首页|Novel A TPSB1 mutation in an adult male with progressive familial intrahepatic cholestasis

Novel A TPSB1 mutation in an adult male with progressive familial intrahepatic cholestasis

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Progressive familial intrahepatic cholestasis type 1 is a rare disease that is characterized by low serum γ-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.

ATP8B1Bile salt export pumpNovel mutationProgressive familial intrahepatic cholestasis type 1Intermittent cholestasis

Bao-Cheng Deng、Sa Lv、Wei Cui、Rui Zhao、Xu Lu、Jian Wu、Pei Liu

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Department of Infectious Diseases, the First Affiliated Hospital, China Medical University, Shenyang 110001, Liaoning Province, China

5th Department of Infectious Disease, 302 Military Hospital of China, Beijing 100039, China

School of Forensic Medicine, China Medical University, Shenyang 110001, Liaoning Province, China

Department of Internal Medicine, Division of Gastroenterology and Hepatology, University of California Davis Medical Center, Sacramento, CA 95817, United States

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2012

10.3748/wjg.v18.i44.6504

世界胃肠病学杂志(英文版)
太原消化病研治中心

世界胃肠病学杂志(英文版)

SCI
影响因子：1.001
ISSN：1007-9327
年,卷(期)：2012.18(44)
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