Department of Gastroenterology and Hepatology, University Hospital Heidelberg, Heidelberg, Germany.
Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria.
Hepatology. 2018 Apr;67(4):1261-1269. doi: 10.1002/hep.29490. Epub 2018 Feb 18.
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.
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).
威尔逊病（WD）是一种罕见的遗传性铜代谢紊乱疾病，导致肝脏和神经中铜的毒性蓄积。临床症状差异很大，从无症状疾病到急性肝衰竭或慢性肝病，伴有或不伴有神经精神症状。建议 WD 患者在怀孕期间继续进行特定的医学治疗，但 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 例 WD 患者的 282 例妊娠进行了回顾。记录了疾病发病年龄、受孕年龄和 WD 特异性治疗。分析了怀孕期间的母亲并发症、自然流产率和出生缺陷率与怀孕期间的医疗治疗的关系。在 282 例（6%）妊娠中，有 16 例（6%）出现肝功能检查恶化，这些病例发生在未确诊患者和接受药物治疗的患者中。所有病例在分娩后肝功能检查异常均得到缓解。怀孕期间神经症状恶化很少见（1%），但分娩后往往持续存在。在研究队列中，总的自然流产率为 282 例中的 73 例（26%）。接受医学治疗的已确诊 WD 患者的自然流产率明显低于未确诊 WD 患者（比值比，2.853[95%置信区间，1.634-4.982]）。7 例活产儿出现出生缺陷。
WD 患者在接受抗铜治疗期间怀孕是安全的。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较低。怀孕期间应维持 WD 的治疗，密切监测患者的肝脏和神经症状。（《肝脏病学》2018；67：1261-1269）。
