title: Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.
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.
authors.affiliation: Department of Infectious Diseases, the First Affiliated Hospital, China Medical University, Shenyang 110001, Liaoning Province, China.
authors.forename: Bao-Cheng
authors.initials: BC
authors.lastname: Deng
authors.forename: Sa
authors.initials: S
authors.lastname: Lv
authors.forename: Wei
authors.initials: W
authors.lastname: Cui
authors.forename: Rui
authors.initials: R
authors.lastname: Zhao
authors.forename: Xu
authors.initials: X
authors.lastname: Lu
authors.forename: Jian
authors.initials: J
authors.lastname: Wu
authors.forename: Pei
authors.initials: P
authors.lastname: Liu
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000378:metabolism; D001706:Biopsy; D002756:Cholagogues and Choleretics / Q000627:therapeutic use; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D016896:Treatment Outcome; D014580:Ursodeoxycholic Acid / Q000627:therapeutic use; D014815:Vitamins / Q000627:therapeutic use; D055815:Young Adult
chemical_list: D002756:Cholagogues and Choleretics; D014815:Vitamins; D014580:Ursodeoxycholic Acid; D000251:Adenosine Triphosphatases; C111067:ATP8B1 protein, human