Cystinuria-a urologist's perspective.

[cystinuria]

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 .