Cystinuria: mechanisms and management

Pediatr Nephrol. 2012 Nov;27(11):2031-2038. doi: 10.1007/s00467-011-2092-6. Epub 2012 Jan 27.

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.

Publication types

  • Review

MeSH terms

  • Absorption
  • Animals
  • Cystine / chemistry
  • Cystine / metabolism*
  • Cystinuria / diagnosis
  • Cystinuria / etiology*
  • Cystinuria / genetics
  • Cystinuria / physiopathology
  • Cystinuria / therapy*
  • Cystinuria / urine
  • Diet, Protein-Restricted
  • Diet, Sodium-Restricted
  • Genetic Predisposition to Disease
  • Humans
  • Hydrogen-Ion Concentration
  • Kidney Tubules / metabolism*
  • Kidney Tubules / physiopathology
  • Nephrolithiasis / diagnosis
  • Nephrolithiasis / etiology*
  • Nephrolithiasis / genetics
  • Nephrolithiasis / physiopathology
  • Nephrolithiasis / therapy*
  • Nephrolithiasis / urine
  • Patient Compliance
  • Phenotype
  • Potassium Citrate / therapeutic use
  • Sodium Bicarbonate / therapeutic use
  • Solubility
  • Sulfhydryl Compounds / therapeutic use
  • Treatment Outcome
  • Urologic Surgical Procedures

Substances

  • Sulfhydryl Compounds
  • Cystine
  • Sodium Bicarbonate
  • Potassium Citrate