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一名有症状的韩国威尔逊病患者成功妊娠结局。

Successful pregnancy outcome in a Korean patient with symptomatic Wilson's disease.

作者信息

Lee Hyun Joo, Seong Won Joon, Hong Seong Yeon, Bae Jin Young

机构信息

Department of Obstetrics and Gynecology, Catholic University of Daegu School of Medicine, Daegu, Korea.

Department of Obstetrics and Gynecology, Kyungpook National University Hospital, Daegu, Korea.

出版信息

Obstet Gynecol Sci. 2015 Sep;58(5):409-13. doi: 10.5468/ogs.2015.58.5.409. Epub 2015 Sep 22.

DOI:10.5468/ogs.2015.58.5.409
PMID:26430668
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4588848/
Abstract

Wilson's disease is an inherited disease of copper metabolism leading to the toxic accumulation of copper, primarily in the liver and brain. Although the literature shows successful outcomes after proper treatment, pregnant patients with Wilson's disease still need close monitoring and management. Here, we report the case of a successful pregnancy in a Korean woman with Wilson's disease. A 33-year-old primigravid patient with Wilson's disease visited our antenatal clinic. Of her own volition, she had stopped her medication 2 years earlier. Oral zinc oxide therapy was started, and she was closely monitored throughout her pregnancy. She delivered a healthy female infant weighing 3.13 kg through a cesarean section. After delivery, the clinical course of both the mother and the baby were uneventful. We review crucial points in the treatment and the management dilemmas raised by the patient.

摘要

威尔逊病是一种铜代谢的遗传性疾病,会导致铜的毒性蓄积,主要在肝脏和大脑中。尽管文献表明经过适当治疗后会有成功的结果,但患有威尔逊病的孕妇仍需要密切监测和管理。在此,我们报告一例患有威尔逊病的韩国女性成功怀孕的病例。一名33岁患有威尔逊病的初产妇到我们的产前诊所就诊。她出于自己的意愿,在两年前就停止了用药。开始口服氧化锌治疗,并在整个孕期对她进行密切监测。她通过剖宫产分娩了一名体重3.13千克的健康女婴。产后,母亲和婴儿的临床过程均顺利。我们回顾了治疗中的关键点以及患者引发的管理难题。

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1
Successful pregnancy outcome in a Korean patient with symptomatic Wilson's disease.一名有症状的韩国威尔逊病患者成功妊娠结局。
Obstet Gynecol Sci. 2015 Sep;58(5):409-13. doi: 10.5468/ogs.2015.58.5.409. Epub 2015 Sep 22.
2
Perioperative anesthetic management for cesarean delivery of severe Wilson's disease with liver failure: a case report.重度威尔逊病合并肝功能衰竭剖宫产术的围手术期麻醉管理:一例报告
JA Clin Rep. 2019 Nov 13;5(1):75. doi: 10.1186/s40981-019-0294-2.
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Practical recommendations and new therapies for Wilson's disease.威尔逊氏病的实用建议和新疗法
Drugs. 1995 Aug;50(2):240-9. doi: 10.2165/00003495-199550020-00004.
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Fulminant hepatic failure during perinatal period in a pregnant woman with Wilson's disease.一名患有威尔逊氏病的孕妇在围产期发生暴发性肝衰竭。
Gastroenterol Jpn. 1991 Feb;26(1):69-73. doi: 10.1007/BF02779512.
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Anemia following zinc treatment for Wilson's disease: a case report and literature review.Wilson 病锌治疗后贫血:病例报告及文献复习。
BMC Gastroenterol. 2019 Jul 9;19(1):120. doi: 10.1186/s12876-019-1038-5.
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Wilson's disease: a new gene and an animal model for an old disease.威尔逊氏病:一种古老疾病的新基因与动物模型
J Investig Med. 1995 Aug;43(4):323-36.
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Wilson's disease: current status.威尔逊氏病:现状
Am J Med. 1992 Jun;92(6):643-54. doi: 10.1016/0002-9343(92)90783-8.
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Pregnancy and penicillamine treatment in a patient with Wilson's disease.一名威尔逊病患者的妊娠与青霉胺治疗
Jpn J Med. 1986 Feb;25(1):59-62. doi: 10.2169/internalmedicine1962.25.59.
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Treatment of Wilson's disease with zinc: XV long-term follow-up studies.锌治疗肝豆状核变性:十五项长期随访研究
J Lab Clin Med. 1998 Oct;132(4):264-78. doi: 10.1016/s0022-2143(98)90039-7.
10
[The onset of psychiatric disorders and Wilson's disease].[精神疾病与威尔逊氏病的发病]
Encephale. 2007 Dec;33(6):924-32. doi: 10.1016/j.encep.2006.08.009. Epub 2007 Sep 5.

引用本文的文献

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Outcomes of pregnancy in Wilson's disease: a population-based study from multiple centres of the Han population in China.肝豆状核变性患者的妊娠结局:一项基于中国汉族人群多中心的研究
Front Med (Lausanne). 2024 Aug 23;11:1436828. doi: 10.3389/fmed.2024.1436828. eCollection 2024.
2
The Maternal and Fetal Outcomes of Pregnancy in Wilson's Disease: A Systematic Literature Review and Meta-Analysis.威尔逊病患者妊娠的母婴结局:系统文献综述与荟萃分析
Biomedicines. 2022 Aug 24;10(9):2072. doi: 10.3390/biomedicines10092072.
3
Wilson's Disease Diagnosed Postnatally Due to Neurological Manifestation.因神经系统表现于出生后诊断为威尔逊病。
J Obstet Gynaecol India. 2020 Jun;70(3):230-233. doi: 10.1007/s13224-019-01270-y. Epub 2019 Sep 10.
4
Perioperative anesthetic management for cesarean delivery of severe Wilson's disease with liver failure: a case report.重度威尔逊病合并肝功能衰竭剖宫产术的围手术期麻醉管理:一例报告
JA Clin Rep. 2019 Nov 13;5(1):75. doi: 10.1186/s40981-019-0294-2.
5
The study of Wilson disease in pregnancy management.妊娠管理中肝豆状核变性的研究。
BMC Pregnancy Childbirth. 2019 Dec 26;19(1):522. doi: 10.1186/s12884-019-2641-8.
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Pregnancy and Wilson disease: management and outcome of mother and newborns-experiences of a perinatal centre.妊娠与威尔逊病:围产期中心母婴的管理与结局经验
Ann Transl Med. 2019 Apr;7(Suppl 2):S56. doi: 10.21037/atm.2019.04.40.

本文引用的文献

1
Wilson's disease in pregnancy: case series and review of literature.妊娠期威尔逊病:病例系列及文献综述
BMC Res Notes. 2013 Oct 18;6:421. doi: 10.1186/1756-0500-6-421.
2
A Case of Wilson's Disease in Patient with Mildly Elevated Liver Enzymes.1例肝酶轻度升高患者的威尔逊病病例
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Placenta abruption in a woman with Wilson's disease: a case report.患有威尔逊病的女性发生胎盘早剥:一例报告。
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Clinical features of hemolysis, elevated liver enzymes, and low platelet count syndrome in undiagnosed Wilson disease: report of two cases.未诊断的 Wilson 病中溶血、肝酶升高和血小板减少综合征的临床特征:两例报告。
Arch Gynecol Obstet. 2010 Jan;281(1):129-34. doi: 10.1007/s00404-009-1080-6. Epub 2009 Apr 19.
6
Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system.基于扩增阻滞突变系统的SYBR Green嵌入剂法,通过筛查新生儿滤纸中ATP7B主要突变来估算韩国人群中威尔逊氏病的发病率和携带者频率。
Genet Test. 2008 Sep;12(3):395-9. doi: 10.1089/gte.2008.0016.
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Infant with severe penicillamine embryopathy born to a woman with Wilson disease.
Am J Med Genet A. 2004 Jul 30;128A(3):294-8. doi: 10.1002/ajmg.a.10871.
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Successful pregnancies and abortions in symptomatic and asymptomatic Wilson's disease.有症状和无症状威尔逊病患者的成功妊娠与流产情况
J Neurol Sci. 2004 Jan 15;217(1):37-40. doi: 10.1016/j.jns.2003.08.007.
9
Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.韩国威尔逊病患者人类ATP7B基因新突变及三种最常见突变的鉴定
Genet Med. 2002 Nov-Dec;4(6 Suppl):43S-48S. doi: 10.1097/00125817-200211001-00009.
10
Wilson's disease in pregnancy: five successful consecutive pregnancies of the same woman.妊娠合并威尔逊病:同一女性连续五次成功妊娠
Eur J Obstet Gynecol Reprod Biol. 2001 Jun;96(2):232-4. doi: 10.1016/s0301-2115(00)00456-5.