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

查看全文 作　　者：Bao-Cheng [1]Deng;Sa [2]Lv;Wei [1]Cui;Rui [3]Zhao;Xu [1]LU;Jian [4]Wu;Pei [1]Liu

机构地区：[1]Department of Infectious Diseases, the First Affiliated Hospital, China Medical University, Shenyang 110001, Liaoning Province, China;[2]5th Department of Infectious Disease, 302 Military Hospi- tal of China, Beijing 100039, China;[3]School of Forensic Medicine, China Medical Univer- sity, Shenyang 110001, Liaoning Province, China;[4]Department of Internal Medicine, Division of Gastro- enterology and Hepatology, University of California Davis Medi- cal Center, Sacramento, CA 95817, United States

出　　处：《World Journal of Gastroenterology》索引2012年第18卷第44期,共6页

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：家族性进行性淤积胆汁突变肝病男性成年

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

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