Ulcerative Colitis Preceding Asymptomatic Wilson's Disease: A Case Report and Literature Review

被引：0

作者：

Kunizaki, Jun ^{[1
]}

Yoto, Yuko ^{[2
,3
]}

Nagaoka, Yoshinobu ^{[3
]}

Ishii, Akira ^{[3
,5
]}

Kazama, Tomoe ^{[4
]}

Wagatsuma, Kohei ^{[4
]}

Akutsu, Noriyuki ^{[4
]}

Ishikawa, Aki

Tanaka, Toju ^{[6
]}

Sugita, Shintaro ^{[7
]}

Tsugawa, Takeshi ^{[3
]}

Nakase, Hiroshi ^{[4
]}

机构：

[1] NTT EC Sapporo Med Ctr, Dept Pediat, South 1,West 15,Chuo Ku, Sapporo, Hokkaido 0600061, Japan

[2] Toya Kyokai Hosp, Dept Pediat, Toyako, Japan

[3] Sapporo Med Univ, Sch Med, Dept Pediat, Sapporo, Japan

[4] Sapporo Med Univ, Dept Gastroenterol & Hepatol, Sch Med, Sapporo, Japan

[5] Sapporo Med Univ, Sch Med, Dept Med Genet & Genom, Sapporo, Japan

[6] Natl Hosp Org Hokkaido Med Ctr, Dept Pediat, Sapporo, Japan

[7] Sapporo Med Univ, Sch Med, Dept Surg Pathol, Sapporo, Japan

来源：

GASTRO HEP ADVANCES | 2025年 / 4卷 / 01期

关键词：

Ulcerative Colitis; Wilson's Disease; Copper Metabolism; Liver Dysfunction; ASSOCIATION;

D O I：

10.1016/j.gastha.2024.09.003

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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.

引用

页数：4

共 21 条

[1] Wilson's disease
Ala, Aftab
Walker, Ann P.
Ashkan, Keyoumars
Dooley, James S.
Schilsky, Michael L.
[J]. LANCET, 2007, 369 (9559) : 397 - 408
[2] Protective role of macrophage-derived ceruloplasmin in inflammatory bowel disease
Bakhautdin, Bakytzhan
Febbraio, Maria
Goksoy, Esen
de la Motte, Carol A.
Gulen, Muhammet F.
Childers, Erin Patricia
Hazen, Stanley L.
Li, Xiaoxia
Fox, Paul L.
[J]. GUT, 2013, 62 (02) : 209 - 219
[3] Pediatric Inflammatory Bowel Disease
Bouhuys, Marleen
Lexmond, Willem S.
van Rheenen, Patrick F.
[J]. PEDIATRICS, 2023, 151 (01)
[4] Altered diversity and composition of gut microbiota in Wilson's disease
Cai, Xiangsheng
Deng, Lin
Ma, Xiaogui
Guo, Yusheng
Feng, Zhiting
Liu, Minqi
Guan, Yubin
Huang, Yanting
Deng, Jianxin
Li, Hongwei
Sang, Hong
Liu, Fang
Yang, Xiaorong
[J]. SCIENTIFIC REPORTS, 2020, 10 (01)
[5] Late-onset Wilson's disease
Ferenci, Peter
Czlonkowska, Anna
Merle, Uta
Ferenc, Szalay
Gromadzka, Grazyna
Yurdaydin, Chan
Vogel, Wolfgang
Bruha, Radan
Schmidt, Hartmut T.
Stremmel, Wolfgang
[J]. GASTROENTEROLOGY, 2007, 132 (04) : 1294 - 1298
[6] Comprehensive analysis of cuproptosis-related genes in immune infiltration and diagnosis in ulcerative colitis
Huang, Jinke
Zhang, Jiaqi
Wang, Fengyun
Zhang, Beihua
Tang, Xudong
[J]. FRONTIERS IN IMMUNOLOGY, 2022, 13
[7] Appendiceal Orifice Inflammation in an 8-Year-Old Girl with Ulcerative Colitis Complicating Wilson's Disease
Jang, Hee Jin
Jang, Joo Young
Kim, Kyung Mo
[J]. GUT AND LIVER, 2010, 4 (01) : 126 - 128
[8] Twenty-first Century Trends in the Global Epidemiology of Pediatric-Onset Inflammatory Bowel Disease: Systematic Review
Kuenzig, M. Ellen
Fung, Stephen G.
Marderfeld, Luba
Mak, Joyce W. Y.
Kaplan, Gilaad G.
Ng, Siew C.
Wilson, David C.
Cameron, Fiona
Henderson, Paul
Kotze, Paulo G.
Bhatti, Jasmine
Fang, Vixey
Gerber, Samantha
Guay, Evelyne
Jayawarden, Supun Kotteduwa
Kadota, Leo
Maldonado, Fernando D.
Osei, Jessica Amankwah
Sandarage, Ryan
Stanton, Amanda
Wan, Melissa
Benchimol, Eric, I
[J]. GASTROENTEROLOGY, 2022, 162 (04) : 1147 - +
[9] Stimulation of Liver Fibrosis by N2 Neutrophils in Wilson's Disease
Mi, Xiaoxiao
Song, Yu
Deng, Chaohua
Yan, Jian
Li, Zhihui
Li, Yingniang
Zheng, Jun
Yang, Wenjun
Gong, Ling
Shi, Junping
[J]. CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY, 2023, 16 (05): : 657 - 684
[10] Wilson's Disease and Ulcerative Colitis in the Same Patient: Just A Coincidence? A Case Report and Literature Review
Nery, Filipe G.
Marques, Irene
Magalhaes, Marina
Miranda, Helena P.
[J]. GASTROENTEROLOGY RESEARCH, 2010, 3 (06) : 287 - 289

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