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 excretion. Genetic testing showed pathogenic variants in <i>ATP7B</i> 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 <i>ATP7B</i> lead to hepatic dysfunction and intestinal inflammation.
Authors
- Hiroshi Nakase (ORCID: https://orcid.org/0000-0003-2848-6586)
- Noriyuki Akutsu (ORCID: https://orcid.org/0000-0003-4673-3333)
- Tomoe Kazama
- Kohei Wagatsuma (ORCID: https://orcid.org/0000-0002-6774-7868)
- Jun Kunizaki (ORCID: https://orcid.org/0000-0002-1352-4001)
- Yuko Yoto (ORCID: https://orcid.org/0000-0002-9728-8463)
- Shintaro Sugita (ORCID: https://orcid.org/0000-0002-2750-6082)
- Takeshi Tsugawa (ORCID: https://orcid.org/0000-0001-7226-3000)
- Toju Tanaka (ORCID: https://orcid.org/0000-0002-6065-8344)
- Akira Ishii (ORCID: https://orcid.org/0000-0003-4234-2749)
- Yoshinobu Nagaoka (ORCID: https://orcid.org/0000-0002-7138-334X)
- Aki Ishikawa (ORCID: https://orcid.org/0000-0002-5753-6266)
Institutions
- Sapporo Medical University (JP)
- NTT Medical Center (JP)
- National Hospital Organization Hokkaido Medical Center (JP)
- Tohoku Medical and Pharmaceutical University Wakabayashi Hospital (JP)
Publication Details
- Journal
- Gastro Hep Advances
- Published
- 2024-09-12
- DOI
- https://doi.org/10.1016/j.gastha.2024.09.003
- Citations
- 1
- Primary Topic
- Trace Elements in Health
- Type
- article
- Field-Weighted Citation Impact
- 0.31