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一个家族中若有Wilson病(WD)发生,全部直系亲属均需经过筛选,对确定有生化损伤者应给予治疗.20年前Sternlieb等提出这一看法时曾受到批评,但目前已付诸实践.作者对90个至少有1例已证实的WD患者的家族观察32年,对全部直系亲属进行检查,诊断出症状发生前WD30例.本文报告这一研究的结果.30例患者年龄3～26岁,至少有1位亲属患已证实的WD,其中同胞28例(2例为同卵孪生兄弟),表亲1例,父亲1例.诊断方法为已证实的WD患者的“危险”亲属首次就诊时检查肝脏和神经体征、K-F环,测定血清铜和血浆铜蓝蛋白水平.其中一
All of the immediate relatives were screened for treatment of Wilson’s disease (WD) in a family and should be treated for the identification of biochemical damage.20 Sternlieb et al. Have been criticized 20 years ago for their views but are now in practice The authors observed the family history of at least one confirmed WD patient for 32 years and examined all immediate relatives to determine the presence of symptoms before the onset of WD30 cases.This paper reports the results of this study.30 patients aged 3 to 26 Years old, at least one relative has confirmed WD, including siblings in 28 cases (2 cases of identical twins), cousin in 1 case and father in 1. Diagnostic methods for the confirmed WD patients “dangerous ” relatives Liver and neurological signs, KF rings were examined at the first visit and levels of serum copper and ceruloplasmin were measured.