title: Natural history and quality of life in patients with cystine urolithiasis: a single centre study.
abstract: OBJECTIVE
  To describe the natural history and quality of life (QoL) in patients with cystine urolithiasis.
  
  
  METHODS
  A cohort study was carried out involving participants recruited from a single surgeon's case mix. Patients with cystinuria and related urolithiasis were invited to complete a questionnaire involving demographic information, use of medical treatment, surgical interventions and the 36-item short-form 36-item short-form health survey (SF-36).
  
  
  RESULTS
  In all, 14 patients completed the survey. The SF-36 survey showed lower QoL than the general public in seven of eight domains. The mean interventional rate in patients with cystinuria was 10.6 procedures per patient. Most patients reported previous use of d-penicillamine and urinary alkalinisation medications, with most ceasing due to side-effects or lack of perceived efficacy.
  
  
  CONCLUSIONS
  Cystinuria is associated with a high rate of surgical intervention and lower QoL than the general public. Individuals with this condition report that medical management is either ineffective or poorly tolerated. There is a need for further improvements in medical management of cystinuria, to reduce the rate of operative intervention.
authors.affiliation: School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
authors.forename: Justin M
authors.initials: JM
authors.lastname: Parr
authors.affiliation: School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.|Department of Urology, Mater Hospital Brisbane, Brisbane, Queensland, Australia.
authors.forename: Devang
authors.initials: D
authors.lastname: Desai
authors.affiliation: School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.|Department of Urology, Mater Hospital Brisbane, Brisbane, Queensland, Australia.
authors.forename: David
authors.initials: D
authors.lastname: Winkle
mesh_terms: D000328:Adult; D000368:Aged; D001315:Australia; D002614:Chelating Agents / Q000009:adverse effects / Q000627:therapeutic use; D015331:Cohort Studies; D003553:Cystine / Q000378:metabolism; D003555:Cystinuria / Q000523:psychology* / Q000628:therapy; D005260:Female; D006306:Health Surveys; D006801:Humans; D008297:Male; D008875:Middle Aged; D010396:Penicillamine / Q000009:adverse effects / Q000627:therapeutic use; D011788:Quality of Life / Q000523:psychology*; D011795:Surveys and Questionnaires; D052878:Urolithiasis / Q000523:psychology* / Q000628:therapy; D013520:Urologic Surgical Procedures
chemical_list: D002614:Chelating Agents; D003553:Cystine; D010396:Penicillamine
keywords: cystinuria; d-penicillamine; nephrolithiasis; quality of life