Ulcerative Colitis Preceding Asymptomatic Wilson’s Disease: A Case Report and Literature Review
An 11-year-old girl with quiescent ulcerative colitis had sustained elevation of liver enzymes. Although she had no clinical symptoms suggestive of Wilson’s disease, such as Kayser–Fleischer rings, laboratory data showed decreased serum copper and ceruloplasmin levels and increased urinary copper ex...
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| Language: | English |
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Elsevier
2025-01-01
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| Series: | Gastro Hep Advances |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772572324001420 |
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| author | Jun Kunizaki Yuko Yoto Yoshinobu Nagaoka Akira Ishii Tomoe Kazama Kohei Wagatsuma Noriyuki Akutsu Aki Ishikawa Toju Tanaka Shintaro Sugita Takeshi Tsugawa Hiroshi Nakase |
| author_facet | Jun Kunizaki Yuko Yoto Yoshinobu Nagaoka Akira Ishii Tomoe Kazama Kohei Wagatsuma Noriyuki Akutsu Aki Ishikawa Toju Tanaka Shintaro Sugita Takeshi Tsugawa Hiroshi Nakase |
| author_sort | Jun Kunizaki |
| collection | DOAJ |
| description | An 11-year-old girl with quiescent ulcerative colitis had sustained elevation of liver enzymes. Although she had no clinical symptoms suggestive of Wilson’s disease, such as Kayser–Fleischer rings, laboratory data showed decreased serum copper and ceruloplasmin levels and increased urinary copper excretion. Genetic testing showed pathogenic variants in ATP7B allele 1: c.2004_2006delGAT (p. Met668del) and allele 2: c.1708-5T>G. After starting copper chelators, her liver function normalized, and she maintained clinical and endoscopic remission of ulcerative colitis. Mutations or defective functions of ATP7B lead to hepatic dysfunction and intestinal inflammation. |
| format | Article |
| id | doaj-art-63cca26b7b824bf5be40097fe9954d0c |
| institution | Kabale University |
| issn | 2772-5723 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Gastro Hep Advances |
| spelling | doaj-art-63cca26b7b824bf5be40097fe9954d0c2025-01-18T05:05:35ZengElsevierGastro Hep Advances2772-57232025-01-0141100548Ulcerative Colitis Preceding Asymptomatic Wilson’s Disease: A Case Report and Literature ReviewJun Kunizaki0Yuko Yoto1Yoshinobu Nagaoka2Akira Ishii3Tomoe Kazama4Kohei Wagatsuma5Noriyuki Akutsu6Aki Ishikawa7Toju Tanaka8Shintaro Sugita9Takeshi Tsugawa10Hiroshi Nakase11Department of Pediatrics, NTT EC Sapporo Medical Center, Sapporo, Japan; Correspondence: Address correspondence to: Jun Kunizaki, MD, Department of Pediatrics, NTT EC Sapporo Medical Center, South-1, West-15, Chuo-Ku, Sapporo, Hokkaido 060-0061, Japan.Department of Pediatrics, Toya Kyokai Hospital, Toyako-cho, Abuta-gun, Japan; Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, JapanDepartment of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, JapanDepartment of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, JapanDepartment of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Sapporo, JapanDepartment of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Sapporo, JapanDepartment of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Sapporo, JapanDepartment of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, JapanDepartment of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, JapanDepartment of Surgical Pathology, Sapporo Medical University School of Medicine, Sapporo, JapanDepartment of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, JapanDepartment of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Sapporo, JapanAn 11-year-old girl with quiescent ulcerative colitis had sustained elevation of liver enzymes. Although she had no clinical symptoms suggestive of Wilson’s disease, such as Kayser–Fleischer rings, laboratory data showed decreased serum copper and ceruloplasmin levels and increased urinary copper excretion. Genetic testing showed pathogenic variants in ATP7B allele 1: c.2004_2006delGAT (p. Met668del) and allele 2: c.1708-5T>G. After starting copper chelators, her liver function normalized, and she maintained clinical and endoscopic remission of ulcerative colitis. Mutations or defective functions of ATP7B lead to hepatic dysfunction and intestinal inflammation.http://www.sciencedirect.com/science/article/pii/S2772572324001420Ulcerative ColitisWilson’s DiseaseCopper MetabolismLiver Dysfunction |
| spellingShingle | Jun Kunizaki Yuko Yoto Yoshinobu Nagaoka Akira Ishii Tomoe Kazama Kohei Wagatsuma Noriyuki Akutsu Aki Ishikawa Toju Tanaka Shintaro Sugita Takeshi Tsugawa Hiroshi Nakase Ulcerative Colitis Preceding Asymptomatic Wilson’s Disease: A Case Report and Literature Review Gastro Hep Advances Ulcerative Colitis Wilson’s Disease Copper Metabolism Liver Dysfunction |
| title | Ulcerative Colitis Preceding Asymptomatic Wilson’s Disease: A Case Report and Literature Review |
| title_full | Ulcerative Colitis Preceding Asymptomatic Wilson’s Disease: A Case Report and Literature Review |
| title_fullStr | Ulcerative Colitis Preceding Asymptomatic Wilson’s Disease: A Case Report and Literature Review |
| title_full_unstemmed | Ulcerative Colitis Preceding Asymptomatic Wilson’s Disease: A Case Report and Literature Review |
| title_short | Ulcerative Colitis Preceding Asymptomatic Wilson’s Disease: A Case Report and Literature Review |
| title_sort | ulcerative colitis preceding asymptomatic wilson s disease a case report and literature review |
| topic | Ulcerative Colitis Wilson’s Disease Copper Metabolism Liver Dysfunction |
| url | http://www.sciencedirect.com/science/article/pii/S2772572324001420 |
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