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

Research output: Contribution to journalArticle

2 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)6504-6509
Number of pages6
JournalWorld Journal of Gastroenterology
Volume18
Issue number44
DOIs
StatePublished - 2012

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Keywords

  • ATP8B1
  • Bile salt export pump
  • Intermittent cholestasis
  • Novel mutation
  • Progressive familial intrahepatic cholestasis type 1

ASJC Scopus subject areas

  • Gastroenterology

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