可变的ABCB4疾病的家族内表达
Lucia Zampaglione1,2, Anne-Laure Rougemont3,4, Laura Rubbia-Brandt3
1Division of Internal Medicine, Hôpital du Valais, Sion, Switzerland.
ACG case reports journal
|August 14, 2023
概括
与活体相关的肝脏捐赠对于进展性家族性肝脏内胆固醇症3型 (PFIC3) 是可行的. 一位患有相同ABCB4突变的父亲成功地向他的儿子捐赠了先进的PFIC3.
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
- 移植 移植 移植 移植
背景情况:
- 渐进性家族性肝内胆固醇症3型 (PFIC3) 是一种罕见的遗传性肝病.
- 它是由ABCB4基因的突变引起的,导致胆固醇症.
- PFIC3表现出可变的临床表现和不完全的透性,使治疗策略复杂化.
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