title: Relative exchangeable copper: a promising tool for family screening in Wilson disease.
abstract: BACKGROUND
  Family screening is a main step for the diagnosis in Wilson disease. This study was undertaken to evaluate the value of relative exchangeable copper for family screening.
  
  
  METHODS
  Data from family screening were collected from the French National Center of Reference for Wilson disease. Subjects who were first- or second-degree relatives of the index case underwent clinical examination and biological parameters.
  
  
  RESULTS
  Of 127 subjects examined, copper abnormalities or low ceruloplasminemia were detected in 21 subjects, corresponding to 5 patients with Wilson disease, 14 heterozygous ATP7B carriers and 2 subjects with no ATP7B mutations. Relative exchangeable copper determination significantly discriminates heterozygous ATP7B carriers and subjects with no ATP7B mutations from WD patients with a cutoff of 15%.
  
  
  CONCLUSIONS
  Exchangeable copper appears to be a promising tool for family screening in Wilson disease.
authors.affiliation: Centre national de référence pour la maladie de Wilson, AP-HP, Hôpital Lariboisière, Paris, France.
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Trocello
authors.forename: Souleiman
authors.initials: S
authors.lastname: El Balkhi
authors.forename: France
authors.initials: F
authors.lastname: Woimant
authors.forename: Nadège
authors.initials: N
authors.lastname: Girardot-Tinant
authors.forename: Philippe
authors.initials: P
authors.lastname: Chappuis
authors.forename: Carla
authors.initials: C
authors.lastname: Lloyd
authors.forename: Joël
authors.initials: J
authors.lastname: Poupon
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000293:Adolescent; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000097:blood*; D000073840:Copper-Transporting ATPases; D005260:Female; D006527:Hepatolenticular Degeneration / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D055815:Young Adult
chemical_list: D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases
keywords: ATP7B; Wilson disease; family screening; relative exchangeable copper