Progressive intrahepatic familial cholestasis type 3, an atypical cause of cirrhosis in a young patient

被引:0
作者
Giribaldi, Victoria Veloso [1 ]
Chiodi, Paula Daniela [1 ]
Lopez, Carola [2 ]
Hernandez, Nelia [1 ]
机构
[1] Univ Republica, Fac Med, Clin Gastroenterol, Montevideo, Uruguay
[2] Univ Republica, Fac Med, Ctr Hosp Pereira Rossell, Dept Gastroenterol Hepatol & Nutr Pediat, Montevideo, Uruguay
来源
ANALES DE LA FACULTAD DE MEDICINA-UNIVERSIDAD DE LA REPUBLICA URUGUAY | 2015年 / 2卷 / 01期
关键词
ABCB4; cholestasis; progressive familial intrahepatic cholestasis;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
This study describes a young female patient diagnosed with progressive familial intrahepatic cholestasis type 3, six years after her clinical debut based in histological findings and gene analysis which revealed multiple mutations in the ABCB4 gene.
引用
收藏
页码:82 / 86
页数:5
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