二型克里格勒-纳贾尔综合征:一个病例报告和文献综述
Tao He1, Xiaoling Geng1, Lei Zhu1
1Department of Gastroenterology, The First Affiliated Hospital of Dalian Medical University, Dalian, China.
Frontiers in medicine
|May 24, 2024
概括
克里格勒-纳贾尔综合征II型是一种罕见的遗传疾病,导致严重的黄. 这项案例研究表明,通过基因测序和用巴比他治疗的管理,通过基因测序和管理成功诊断.
科学领域:
- 医学遗传学 医学遗传学
- 肝病学 肝病学是一种肝病学.
背景情况:
- 克里格勒-纳贾尔综合征 (Crigler-Najjar syndrome,CNS) 是一种罕见的遗传性疾病.
- 它源于尿素5'-二酸糖转移酶 (UGT1A1) 基因的突变,导致酶缺乏和高胆血症.
- 二型中枢神经系统患者可能对巴比他治疗有反应.
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