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ABCB4基因突变相关的肝硬化与全身性粉症:一个病例报告
Na Cheng1, Yu-Jie Qin1, Quan Zhang1
1Department of Infectious Diseases, Affiliated Hospital of Guizhou Medical University, Guizhou Medical University, Guiyang 550025, Guizhou Province, China.
World journal of clinical cases
|August 16, 2023
概括
鉴定了一种罕见的肝硬化病例,由ATP结合盒,亚家族B (ABCB4) 基因突变和初级光氨基粉症引起. 用ursodeoxycholic acid和daretozumab治疗显示了患者的显著改善.
科学领域:
- 肝病学 肝病学是一种肝病学.
- 遗传学 是一个遗传学.
- 腎臟病學 (nephrology) 是一種醫學專業.
背景情况:
- ATP结合盒子,亚家族B (ABCB4) 基因突变与自体相衰退性疾病有关.
- 初级光粉样性粉症是一种罕见的,无法治愈的疾病.
- 肝硬化可能是由ABCB4突变和原发光粉样性粉症的结合引起的.
