Reuner Ulrike, Dinger Juergen
Clinic of Neurology, Faculty of Medicine Carl Gustav Carus, Technical University of Dresden, Dresden, Germany.
Department of Neonatology and Paediatric Intensive Care, Faculty of Medicine Carl Gustav Carus, Technical University of Dresden, Dresden, Germany.
Ann Transl Med. 2019 Apr;7(Suppl 2):S56. doi: 10.21037/atm.2019.04.40.
Wilson disease is an autosomal recessive genetic disorder affecting copper transport leading to hepatic and/or neuropsychiatric manifestation. Untreated Wilson disease in females may cause sub fertility or spontaneous miscarriage. Although the literature shows an increasing number of successful outcomes after treatment, pregnant patients with Wilson disease still need close monitoring and interdisciplinary management.
In a retrospective study patient charts of 32 pregnancies in 22 women with Wilson disease were reviewed retrospectively for the initial clinical manifestation, medical treatment prior and during pregnancy, maternal and fetal course and outcome.
A total of 32 pregnancies in 22 patients were analyzed. The majority of our patients did not have any deterioration of symptoms of Wilson disease prior to and during pregnancy. One pregnant patient decided to stop her anticopper medications while pregnant with fatal outcome for both, mother and foetus. None of our newborns showed major birth defects or side effects in this cohort after maternal chelation treatment.
Reproductive status and pregnancies of women with Wilson disease may be problematic. Pregnant women need close monitoring and multidisciplinary management. Anticopper therapy during pregnancy and breast feeding are safe. Treatment should be maintained during pregnancy and the pregnant women should be treated by a multi-disciplinary team. With adequate medical treatment and close monitoring before and during pregnancy, a successful outcome of mother and newborn can be achieved.
威尔逊病是一种常染色体隐性遗传病，影响铜的转运，导致肝脏和/或神经精神症状。未治疗的女性威尔逊病患者可能会出现生育力低下或自然流产。尽管文献显示治疗后成功案例越来越多，但威尔逊病孕妇仍需密切监测和多学科管理。
在一项回顾性研究中，对22例患有威尔逊病的女性的32次妊娠患者病历进行回顾，分析其初始临床表现、妊娠前及妊娠期间的治疗、母婴病程及结局。
共分析了22例患者的32次妊娠。大多数患者在妊娠前及妊娠期间威尔逊病症状未出现任何恶化。一名孕妇在孕期决定停用抗铜药物，导致母亲和胎儿均死亡。在该队列中，经母亲螯合治疗后，新生儿均未出现重大出生缺陷或副作用。
威尔逊病女性的生殖状况和妊娠可能存在问题。孕妇需要密切监测和多学科管理。孕期及哺乳期进行抗铜治疗是安全的。孕期应持续治疗，孕妇应由多学科团队进行治疗。通过孕期前后充分的医疗治疗和密切监测，可实现母亲和新生儿的良好结局。
