Deng BC, Lv S, Cui W, Zhao R, Lu X, Wu J, Liu P. Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis. World J Gastroenterol 2012; 18(44): 6504-6509 [PMID: 23197899 DOI: 10.3748/wjg.v18.i44.6504]
Corresponding Author of This Article
Pei Liu, MD, PhD, Professor of Medicine, Chief, Department of Infectious Diseases, the First Affiliated Hospital, China Medical University, 155 Nanjing North Street, Shenyang 110001, Liaoning Province, China. syliupei2003@yahoo.com.cn
Article-Type of This Article
Case Report
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World J Gastroenterol. Nov 28, 2012; 18(44): 6504-6509 Published online Nov 28, 2012. doi: 10.3748/wjg.v18.i44.6504
Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis
Bao-Cheng Deng, Sa Lv, Wei Cui, Rui Zhao, Xu Lu, Jian Wu, Pei Liu
Bao-Cheng Deng, Wei Cui, Xu Lu, Pei Liu, Department of Infectious Diseases, the First Affiliated Hospital, China Medical University, Shenyang 110001, Liaoning Province, China
Sa Lv, 5th Department of Infectious Disease, 302 Military Hospital of China, Beijing 100039, China
Rui Zhao, School of Forensic Medicine, China Medical University, Shenyang 110001, Liaoning Province, China
Jian Wu, Department of Internal Medicine, Division of Gastroenterology and Hepatology, University of California Davis Medical Center, Sacramento, CA 95817, United States
Author contributions: Liu P and Wu J contributed equally to this work; Liu P and Wu J designed the research; Deng BC, Lv S, Cui W and Lu X contributed new reagents/analytic tools and collected the clinical data; Zhao R analyzed the pathological and immunostaining data; Deng BC performed the research, analyzed the mutations and wrote the paper.
Correspondence to: Pei Liu, MD, PhD, Professor of Medicine, Chief, Department of Infectious Diseases, the First Affiliated Hospital, China Medical University, 155 Nanjing North Street, Shenyang 110001, Liaoning Province, China. syliupei2003@yahoo.com.cn
Telephone: +86-24-83283091 Fax: +86-24-31535053
Received: July 14, 2012 Revised: September 26, 2012 Accepted: September 29, 2012 Published online: November 28, 2012
Abstract
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.
