title: Unusual presentation of severe intrahepatic cholestasis of pregnancy leading to fetal death.
abstract: BACKGROUND
  We report an unusual presentation of intrahepatic cholestasis of pregnancy complicated by fetal death and associated with homozygous bile salt export pump polymorphism.
  
  
  METHODS
  A secundigravida presented at 31 weeks of pregnancy with discrete pruritus and highly elevated bile acid levels (223 micromol/L) suggestive of intrahepatic cholestasis of pregnancy, despite normal serum aminotransferase levels. She had a 6-year history of ulcerative colitis, and her previous pregnancy (3 years before) had been uneventful. Initial contractions and vaginal bleeding subsided spontaneously, and corticosteroids were administered for fetal lung maturation. However, in utero fetal death occurred 9 hours after normal cardiotocography. Follow-up confirmed progressive decrease of bile acid level, but the aminotransferase levels remained elevated. Molecular biology revealed a homozygous mutation for bile salt export pump protein.
  
  
  CONCLUSIONS
  This case illustrates an unusual presentation of very severe intrahepatic cholestasis of pregnancy in a homozygous patient carrying bile salt export pump mutation.
authors.affiliation: From the CHU Clermont-Ferrand, Maternal Fetal Medicine Unit, Féedération de Gynécologie-Obstétrique, Hôtel-Dieu, the Department of Hepatology, Hôtel-Dieu, and the Department of Biochemistry; and the UMR CNRS 6247 GReD, Clermont Université, Clermont-Ferrand, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Favre
authors.forename: Armand
authors.initials: A
authors.lastname: Abergel
authors.forename: Pierre
authors.initials: P
authors.lastname: Blanc
authors.forename: Vincent
authors.initials: V
authors.lastname: Sapin
authors.forename: Laurence
authors.initials: L
authors.lastname: Roszyk
authors.forename: Denis
authors.initials: D
authors.lastname: Gallot
mesh_terms: D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005313:Fetal Death / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis* / Q000235:genetics
chemical_list: C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters