title: How should patients with cystine stone disease be evaluated and treated in the twenty-first century?
abstract: Cystinuria continues to be one of the most challenging stone diseases. During the latest decades our knowledge of the molecular basis of cystinuria has expanded. Today 160 different mutations in the SLC3A1 gene and 116 in the SLC7A9 gene are listed. The full implications of type A, B or AB status are not yet fully understood but may have implications for prognosis, management and treatment. Despite better understanding of the molecular basis of cystinuria the principles of recurrence prevention have remained essentially the same through decades. No curative treatment of cystinuria exists, and patients will have a life long risk of stone formation, repeated surgery, impaired renal function and quality of life. Therapy to reduce stone formation is directed towards lowering urine cystine concentration and increasing cystine solubility. Different molecules that could play a role in promoting nucleation and have a modulating effect on cystine solubility may represent new targets for cystinuria research. Investigation of newer thiol-containing drugs with fewer adverse effects is also warranted. Determining cystine capacity may be an effective tool to monitor the individual patient's response. Compliance in cystinuric patients concerning both dietary and pharmacological intervention is poor. Frequent clinical follow-up visits in dedicated centres seem to improve compliance. Cystinuric patients should be managed in dedicated centres offering the complete range of minimal invasive treatment modalities, enabling a personalized treatment approach in order to reduce risk and morbidity of multiple procedures.
authors.affiliation: Department of Urology, Urological Research Centre, Lillebaelt Hospital, University of Southern Denmark, Fredericia, Denmark.
authors.forename: Kim Hovgaard
authors.initials: KH
authors.lastname: Andreassen
authors.affiliation: Department of Clinical Genetics, Lillebaelt Hospital, University of Southern Denmark, Vejle, Denmark.
authors.forename: Katja Venborg
authors.initials: KV
authors.lastname: Pedersen
authors.affiliation: Department of Urology, Urological Research Centre, Lillebaelt Hospital, University of Southern Denmark, Fredericia, Denmark.
authors.forename: Susanne Sloth
authors.initials: SS
authors.lastname: Osther
authors.affiliation: Department of Urology, Urological Research Centre, Lillebaelt Hospital, University of Southern Denmark, Fredericia, Denmark.
authors.forename: Helene Ulrik
authors.initials: HU
authors.lastname: Jung
authors.affiliation: Department of Urology, Urological Research Centre, Lillebaelt Hospital, University of Southern Denmark, Fredericia, Denmark.
authors.forename: Søren Kissow
authors.initials: SK
authors.lastname: Lildal
authors.affiliation: Department of Urology, Urological Research Centre, Lillebaelt Hospital, University of Southern Denmark, Fredericia, Denmark. palle.joern.osther@rsyd.dk.
authors.forename: Palle Joern Sloth
authors.initials: PJ
authors.lastname: Osther
mesh_terms: D003553:Cystine / Q000378:metabolism*; D003555:Cystinuria / Q000235:genetics; D004032:Diet; D005838:Genotype; D006801:Humans; D007669:Kidney Calculi / Q000517:prevention & control / Q000628:therapy*; D008096:Lithotripsy; D010349:Patient Compliance; D010641:Phenotype
chemical_list: D003553:Cystine
keywords: Cystinuria; Genetic; Kidney stones; Nephrolithiasis; Pharmacologic therapy; Prevention; Surgical therapy; Urolithiasis