Pregnancy in wilson\'s disease

Wilson’s disease is a rare autosomal recessive disorder with mutation of ATP 7B on chromosome 13q14 which leads to impaired biliary excretion and ceruloplasmin incorporation causing copper accumulation mainly in the liver and brain. This accumulation results in liver cirrhosis and nervous system manifestations such as neuropsychiatric symptoms, movement disorders and ataxia. Untreated Wilson’s disease usually causes subfertility and in cases where pregnancy does occur, it often results in spontaneous miscarriage. However, therapeutic evolution in the past decades has resulted in multiple successful pregnancy outcomes in patients with Wilson’s disease. We report such a case of successful pregnancy outcome in a women with Wilson’s disease.

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Publication Details

Journal
Southeast Asian Journal of Case Report and Review
Published
2024-10-11
DOI
https://doi.org/10.18231/j.sajcrr.2024.019
Primary Topic
Biomedical Research and Pathophysiology
Type
article
Field-Weighted Citation Impact
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article

Pregnancy in wilson\'s disease

Rachna Chaudhary, Sonali Choudhary
Southeast Asian Journal of Case Report and Review
Biomedical Research and Pathophysiology
article

Pregnancy in wilson\'s disease

Rachna Chaudhary, Sonali Choudhary
article en

Abstract

Wilson’s disease is a rare autosomal recessive disorder with mutation of ATP 7B on chromosome 13q14 which leads to impaired biliary excretion and ceruloplasmin incorporation causing copper accumulation mainly in the liver and brain. This accumulation results in liver cirrhosis and nervous system manifestations such as neuropsychiatric symptoms, movement disorders and ataxia. Untreated Wilson’s disease usually causes subfertility and in cases where pregnancy does occur, it often results in spontaneous miscarriage. However, therapeutic evolution in the past decades has resulted in multiple successful pregnancy outcomes in patients with Wilson’s disease. We report such a case of successful pregnancy outcome in a women with Wilson’s disease.

Southeast Asian Journal of Case Report and ReviewVol. 11(3)
Lala Lajpat Rai Memorial Medical College (IN)
Openalex Percentile: Top 72%
Biomedical Research and Pathophysiology
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