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Cystinuria—a urologist's perspective

Nature Reviews Urology volume 11, pages 270–277 (2014)Cite this article

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Key Points

  • Urologists should maintain a high level of suspicion of cystinuria in young patients (<30 years old) who have recurrent stone disease or siblings with stone disease

  • Patients with cystinuria require meticulous follow-up monitoring and a multidisciplinary approach to diagnosis, prevention and management

  • Success in patients making dietary changes to prevent stone episodes in cystinuria is possible contrary to prior evidence

  • A pre-emptive surgical approach to cystine stones is recommended, treating smaller stones with minimally invasive techniques before they grow to a size that might make them difficult to manage

  • Current research is focused on methods of monitoring disease activity and novel drug therapies

  • The future of research is collaboration at a national and international level, such as the Rare Kidney Stone Consortium and the UK Registry of Rare Kidney Diseases

Abstract

Cystinuria is a genetic disease that leads to frequent formation of stones. In patients with recurrent stone formation, particularly patients <30 years old or those who have siblings with stone disease, urologists should maintain a high index of suspicion of the diagnosis of cystinuria. Patients with cystinuria require frequent follow-up and a multidisciplinary approach to diagnosis, prevention and management. Patients have reported success in preventing stone episodes by maintaining dietary changes using a tailored review from a specialist dietician. For patients who do not respond to conservative lifestyle measures, medical therapy to alkalinize urine and thiol-binding drugs can help. A pre-emptive approach to the surgical management of cystine stones is recommended by treating smaller stones with minimally invasive techniques before they enlarge to a size that makes management difficult. However, a multimodal approach can be required for larger complex stones. Current cystinuria research is focused on methods of monitoring disease activity, novel drug therapies and genotype–phenotype studies. The future of research is collaboration at a national and international level, facilitated by groups such as the Rare Kidney Stone Consortium and the UK Registry of Rare Kidney Diseases.

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Figure 1: The first cystine stone described by Wollaston in 1810.1
Figure 2: Age of presentation of first stone.
Figure 3: eGFR of our cystinuria cohort.
Figure 4

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Acknowledgements

The authors would like to thank Rachael Mein (Clinical Scientist, DNA Laboratory, Guy's and St Thomas' NHS Foundation Trust London, UK) for her contribution to our work towards understanding the genetic mutations in our UK cystinuria cohort.

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  1. The Urology Centre, Guy's and St Thomas' NHS Foundation Trust London, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK

    Kay Thomas, Kathie Wong, John Withington, Matthew Bultitude & Angela Doherty

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Thomas, K., Wong, K., Withington, J. et al. Cystinuria—a urologist's perspective. Nat Rev Urol 11, 270–277 (2014). https://doi.org/10.1038/nrurol.2014.51

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