title: Urinary copper excretion before and after oral intake of d-penicillamine in parents of patients with Wilson's disease.
abstract: BACKGROUND
  Urinary copper excretion higher than 100 μg/24 h is useful for diagnosing Wilson's disease. d-Penicillamine challenge test may produce higher levels than 1400 μg/24 h, allowing for better diagnostic accuracy. This study investigated whether heterozygotes reach this value and compared copper serum levels, ceruloplasmin, and urinary copper excretion before and after administering d-penicillamine to the parents of Wilson's disease patients.
  
  
  METHODS
  Fifty parents of adult patients were enrolled to obtain copper serum levels and ceruloplasmin along with 24-h urinary copper excretion before and after administering 1g d-penicillamine.
  
  
  RESULTS
  Serum ceruloplasmin and copper levels were significantly lower in fathers than in mothers (mean 21.8×27.8 mg%; 71.4×88.0 μg%; p ≤ 0.001). The mean of basal 24-h urinary copper excretion was higher in fathers (26.2×18.7 μg/24 h, p=0.01), but did not differ between the genders after d-penicillamine (521.7×525.3, range 31.6-1085.1 μg/24h, p=0.8).
  
  
  CONCLUSIONS
  The mean values of serum copper, ceruloplasmin, and basal urinary copper excretion were different between males and females. The current diagnostic threshold of 24-h urinary copper excretion after d-penicillamine was not reached by heterozygotes. The increased urinary copper excretion after d-penicillamine challenge was much higher than fivefold the upper limit of normal urinary copper excretion in the majority of heterozygotes and should not be taken into account when diagnosing Wilson's disease.
authors.affiliation: Department of Gastroenterology of University of Sao Paulo School of Medicine, Brazil.
authors.forename: Jakeliny
authors.initials: J
authors.lastname: Vieira
authors.forename: Pedro Vitoriano
authors.initials: PV
authors.lastname: Oliveira
authors.forename: Yara
authors.initials: Y
authors.lastname: Juliano
authors.forename: Karim Repsold Jorge
authors.initials: KR
authors.lastname: Warde
authors.forename: Marta Mitiko
authors.initials: MM
authors.lastname: Deguti
authors.forename: Egberto Reis
authors.initials: ER
authors.lastname: Barbosa
authors.forename: Flair Jose
authors.initials: FJ
authors.lastname: Carrilho
authors.forename: Eduardo Luiz Rachid
authors.initials: EL
authors.lastname: Cancado
mesh_terms: D002570:Ceruloplasmin / Q000378:metabolism; D002614:Chelating Agents; D003300:Copper / Q000097:blood / Q000652:urine*; D005260:Female; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000652:urine*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010396:Penicillamine; D012737:Sex Factors
chemical_list: D002614:Chelating Agents; D003300:Copper; D002570:Ceruloplasmin; D010396:Penicillamine