Cystinuria-a urologist's perspective.

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.

• Authors: Kay Thomas, Kathie Wong, John Withington, Matthew Bultitude, Angela Doherty
• Journal: Nature reviews. Urology (Nat Rev Urol) Vol. 11 Issue 5 Pg. 270-7 (May 2014) ISSN: 1759-4820 [Electronic] England
• PMID: 24662732 (Publication Type: Journal Article, Review)

Chemical References

• Genetic Markers

Topics

• Combined Modality Therapy
• Cystinuria (diagnosis, genetics, therapy)
• Genetic Markers
• Humans
• Kidney Calculi (diagnosis, genetics, therapy)
• Secondary Prevention