妊娠合并肝豆状核变性的管理及研究进展

Management and research progress of Wilson disease in pregnancy

肝豆状核变性, 即Wilson病(Wilson disease, WD)是一种常染色体隐性遗传的铜代谢障碍性疾病。目前妊娠合并WD的临床特点、管理及预后等方面具有特殊性且相关报道较少, 是临床医师关注的重难点问题。无论是否接受驱铜治疗, 妊娠合并WD患者可能出现病情进展甚至死亡, 其胎儿也面临着遗传患病、畸形和死亡的风险。现国内外指南均建议妊娠期间应继续服用D青霉胺、锌剂等药物驱铜治疗, 而不推荐母乳喂养。虽然对于WD治疗药物及母乳喂养的安全性亟待进一步评估, 但恰当的驱铜治疗仍利大于弊。大部分WD育龄期女性在接受恰当驱铜治疗及孕前咨询后, 可以成功妊娠并顺利分娩。

Wilson disease(WD)is an autosomal recessive disorder of copper metabolism.The clinical characteristics,management and prognosis of pregnancy in WD are special and less reported,which are the key and difficult problems concerned by clinicians.Regardless of whether they receive treatment or not,pregnant women with WD may have disease progression or even death,and their fetuses are also faced with the risk of genetic disease,malformation and death.Domestic and foreign guidelines suggest that during pregnancy,drugs such as D penicillamine and zinc should continue to be taken to remove copper,however breast-feeding is not recommended now.Although the safety of treatment drugs and breastfeeding in WD needs to be further evaluated,the benefits of appropriate copper removal treatment still outweigh the disadvantages.Most women of childbearing age with WD can successfully conceive and deliver after receiving appropriate copper removal treatment and pre pregnancy consultation.