Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis

Jan H Elderman; Pieter C J ter Borg; Jan Dees; Adriaan Dees

doi:10.1136/bcr-2014-206919

Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis

BMJ Case Rep. 2015 Jan 22:2015:bcr2014206919. doi: 10.1136/bcr-2014-206919.

Authors

Jan H Elderman¹, Pieter C J ter Borg², Jan Dees³, Adriaan Dees¹

Affiliations

¹ Department of Medicine, Ikazia Hospital, Rotterdam, The Netherlands.
² Department of Gastroenterology, Ikazia Hospital, Rotterdam, The Netherlands.
³ Department of Gastroenterology, Erasmus MC, Rotterdam, The Netherlands.

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.

2015 BMJ Publishing Group Ltd.

Publication types

Case Reports

MeSH terms

ATP Binding Cassette Transporter, Subfamily B / deficiency*
ATP Binding Cassette Transporter, Subfamily B / genetics
Adult
Cholangitis / etiology
Cholangitis / genetics*
Cholecystectomy, Laparoscopic
Cholelithiasis / etiology
Cholelithiasis / genetics
Cholestasis, Intrahepatic / complications*
Female
Gallstones / etiology
Gallstones / genetics*
Humans
Mutation*
Phenotype
Pregnancy
Pregnancy Complications / etiology
Pregnancy Complications / genetics*

Substances

ATP Binding Cassette Transporter, Subfamily B
multidrug resistance protein 3

Supplementary concepts

Cholestasis, progressive familial intrahepatic 3