Wilson’s Disease and Pregnancy. A Case Report

Albukerk, J

doi:10.1016/s0015-0282(16)39740-0

Cited by 12 publications

(4 citation statements)

References 11 publications

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“…DP metabolites have been found in the urine of prenatally exposed infants, verifying that it crosses the placenta in humans [Crawhall et al, 1967;Albukerk, 1973]. The actions of DP on connective tissues, including in the lungs, are believed to be mediated through the action of lysyl oxidase, a copper-requiring enzyme active in cross-linking elastin and, to a lesser extent, collagen.…”

Section: Clinical Reportmentioning

confidence: 91%

Infant with severe penicillamine embryopathy born to a woman with Wilson disease

Pinter

Hogge

McPherson

2004

American J of Med Genetics Pt A

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We report a chromosomally normal infant boy with congenital diffuse cutis laxa, severe micrognathia, contractures of all limbs, and central nervous system abnormalities including agenesis of the corpus callosum, born to a woman taking D-penicillamine (DP) for Wilson disease (WD) throughout her pregnancy. His postnatal course was remarkable for chronic lung disease, profound developmental delays, and probable cortical blindness, as well as resolution of his cutis laxa. Embryopathy is a rare complication in babies born to pregnant women treated with DP, and there have been only seven previous reports of birth defects in exposed infants (three of which had favorable postnatal outcomes). The etiology of the severe outcome in this boy is unclear, but prenatal measurement of maternal copper and zinc levels may be indicated for management.

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Section: Clinical Reportmentioning

confidence: 91%

Infant with severe penicillamine embryopathy born to a woman with Wilson disease

Pinter

Hogge

McPherson

2004

American J of Med Genetics Pt A

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“…published the case of a 24-year-old woman treated with DPA who had a successful pregnancy, highlighting no maternal or fetal adverse outcomes and even diminished neurological symptoms. During pregnancy, changes in copper metabolism such as increased serum levels of ceruloplasmin may have a protective effect on WD aggravation or symptoms in the child [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

“…A limited number of retrospective studies and case/series reports [ 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 ] have evaluated maternal and newborn outcomes in WD, and here, we aimed to analyze these studies to provide a more comprehensive overview.…”

Section: Introductionmentioning

confidence: 99%

The Maternal and Fetal Outcomes of Pregnancy in Wilson’s Disease: A Systematic Literature Review and Meta-Analysis

et al. 2022

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Wilson’s disease (WD) is a rare, treatable genetic disorder with multi-organ symptoms related mainly to copper accumulation. Most patients become aware of the disease as young adults, thus knowledge on fertility, pregnancy course and outcome is very important both for patients and physicians. The aim of this study was to perform a systematic review and meta-analysis of pregnancy outcomes in women with WD. This systematic literature review was performed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Studies were identified by searching the PubMed database (up to 12 January 2022) and by screening reference lists. We found 49 publications, including 13 retrospective studies and 36 series and case reports on pregnancy outcomes in WD patients. In total, descriptions of 449 pregnant women with 822 pregnancies were retrieved. Successful deliveries were achieved in 78.3% (644/822) of all pregnancies. Spontaneous abortions were observed in 21.7% (178/822) of pregnancies, more frequently in patients who were untreated 68.6% (96/140). Analyzing maternal outcome, 2.2% (18/822) of pregnancies were associated with the aggravation of neurological symptoms. Symptoms of hepatic deterioration were observed in 4.6% (38/822) of cases. These were usually transient and recovered after pregnancy; however, death due to liver failure was observed in 0.2% (2/822) of cases. Birth defects occurred in 4.7% (39/822) of pregnancies. The available meta-analysis showed statistically significant positive associations between anti-copper treatment and pregnancy outcome. Our results document the significance of anti-copper treatment as the main factor leading to successful pregnancy, as well as positive outcomes for women with WD.

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“…Therapy aims at a reduction of tissue copper deposits and a binding of copper to the protein metallothionein in the liver. Until specific treatments became available successful pregnancy was a rare occur rence except in patients who remained asymptomatic well into adult life [1,2]. Most of the patients treated for Wil son's disease become clinically asymptomatic and they can live a normal reproductive life.…”

Section: Introductionmentioning

confidence: 99%

Pregnancy in a Patient with Wilson’s Disease Treated with <i>D</i>-Penicillamine and Zinc Sulfate

Hartard

Kunze²

1994

Eur Neurol

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Wilson’s Disease and Pregnancy. A Case Report

Cited by 12 publications

References 11 publications

Infant with severe penicillamine embryopathy born to a woman with Wilson disease

Infant with severe penicillamine embryopathy born to a woman with Wilson disease

The Maternal and Fetal Outcomes of Pregnancy in Wilson’s Disease: A Systematic Literature Review and Meta-Analysis

Pregnancy in a Patient with Wilson’s Disease Treated with <i>D</i>-Penicillamine and Zinc Sulfate

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