Pediatric Nephrology

, Volume 27, Issue 11, pp 2031–2038

Cystinuria: mechanisms and management

Authors

    • Division of Pediatric Nephrology and HypertensionCincinnati Children’s Hospital Medical Center
  • Elizabeth Jackson
    • Division of Pediatric Nephrology and HypertensionCincinnati Children’s Hospital Medical Center
Review

DOI: 10.1007/s00467-011-2092-6

Cite this article as:
Claes, D.J. & Jackson, E. Pediatr Nephrol (2012) 27: 2031. doi:10.1007/s00467-011-2092-6

Abstract

Cystinuria is a relatively uncommon cause of pediatric stone disease, but has significant morbidity if not properly controlled because of its significant stone recurrence rate. Cystinuria is caused by the inability of the renal tubules to reabsorb filtered cystine, which is poorly soluble at a typical urine pH <7. Although many advances have been made in the understanding of the genetic and physiological basis of cystinuria, the cornerstones of treatment still involve stone prevention with dietary measures and pharmacological therapy, coupled with surgical interventions for stone removal. Pharmacological treatments can carry significant side effects that must be monitored and can limit therapy as well as impede compliance. Most patients will require surgical intervention for stone removal, although compliance with prevention strategies reduces the need for intervention.

Keywords

CystinuriaKidney stonesGeneticStone preventionPharmacologicTherapySurgical therapy

Copyright information

© IPNA 2012