Trocello Jean-Marc, El Balkhi Souleiman, Woimant France, Girardot-Tinant Nadège, Chappuis Philippe, Lloyd Carla, Poupon Joël
Centre national de référence pour la maladie de Wilson, AP-HP, Hôpital Lariboisière, Paris, France.
Mov Disord. 2014 Apr;29(4):558-62. doi: 10.1002/mds.25763. Epub 2013 Dec 27.
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.
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.
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%.
Exchangeable copper appears to be a promising tool for family screening in Wilson disease.
家族筛查是肝豆状核变性诊断的主要步骤。本研究旨在评估相对可交换铜在家族筛查中的价值。
从法国国家肝豆状核变性参考中心收集家族筛查数据。对索引病例的一级或二级亲属进行临床检查和生物学参数检测。
在127名接受检查的受试者中，21名受试者检测到铜异常或低铜蓝蛋白血症，其中5例为肝豆状核变性患者，14例为ATP7B杂合子携带者，2例无ATP7B突变。相对可交换铜测定以15%为临界值，可显著区分ATP7B杂合子携带者和无ATP7B突变的受试者与肝豆状核变性患者。
可交换铜似乎是肝豆状核变性家族筛查的一种有前景的工具。
