{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:11:55Z","timestamp":1760145115621,"version":"build-2065373602"},"reference-count":18,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T00:00:00Z","timestamp":1718582400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Wilson\u2019s disease (WD) is a biallelic disease-causing variant in the ATP7B gene on chromosome 13q14.3 that results in copper accumulation in many organs, particularly the liver and brain. The phenotypic spectrum is wide and symptoms at onset can be heterogeneous. We describe two Sicilian siblings, a young man and his elder sister, both compound heterozygous for the variants c.1286-2A&gt;G and c.2668G&gt;A (p.Val890Met) in the ATB7B gene. The male patient presented with liver cirrhosis, which quickly progressed to end-stage liver disease (Child\u2013Pugh score = C10), while his sister had moderate steatotic liver disease (SLD). Our findings highlight that SLD may not always be related to obesity in overweight patients, especially when there are other potential risk factors such as a family history of chronic liver disease, or the persistence of high transaminase despite the adoption of adequate dietary and pharmacological intervention. Screening for conditions such as WD could identify patients at risk of developing SLD and avoid delays in diagnosis. Phenotypic variability in WD is considerable; therefore, further studies are needed to identify which WD patients have a greater risk of developing SLD and determine factors that can predict the severity of the disease.<\/jats:p>","DOI":"10.3390\/cimb46060365","type":"journal-article","created":{"date-parts":[[2024,6,18]],"date-time":"2024-06-18T03:42:06Z","timestamp":1718682126000},"page":"6112-6120","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Obesity as a Confounding Factor in the Diagnosis of Wilson\u2019s Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses"],"prefix":"10.3390","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-3946-3073","authenticated-orcid":false,"given":"Emanuele","family":"Bracciam\u00e0","sequence":"first","affiliation":[{"name":"Hepatology Unit, Department of Clinical and Experimental Medicine, Policlinico \u201cG. Rodolico\u2014San Marco\u201d Hospital, University of Catania, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9433-026X","authenticated-orcid":false,"given":"Annamaria","family":"Sapuppo","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Department of Clinical and Experimental Medicine, Policlinico \u201cG. Rodolico\u2014San Marco\u201d Hospital, University of Catania, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-7534-3845","authenticated-orcid":false,"given":"Laura","family":"Rapisarda","sequence":"additional","affiliation":[{"name":"Department Biomedical and Biotechnological Sciences (BIOMETC), Section of Pharmacology, University of Catania, 95123 Catania, Italy"},{"name":"Clinical Toxicology Unit, Policlinico \u201cG. Rodolico-San Marco\u201d  Hospital, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-7084-0739","authenticated-orcid":false,"given":"Enrico","family":"Siciliano","sequence":"additional","affiliation":[{"name":"Hepatology Unit, Department of Clinical and Experimental Medicine, Policlinico \u201cG. Rodolico\u2014San Marco\u201d Hospital, University of Catania, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1413-2624","authenticated-orcid":false,"given":"Anna","family":"Caciotti","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2890-8179","authenticated-orcid":false,"given":"Amelia","family":"Morrone","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology of Neurometabolic Diseases, Neuroscience Department, Meyer Children\u2019s Hospital IRCCS, 50139 Florence, Italy"},{"name":"Department of NEUROFARBA, University of Florence, 50121 Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martino","family":"Ruggieri","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Department of Clinical and Experimental Medicine, Policlinico \u201cG. Rodolico\u2014San Marco\u201d Hospital, University of Catania, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7670-9337","authenticated-orcid":false,"given":"Giuseppina","family":"Cantarella","sequence":"additional","affiliation":[{"name":"Department Biomedical and Biotechnological Sciences (BIOMETC), Section of Pharmacology, University of Catania, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renato","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Department Biomedical and Biotechnological Sciences (BIOMETC), Section of Pharmacology, University of Catania, 95123 Catania, Italy"},{"name":"Clinical Toxicology Unit, Policlinico \u201cG. Rodolico-San Marco\u201d  Hospital, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4557-2649","authenticated-orcid":false,"given":"Gaetano","family":"Bertino","sequence":"additional","affiliation":[{"name":"Hepatology Unit, Department of Clinical and Experimental Medicine, Policlinico \u201cG. Rodolico\u2014San Marco\u201d Hospital, University of Catania, 95123 Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1002\/hep.32805","article-title":"A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases","volume":"77","author":"Schilsky","year":"2023","journal-title":"Hepatology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/s41572-018-0018-3","article-title":"Wilson disease","volume":"4","author":"Litwin","year":"2018","journal-title":"Nat. Rev. Dis. 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Metab."}],"container-title":["Current Issues in Molecular Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1467-3045\/46\/6\/365\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:59:56Z","timestamp":1760108396000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1467-3045\/46\/6\/365"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,17]]},"references-count":18,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2024,6]]}},"alternative-id":["cimb46060365"],"URL":"https:\/\/doi.org\/10.3390\/cimb46060365","relation":{},"ISSN":["1467-3045"],"issn-type":[{"type":"electronic","value":"1467-3045"}],"subject":[],"published":{"date-parts":[[2024,6,17]]}}}