Open AccessNovelATP8B1mutation in an adult male with progressive familial intrahepatic cholestasis
Author(s) -
Baocheng Deng,
Sa Lv,
Wei Cui,
Rui Zhao,
Xiaoli Lu,
Jian Wu,
Pei Liu
Publication year - 2012
Publication title -
world journal of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.427
H-Index - 155
eISSN - 2219-2840
pISSN - 1007-9327
DOI - 10.3748/wjg.v18.i44.6504
Subject(s) - progressive familial intrahepatic cholestasis , cholestasis , missense mutation , mutation , exon , medicine , biology , genetics , endocrinology , gastroenterology , gene , transplantation , liver transplantation
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.