title: 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.affiliation: The Urology Centre, Guy's and St Thomas' NHS Foundation Trust London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
authors.forename: Kay
authors.initials: K
authors.lastname: Thomas
authors.affiliation: The Urology Centre, Guy's and St Thomas' NHS Foundation Trust London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
authors.forename: Kathie
authors.initials: K
authors.lastname: Wong
authors.affiliation: The Urology Centre, Guy's and St Thomas' NHS Foundation Trust London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
authors.forename: John
authors.initials: J
authors.lastname: Withington
authors.affiliation: The Urology Centre, Guy's and St Thomas' NHS Foundation Trust London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
authors.forename: Matthew
authors.initials: M
authors.lastname: Bultitude
authors.affiliation: The Urology Centre, Guy's and St Thomas' NHS Foundation Trust London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
authors.forename: Angela
authors.initials: A
authors.lastname: Doherty
mesh_terms: D003131:Combined Modality Therapy; D003555:Cystinuria / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005819:Genetic Markers; D006801:Humans; D007669:Kidney Calculi / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D055502:Secondary Prevention
chemical_list: D005819:Genetic Markers