Cystinuria-a urologist's perspective

TY - JOUR

T1 - Cystinuria-a urologist's perspective

AU - Thomas, Kay

AU - Wong, Kathie

AU - Withington, John

AU - Bultitude, Matthew

AU - Doherty, Angela

PY - 2014/5

Y1 - 2014/5

N2 - 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.

AB - 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.

KW - SHOCK-WAVE LITHOTRIPSY

KW - URINARY CYSTINE

KW - SLC7A9 GENE

KW - PERCUTANEOUS NEPHROLITHOTOMY

KW - INTESTINAL TRANSPORT

KW - DIGENIC INHERITANCE

KW - STONE COMPOSITION

KW - SOLITARY KIDNEYS

KW - RENAL-FUNCTION

KW - MORNING URINE

U2 - 10.1038/nrurol.2014.51

DO - 10.1038/nrurol.2014.51

M3 - Literature review

SN - 1759-4812

VL - 11

SP - 270

EP - 277

JO - Nature Reviews Urology

JF - Nature Reviews Urology

IS - 5

ER -