Wilson's disease (WD) is a rare inherited disorder of copper metabolism causing toxic hepatic and neural copper accumulation. Clinical symptoms vary widely, from asymptomatic disease to acute liver failure or chronic liver disease with or without neuropsychiatric symptoms. Continuation of specific medical treatment for WD is recommended during pregnancy, but reports of pregnancy outcomes in WD patients are sparse. In a retrospective, multicenter study, 282 pregnancies in 136 WD patients were reviewed. Age at disease onset, age at conception, and WD‐specific treatments were recorded. Maternal complications during pregnancy, rate of spontaneous abortions, and birth defects were analyzed with respect to medical treatment during pregnancy. Worsening of liver function tests was evident during 16 of 282 (6%) pregnancies and occurred in undiagnosed patients as well as in those under medical treatment. Liver test abnormalities resolved in all cases after delivery. Aggravation of neurological symptoms during pregnancy was rare (1%), but tended to persist after delivery. The overall spontaneous abortion rate in the study cohort was 73 of 282 (26%). Patients with an established diagnosis of WD receiving medical treatment experienced significantly fewer spontaneous abortions than patients with undiagnosed WD (odds ratio, 2.853 [95% confidence interval, 1.634‐4.982]). Birth defects occurred in 7 of 209 (3%) live births. Conclusion: Pregnancy in WD patients on anticopper therapy is safe. The spontaneous abortion rate in treated patients was lower than that in therapy‐naïve patients. Although the teratogenic potential of copper chelators is a concern, the rate of birth defects in our cohort was low. Treatment for WD should be maintained during pregnancy, and patients should be monitored closely for hepatic and neurological symptoms. (Hepatology 2018;67:1261‐1269).

中文翻译：

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威尔逊病妊娠 - 管理和结果

威尔森氏病 (WD) 是一种罕见的铜代谢遗传性疾病，可导致肝脏和神经毒性铜积累。临床症状差异很大，从无症状疾病到急性肝功能衰竭或慢性肝病，有或没有神经精神症状。建议在怀孕期间继续对 WD 进行特定的药物治疗，但关于 WD 患者妊娠结局的报告很少。在一项回顾性多中心研究中，对 136 名 WD 患者的 282 次妊娠进行了审查。记录疾病发病年龄、受孕年龄和 WD 特异性治疗。对妊娠期间的母体并发症、自然流产率和出生缺陷进行了分析，以了解妊娠期间的医疗情况。在 282 次妊娠中的 16 次（6%）妊娠期间肝功能检查明显恶化，并且发生在未确诊患者和正在接受治疗的患者中。肝检查异常在所有情况下在分娩后得到解决。怀孕期间神经系统症状的加重很少见 (1%)，但在分娩后往往会持续存在。研究队列中的总体自然流产率为 282 人中的 73 人（26%）。与未确诊 WD 的患者相比，确诊为 WD 并接受药物治疗的患者自然流产明显减少（优势比，2.853 [95% 置信区间，1.634-4.982]）。209 名活产婴儿中有 7 名 (3%) 出现出生缺陷。结论：接受抗铜治疗的WD患者妊娠是安全的。接受治疗的患者的自然流产率低于未接受治疗的患者。尽管铜螯合剂的致畸潜力令人担忧，但我们队列中的出生缺陷率很低。WD 的治疗应在怀孕期间维持，并应密切监测患者的肝脏和神经系统症状。（肝病学 2018 年；67：1261-1269）。