Piussan C, Mathieu M
J Genet Hum. 1985 Sep;33(3-4):357-62.
Untreated Wilson's disease usually causes infertility or abortion, as a result of increased intrauterine copper level. Therefore, a chelation treatment is necessary during the whole pregnancy. The most used is D-Penicillamine whose teratogenic risks such as cutis laxa, dermatopathy or complex mesenchyme abnormalities are paradoxically rare in the new borns of treated Wilson's disease mothers, perhaps owing to hypercupremia that protects the foetus from excessive copper deficiency. Yet, it's wise to reduce chelation treatment about a quarter fold and to add 50 mg vitamin B6 weekly as we did in our case whose child was born normal.
未经治疗的威尔逊氏病通常会导致不孕或流产，这是由于子宫内铜水平升高所致。因此，在整个孕期都需要进行螯合治疗。最常用的是D-青霉胺，在接受治疗的威尔逊氏病母亲所生的新生儿中，其致畸风险如皮肤松弛、皮肤病或复杂间叶组织异常反而罕见，这可能是由于高铜血症保护胎儿免于过度缺铜。然而，明智的做法是将螯合治疗减少约四分之一，并每周添加50毫克维生素B6，就像我们的病例一样，其孩子出生时正常。
