Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis

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	Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis
其他题名	Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis
	Deng BaoCheng 1; Lv Sa 2; Cui Wei 1; Zhao Rui 1; Lu Xu 1; Wu Jian 3; Liu Pei 1
	2012
发表期刊	WORLD JOURNAL OF GASTROENTEROLOGY
ISSN	1007-9327
卷号	18 期号:44 页码:6504-6509
摘要	Progressive familial intrahepatic cholestasis type 1 is a rare disease that is characterized by low serum gamma-glutamyltransferase levels due to mutation in ATP8B1. We present a 23-year-old male who experienced persistent marked pruritus for eighteen years and recurrent jaundice for thirteen years, in addition to cholestasis that eventually became fatal. Genetic sequencing studies of the entire coding (exon) sequences of ATP8B1 and ABCB11 uncovered a novel heterozygous missense 3035G>T mutation (S1012I) and a synonymous 696T>C mutation in ATP8B1. The patient's progression was associated with not only impaired familial intrahepatic cholestasis 1 (FIC1) function but also impaired bile salt export pump expression due to the impaired FIC1 function. Our findings show that patients with intermittent cholestasis can develop progressive liver disease even after several decades and require regular follow up. (C) 2012 Baishideng. All rights reserved.
其他摘要	Progressive familial intrahepatic cholestasis type 1 is a rare disease that is characterized by low serum γ-glutamyltransferase levels due to mutation inATP8B1.We present a 23-year-old male who experienced persistent marked pruritus for eighteen years and recurrent jaundice for thirteen years,in addition to cholestasis that eventually became fatal.Genetic sequencing studies of the entire coding(exon) sequences of ATP8B1 and ABCB11 uncovered a novel heterozygous missense 3035G>T mutation(S1012I) and a synonymous 696T>C mutation in ATP8B1.The patient’s progression was associated with not only impaired familial intrahepatic cholestasis 1(FIC1) function but also impaired bile salt export pump expression due to the impaired FIC1 function.Our findings show that patients with intermittent cholestasis can develop progressive liver disease even after several decades and require regular follow up.
关键词	FARNESOID-X-RECEPTOR HEPATOCELLULAR-CARCINOMA HEREDITARY CHOLESTASIS ABCB11 TYPE-1 PFIC2 ATP8B1 Bile salt export pump Novel mutation Progressive familial intrahepatic cholestasis type 1 Intermittent cholestasis
收录类别	CSCD
语种	英语
CSCD记录号	CSCD:4680016
引用统计
文献类型	期刊论文
条目标识符	http://ir.imr.ac.cn/handle/321006/146213
专题	中国科学院金属研究所
作者单位	1.中国科学院金属研究所 2.302 Mil Hosp China, Department Infect Dis 5, Beijing 100039, Peoples R China 3.University Calif Davis, Med Ctr, Dept Internal Med, Div Gastroenterol & Hepatol, Sacramento, CA 95817 USA
推荐引用方式 GB/T 7714	Deng BaoCheng,Lv Sa,Cui Wei,et al. Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis[J]. WORLD JOURNAL OF GASTROENTEROLOGY,2012,18(44):6504-6509.
APA	Deng BaoCheng.,Lv Sa.,Cui Wei.,Zhao Rui.,Lu Xu.,...&Liu Pei.(2012).Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.WORLD JOURNAL OF GASTROENTEROLOGY,18(44),6504-6509.
MLA	Deng BaoCheng,et al."Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis".WORLD JOURNAL OF GASTROENTEROLOGY 18.44(2012):6504-6509.