title: CKD and Its Risk Factors among Patients with Cystinuria.
abstract: OBJECTIVE
  Cystinuria is an autosomal recessive disorder affecting renal cystine reabsorption; it causes 1% and 8% of stones in adults and children, respectively. This study aimed to determine epidemiologic and clinical characteristics as well as comorbidities among cystinuric patients, focusing on CKD and high BP.
  
  
  METHODS
  This retrospective study was conducted in France, and involved 47 adult and pediatric nephrology and urology centers from April 2010 to January 2012. Data were collected from 442 cystinuric patients.
  
  
  RESULTS
  Median age at onset of symptoms was 16.7 (minimum to maximum, 0.3-72.1) years and median diagnosis delay was 1.3 (0-45.7) years. Urinary alkalinization and cystine-binding thiol were prescribed for 88.8% and 52.2% of patients, respectively, and 81.8% had at least one urological procedure. Five patients (1.1%, n=4 men) had to be treated by dialysis at a median age of 35.0 years (11.8-70.7). Among the 314 patients aged ≥16 years, using the last available plasma creatinine, 22.5% had an eGFR≥90 ml/min per 1.73 m(2) (calculated by the Modification of Diet in Renal Disease equation), whereas 50.6%, 15.6%, 7.6%, 2.9%, and 0.6% had an eGFR of 60-89, 45-59, 30-44, 15-29, and <15, respectively. Among these 314 patients, 28.6% had high BP. In multivariate analysis, CKD was associated with age (odds ratio, 1.05 [95% confidence interval, 1.03 to 1.07]; P<0.001), hypertension (3.30 [1.54 to 7.10]; P=0.002), and severe damage of renal parenchyma defined as a past history of partial or total nephrectomy, a solitary congenital kidney, or at least one kidney with a size <10 cm in patients aged ≥16 years (4.39 [2.00 to 9.62]; P<0.001), whereas hypertension was associated with age (1.06 [1.04 to 1.08]; P<0.001), male sex (2.3 [1.3 to 4.1]; P=0.003), and an eGFR<60 ml/min per 1.73 m(2) (2.7 [1.5 to 5.1]; P=0.001).
  
  
  CONCLUSIONS
  CKD and high BP occur frequently in patients with cystinuria and should be routinely screened.
authors.affiliation: Due to the number of contributing authors,the affiliations are provided in the Supplemental Material.
authors.forename: Caroline
authors.initials: C
authors.lastname: Prot-Bertoye
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authors.forename: Saïd
authors.initials: S
authors.lastname: Lebbah
authors.affiliation: Due to the number of contributing authors,the affiliations are provided in the Supplemental Material.
authors.forename: Michel
authors.initials: M
authors.lastname: Daudon
authors.affiliation: Due to the number of contributing authors,the affiliations are provided in the Supplemental Material.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Tostivint
authors.affiliation: Due to the number of contributing authors,the affiliations are provided in the Supplemental Material.
authors.forename: Pierre
authors.initials: P
authors.lastname: Bataille
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authors.forename: Franck
authors.initials: F
authors.lastname: Bridoux
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authors.forename: Pierre
authors.initials: P
authors.lastname: Brignon
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authors.forename: Christian
authors.initials: C
authors.lastname: Choquenet
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authors.forename: Pierre
authors.initials: P
authors.lastname: Cochat
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authors.forename: Christian
authors.initials: C
authors.lastname: Combe
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authors.forename: Pierre
authors.initials: P
authors.lastname: Conort
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authors.forename: Stéphane
authors.initials: S
authors.lastname: Decramer
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authors.forename: Bertrand
authors.initials: B
authors.lastname: Doré
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authors.forename: Bertrand
authors.initials: B
authors.lastname: Dussol
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authors.forename: Marie
authors.initials: M
authors.lastname: Essig
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authors.forename: Nicolas
authors.initials: N
authors.lastname: Gaunez
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authors.forename: Dominique
authors.initials: D
authors.lastname: Joly
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authors.forename: Sophie
authors.initials: S
authors.lastname: Le Toquin-Bernard
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authors.forename: Arnaud
authors.initials: A
authors.lastname: Méjean
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authors.forename: Paul
authors.initials: P
authors.lastname: Meria
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authors.forename: Denis
authors.initials: D
authors.lastname: Morin
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authors.forename: Hung Viet
authors.initials: HV
authors.lastname: N'Guyen
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authors.forename: Christian
authors.initials: C
authors.lastname: Noël
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authors.forename: Michel
authors.initials: M
authors.lastname: Normand
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authors.forename: Michel
authors.initials: M
authors.lastname: Pietak
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authors.forename: Pierre
authors.initials: P
authors.lastname: Ronco
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authors.forename: Christian
authors.initials: C
authors.lastname: Saussine
authors.affiliation: Due to the number of contributing authors,the affiliations are provided in the Supplemental Material.
authors.forename: Michel
authors.initials: M
authors.lastname: Tsimaratos
authors.affiliation: Due to the number of contributing authors,the affiliations are provided in the Supplemental Material.
authors.forename: Gérard
authors.initials: G
authors.lastname: Friedlander
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authors.forename: Olivier
authors.initials: O
authors.lastname: Traxer
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authors.forename: Bertrand
authors.initials: B
authors.lastname: Knebelmann
authors.affiliation: Due to the number of contributing authors,the affiliations are provided in the Supplemental Material. marie.courbebaisse@egp.aphp.fr.
authors.forename: Marie
authors.initials: M
authors.lastname: Courbebaisse
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D003555:Cystinuria / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D057210:Delayed Diagnosis; D005260:Female; D005602:France / Q000453:epidemiology; D005919:Glomerular Filtration Rate; D006801:Humans; D006973:Hypertension / Q000453:epidemiology*; D007223:Infant; D008297:Male; D008875:Middle Aged; D009392:Nephrectomy; D015995:Prevalence; D051436:Renal Insufficiency, Chronic / Q000453:epidemiology* / Q000473:pathology / Q000503:physiopathology; D012189:Retrospective Studies; D012307:Risk Factors; D012737:Sex Factors; D055815:Young Adult
keywords: CKD; genetic renal disease; hypertension; kidney stones