Kunizaki Jun, Yoto Yuko, Nagaoka Yoshinobu, Ishii Akira, Kazama Tomoe, Wagatsuma Kohei, Akutsu Noriyuki, Ishikawa Aki, Tanaka Toju, Sugita Shintaro, Tsugawa Takeshi, Nakase Hiroshi
Department of Pediatrics, NTT EC Sapporo Medical Center, Sapporo, Japan.
Department of Pediatrics, Toya Kyokai Hospital, Toyako-cho, Abuta-gun, Japan.
Gastro Hep Adv. 2024 Sep 11;4(1):100548. doi: 10.1016/j.gastha.2024.09.003. eCollection 2025.
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 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 lead to hepatic dysfunction and intestinal inflammation.
一名患有静止期溃疡性结肠炎的11岁女孩出现肝酶持续升高。尽管她没有威尔逊病的临床症状,如凯-弗环,但实验室数据显示血清铜和铜蓝蛋白水平降低,尿铜排泄增加。基因检测显示等位基因1存在致病性变异:c.2004_2006delGAT(p.Met668del),等位基因2存在致病性变异:c.1708-5T>G。开始使用铜螯合剂后,她的肝功能恢复正常,并且维持了溃疡性结肠炎的临床和内镜缓解。(此处原文有误,根据前文推测应该是“某种基因的突变或功能缺陷”,但按照给定文本翻译)的突变或功能缺陷会导致肝功能障碍和肠道炎症。