进行性家族性肝内胆汁淤积症3型一家系2例报告

李爱芹; 董漪; 徐志强; 王福川; 王丽旻; 闫建国; 曹丽丽; 王璞; 张敏

doi:10.3969/j.issn.1001-5256.2020.07.032

进行性家族性肝内胆汁淤积症3型一家系2例报告

DOI: 10.3969/j.issn.1001-5256.2020.07.032

中国人民解放军总医院第五医学中心青少年肝病诊疗与研究中心

基金项目:

首都临床特色应用研究(Z181100001718030)；

详细信息

中图分类号: R575
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出版历程
- 出版日期: 2020-07-20

Progressive familial intrahepatic cholestasis type 3: A report of two cases in one pedigree

Pediatric Liver Disease Treatment and Research Center,The Fifth Medical Center of Chinese PLA General Hospital

Research funding:

摘要

摘要: <正>进行性家族性肝内胆汁淤积症（progressive familial intrahepatic cholestasis,PFIC）是一组婴儿或儿童期起病,以严重肝内胆汁淤积及皮肤瘙痒为主要特征,在儿童期或者青春期可因肝衰竭而导致死亡的罕见常染色体隐性遗传性疾病。目前确切发病率尚无报道,估计为1/50 000～1/100 000[1]。PFIC共分6型,是我国儿童慢性胆汁淤积的重要原因之一。其中,1、2、4、5、6型的血清Y-GGT特征性降低或正常,而由ABCB4基因突
- 遗传性疾病,先天性 /
- 胆汁淤积,肝内 /
- 儿童
- genetic diseases,inborn /
- cholestasis,intrahepatic /
- child

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参考文献(15)

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