{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T09:21:42Z","timestamp":1772788902200,"version":"3.50.1"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T00:00:00Z","timestamp":1772755200000},"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. Pediatr."],"abstract":"<jats:p>\n                    Wilson disease (WD) and familial hypertriglyceridemia (FHTG) are both genetic metabolic diseases, and their comorbidity is extremely rare. This article reports a case of WD with FHTG in a 12-year-old Chinese boy. The patient was diagnosed due to elevated transaminase levels, combined with clinical manifestations, copper metabolism indexes, lipid profile analysis, and genetic testing results (pathogenic mutations of\n                    <jats:italic>ATP7B<\/jats:italic>\n                    and\n                    <jats:italic>APOA5<\/jats:italic>\n                    ). The patient was treated using a copper chelating agent to lower copper levels and fibrate drugs to lower lipid levels, which resulted in improvements in his liver function and blood lipid indices. This case serves as a source of reference for the diagnosis and treatment of other similar cases. It not only reveals the potential interaction between copper metabolism disorders and lipid abnormalities, but also highlights the importance of systematic genetic testing to identify comorbid inheritance.\n                  <\/jats:p>","DOI":"10.3389\/fped.2026.1763338","type":"journal-article","created":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T06:40:11Z","timestamp":1772779211000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Genetic testing reveals Wilson disease with familial hypertriglyceridemia in a 12-year-old boy"],"prefix":"10.3389","volume":"14","author":[{"given":"Yuemiao","family":"Wang","sequence":"first","affiliation":[{"name":"Anhui University of Traditional Chinese Medicine","place":["Hefei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daren","family":"Wu","sequence":"additional","affiliation":[{"name":"Anhui University of Traditional Chinese Medicine","place":["Hefei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dandan","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiawei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,3,6]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/j.jhep.2011.11.007","article-title":"EASL Clinical Practice Guidelines: Wilson's disease","volume":"56","year":"2012","journal-title":"J Hepatol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"2402","DOI":"10.3390\/ijms25042402","article-title":"Epidemiology of Wilson\u2019s disease and pathogenic variants of the ATP7B gene leading to diversified protein disfunctions","volume":"25","author":"Ovchinnikova","year":"2024","journal-title":"Int J Mol Sci"},{"key":"B3","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1017\/s0317167100017315","article-title":"Wilson disease in the South chinese han population","volume":"41","author":"Cheng","year":"2014","journal-title":"Can J Neurol Sci"},{"key":"B4","first-page":"6","article-title":"Genetic disorders causing hypertriglyceridemia in children and adolescents","volume-title":"Endotext [Internet]","author":"Shah","year":"2023"},{"key":"B5","first-page":"2025","article-title":"Familial hypertriglyceridemia","volume-title":"StatPearls [Internet]","author":"Daley","year":"2024"},{"key":"B6","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1111\/cge.12987","article-title":"Debunking Occam's razor: diagnosing multiple genetic diseases in families by whole-exome sequencing","volume":"92","author":"Balci","year":"2017","journal-title":"Clin Genet"},{"key":"B7","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1034\/j.1600-0676.2003.00824.x","article-title":"Diagnosis and phenotypic classification of Wilson disease","volume":"23","author":"Ferenci","year":"2003","journal-title":"Liver Int"},{"key":"B8","doi-asserted-by":"publisher","first-page":"e440","DOI":"10.3928\/19382359-20181026-01","article-title":"Wilson\u2019s disease: a review for the general 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