渐进性家族性肝脏内胆固醇症-2 模仿非意外伤害
Saigopala Reddy1, Nathan Fleishman2, Katherine Dempsey3
1University of North Carolina School of Medicine, Chapel Hill, NC.
ACG case reports journal
|April 9, 2024
概括
渐进性家族性肝内胆固醇症2型 (PFIC-2) 可以表现为严重的出血问题和贫血,而不仅仅是肝脏问题. 这一案例凸显了PFIC-2在婴儿中的危急性,不太常见的表现.
科学领域:
- 肝病学 肝病学是一种肝病学.
- 遗传学 遗传学 是一个
- 儿科胃肠病学 儿科胃肠病学
背景情况:
- 渐进性家族性肝内胆固醇症 (PFIC) 包括胆酸分泌和运输的遗传性疾病,导致进展性肝病.
- 在5万至10万分之一的出生中,PFIC会影响1个,其中PFIC-2占病例的50%.
- PFIC-2通常表现为黄,肝,,维生素缺乏和生长失败.
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