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Cystinuria-a urologist's perspective

Research output: Contribution to journalLiterature reviewpeer-review

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

Original languageEnglish
Pages (from-to)270-277
Number of pages8
JournalNature Reviews Urology
Volume11
Issue number5
DOIs
PublishedMay 2014

King's Authors

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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