, Volume 44, Issue 1, pp 65–76 | Cite as

How should patients with cystine stone disease be evaluated and treated in the twenty-first century?

  • Kim Hovgaard Andreassen
  • Katja Venborg Pedersen
  • Susanne Sloth Osther
  • Helene Ulrik Jung
  • Søren Kissow Lildal
  • Palle Joern Sloth OstherEmail author
Invited Review


Cystinuria continues to be one of the most challenging stone diseases. During the latest decades our knowledge of the molecular basis of cystinuria has expanded. Today 160 different mutations in the SLC3A1 gene and 116 in the SLC7A9 gene are listed. The full implications of type A, B or AB status are not yet fully understood but may have implications for prognosis, management and treatment. Despite better understanding of the molecular basis of cystinuria the principles of recurrence prevention have remained essentially the same through decades. No curative treatment of cystinuria exists, and patients will have a life long risk of stone formation, repeated surgery, impaired renal function and quality of life. Therapy to reduce stone formation is directed towards lowering urine cystine concentration and increasing cystine solubility. Different molecules that could play a role in promoting nucleation and have a modulating effect on cystine solubility may represent new targets for cystinuria research. Investigation of newer thiol-containing drugs with fewer adverse effects is also warranted. Determining cystine capacity may be an effective tool to monitor the individual patient’s response. Compliance in cystinuric patients concerning both dietary and pharmacological intervention is poor. Frequent clinical follow-up visits in dedicated centres seem to improve compliance. Cystinuric patients should be managed in dedicated centres offering the complete range of minimal invasive treatment modalities, enabling a personalized treatment approach in order to reduce risk and morbidity of multiple procedures.


Cystinuria Kidney stones Nephrolithiasis Urolithiasis Genetic Prevention Pharmacologic therapy Surgical therapy 


Compliance with ethical standards



Conflict of interest

All authors declare that they have no conflict of interest.

Ethical approval

This article does not contain any studies with human participants or animals performed by any of the authors.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Kim Hovgaard Andreassen
    • 1
  • Katja Venborg Pedersen
    • 2
  • Susanne Sloth Osther
    • 1
  • Helene Ulrik Jung
    • 1
  • Søren Kissow Lildal
    • 1
  • Palle Joern Sloth Osther
    • 1
    Email author
  1. 1.Department of Urology, Urological Research CentreLillebaelt Hospital, University of Southern DenmarkFredericiaDenmark
  2. 2.Department of Clinical GeneticsLillebaelt Hospital, University of Southern DenmarkVejleDenmark

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