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Relative exchangeable copper: A promising tool for family screening in Wilson disease
Author(s) -
Trocello JeanMarc,
Balkhi Souleiman,
Woimant France,
GirardotTinant Nadège,
Chappuis Philippe,
Lloyd Carla,
Poupon Joël
Publication year - 2014
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.25763
Subject(s) - wilson's disease , disease , copper , cutoff , medicine , degenerative disease , gastroenterology , psychiatry , chemistry , physics , organic chemistry , quantum mechanics
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. © 2013 International Parkinson and Movement Disorder Society