title: Successful pregnancy after ileal exclusion in progressive familial intrahepatic cholestasis type 2.
abstract: Progressive familial intrahepatic cholestasis type 2 (PFIC 2) results from mutations in ABCB11 gene coding bile salt export pump (BSEP). Medical treatment is usually unsuccessful and surgery intervention is necessary. Partial external biliary diversion (PEBD) is regarded as the first choice of surgical treatment. Ileal exclusion (IE) is an alternative operation if external stoma is not tolerated; however, a favorable outcome is uncertain. In chronic liver diseases pregnancy brings additional risk of deterioration of liver function and generally is not recommended. We present the first case report of successful pregnancy in a genetically confirmed PFIC 2 patient after surgical conversion from PEBD to IE.
authors.affiliation: The Children's Memorial Health Institute, Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Warsaw, Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Czubkowski
authors.affiliation: The Children's Memorial Health Institute, Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Warsaw, Poland.
authors.forename: Irena
authors.initials: I
authors.lastname: Jankowska
authors.affiliation: The Children's Memorial Health Institute, Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Warsaw, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Pawlowska
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 / Q000601:surgery*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007082:Ileum / Q000601:surgery*; D050498:Live Birth; D008111:Liver Function Tests; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D011247:Pregnancy
chemical_list: C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters