pre-existing stones, sulfhydryl agents such as D-penicillamine or tiopronin, which form highly soluble mixed disulfides with cystine moieties, are to be added to urine dilution and alkalinization, especially when cystine excretion is in excess of 750 mg/day (3 mmol/day). Frequent clinical and ultrasound follow-up is needed to encourage patient compliance and assess efficacy and tolerance of treatment.

Key words Cystine urolithiasis Cystinuria D-Penicillamine Tiopronin 

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Copyright information

© IPNA - International Pediatric Nephrology Association New York, USA 1999

Authors and Affiliations

  • Dominique Joly
    • 1
  • Philippe Rieu
    • 5
  • Arnaud Méjean
    • 3
  • Marie-France Gagnadoux
    • 2
  • Michel Daudon
    • 4
  • P. Jungers
    • 1
  1. 1.Department of Nephrology, Hôpital Necker-Enfants Malades, 149, rue de Sèvres, F-75015 Paris, France e-mail:paul.jungers@nck.ap-hop-paris.fr Tel.: +33-1-4449-5412, Fax: +1-33-1-4449-5450FR
  2. 2.Department of Pediatric Nephrology, Hôpital Necker-Enfants Malades, Paris, FranceFR
  3. 3.Department of Urology, Hôpital Necker-Enfants Malades, Paris, FranceFR
  4. 4.Department of Biochemistry, Hôpital Necker-Enfants Malades, Paris, FranceFR
  5. 5.INSERM U 507, Hôpital Necker-Enfants Malades, Paris, FranceFR

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