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Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis
Alternative TitleNovel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis
Deng BaoCheng1; Lv Sa2; Cui Wei1; Zhao Rui1; Lu Xu1; Wu Jian3; Liu Pei1
2012
Source PublicationWORLD JOURNAL OF GASTROENTEROLOGY
ISSN1007-9327
Volume18Issue:44Pages:6504-6509
AbstractProgressive 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.
Other AbstractProgressive 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.
KeywordFARNESOID-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
Indexed ByCSCD
Language英语
CSCD IDCSCD:4680016
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Document Type期刊论文
Identifierhttp://ir.imr.ac.cn/handle/321006/146213
Collection中国科学院金属研究所
Affiliation1.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
Recommended Citation
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.
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