title: Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis.
abstract: Cholelithiasis is a common problem in the Western world. Recurrent gallstones after cholecystectomy, however, are rare. We describe a case of a young woman with recurrent gallstones after a laparoscopic cholecystectomy leading to cholangitis during pregnancy. Additional testing revealed an ATP-binding cassette B4 (ABCB4) gene mutation. ABCB4 gene mutations leading to a multidrug resistance (MDR)3-P-glycoprotein deficiency are related to, among other diseases, recurrent cholelithiasis. Medical treatment consists of administering oral ursodeoxycholic acid. If untreated, MDR3 deficiency can lead to progressive liver failure requiring liver transplantation.
authors.affiliation: Department of Medicine, Ikazia Hospital, Rotterdam, The Netherlands.
authors.forename: Jan H
authors.initials: JH
authors.lastname: Elderman
authors.affiliation: Department of Gastroenterology, Ikazia Hospital, Rotterdam, The Netherlands.
authors.forename: Pieter C J
authors.initials: PC
authors.lastname: ter Borg
authors.affiliation: Department of Gastroenterology, Erasmus MC, Rotterdam, The Netherlands.
authors.forename: Jan
authors.initials: J
authors.lastname: Dees
authors.affiliation: Department of Medicine, Ikazia Hospital, Rotterdam, The Netherlands.
authors.forename: Adriaan
authors.initials: A
authors.lastname: Dees
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000172:deficiency* / Q000235:genetics; D000328:Adult; D002761:Cholangitis / Q000209:etiology / Q000235:genetics*; D017081:Cholecystectomy, Laparoscopic; D002769:Cholelithiasis / Q000209:etiology / Q000235:genetics; D002780:Cholestasis, Intrahepatic / Q000150:complications*; D005260:Female; D042882:Gallstones / Q000209:etiology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D011248:Pregnancy Complications / Q000209:etiology / Q000235:genetics*
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; C095122:multidrug resistance protein 3