{"title":"Wilson`s disease in pregnancy: presentation of a case report.","authors":"I. Thanopoulos, K. Pappa","doi":"10.33574/hjog.2068","DOIUrl":null,"url":null,"abstract":"Wilson’s disease is a rare inherited autosomal recessive disorder of copper metabolism causing toxic hepatic and neural accumulation. The gene that regulates the disease is located on chromosome 13 (13q14.3). The signs and symptoms of Wilson’s disease vary depending on the organs that are affected by the disease with almost all the patients showing evidence of progressive liver disease. Its severity varies and is strongly associated with the time of diagnosis. In the present case report we present a rare case presenting with Wilson`s disease during pregnancy and review current management options.","PeriodicalId":194739,"journal":{"name":"Hellenic Journal of Obstetrics and Gynecology","volume":"86 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2020-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hellenic Journal of Obstetrics and Gynecology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.33574/hjog.2068","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Wilson’s disease is a rare inherited autosomal recessive disorder of copper metabolism causing toxic hepatic and neural accumulation. The gene that regulates the disease is located on chromosome 13 (13q14.3). The signs and symptoms of Wilson’s disease vary depending on the organs that are affected by the disease with almost all the patients showing evidence of progressive liver disease. Its severity varies and is strongly associated with the time of diagnosis. In the present case report we present a rare case presenting with Wilson`s disease during pregnancy and review current management options.