{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:41:44Z","timestamp":1777524104675,"version":"3.51.4"},"reference-count":34,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,7,26]],"date-time":"2021-07-26T00:00:00Z","timestamp":1627257600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Wilson's disease (WD) is a rare condition; its diagnosis is challenging owing to a wide spectrum of <jats:italic>ATP7B<\/jats:italic> genotypes and variable clinical phenotypes, along with environmental factors. Few cases of WD with presentation of skin lesions and acute neurovisceral symptoms have been reported in the literature. To our knowledge, this is the first reported case of WD with an uncommon <jats:italic>ATP7B<\/jats:italic> gene mutation and rare symptoms of photosensitivity, sensation abnormality, and skin eruption occurring in a 19-year-old woman.<\/jats:p><jats:p><jats:bold>Case presentation:<\/jats:bold> We report the case of a 19-year-old woman with WD presenting with liver failure, skin manifestations, and acute neurovisceral symptoms.The rare mutation in intron 1 of ATP7B (c.51+2T &amp;gt; G) was further confirmed by gene sequencing. The patients' symptoms improved after administration of penicillamine and zinc therapy combined with plasma exchange. She received long-term penicillamine treatment, and her liver function was within the normal range at 1 year after discharge. However, she underwent liver transplantation at 1.5 years after discharge.<\/jats:p><jats:p><jats:bold>Conclusions:<\/jats:bold> We present a case of WD with a novel <jats:italic>ATP7B<\/jats:italic> gene mutation that may serve as a reference to generalists and specialists in hepatology or neurology of the rare clinical characteristics of WD, to prevent misdiagnosis and aid in the early diagnosis and treatment of the condition.<\/jats:p>","DOI":"10.3389\/fmed.2021.702312","type":"journal-article","created":{"date-parts":[[2021,7,26]],"date-time":"2021-07-26T06:27:15Z","timestamp":1627280835000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Liver Failure of Wilson's Disease With Manifestations Similar to Porphyria and Uncommon ATP7B Gene Mutation: A Case Report and Literature Review"],"prefix":"10.3389","volume":"8","author":[{"given":"Ju","family":"Zou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying-Hao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruo-Chan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,7,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1063","DOI":"10.1016\/S1357-2725(98)00073-9","article-title":"Molecules in focus ATP7B (WND) protein","volume":"30","author":"Terada","year":"1998","journal-title":"Int J Biochem Cell Bio."},{"key":"B2","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/S1090-3798(99)90979-0","article-title":"Menkes disease and Wilson disease: two sides of the same copper coin Part II: Wilson disease","volume":"3","author":"Menkes","year":"1999","journal-title":"Eur J Paediatr."},{"key":"B3","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1016\/S0140-6736(07)60196-2","article-title":"Wilson's disease","volume":"369","author":"Ala","year":"2007","journal-title":"Lancet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1007\/s12264-017-0107-4","article-title":"Wilson's Disease in China","volume":"33","author":"Xie","year":"2017","journal-title":"Neurosci Bull."},{"key":"B5","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1007\/s00223-019-00588-z","article-title":"Renal tubular function, bone health and body composition in Wilson's disease: a cross-sectional study from India","volume":"105","author":"Kapoor","year":"2019","journal-title":"Calcif Tissue Int."},{"key":"B6","doi-asserted-by":"publisher","first-page":"649","DOI":"10.4254\/wjh.v5.i11.649","article-title":"Diagnostic challenges of Wilson's disease presenting as acute pancreatitis, cholangitis, and jaundice","volume":"5","author":"Nussinson","year":"2013","journal-title":"World J Hepatol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"e18284","DOI":"10.1097\/MD.0000000000018284","article-title":"Relationship between genetic mutations and clinical phenotypes in patients with Wilson disease","volume":"98","author":"Zhu","year":"2019","journal-title":"Medicine."},{"key":"B8","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1002\/hep4.1297","article-title":"Acute hepatic porphyrias: review and recent progress","volume":"3","author":"Wang","year":"2019","journal-title":"Hepatol Commun."},{"key":"B9","doi-asserted-by":"publisher","first-page":"868","DOI":"10.2340\/00015555-2444","article-title":"Cutaneous porphyrias: causes, symptoms, treatments and the danish incidence 1989-2013","volume":"96","author":"Christiansen","year":"2016","journal-title":"Acta Derm Venereol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"key":"B11","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.jhep.2011.11.007","article-title":"European association for study of the liver. 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