Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis

Jan Elderman

Pieter ter Borg

Jan Dees

Adriaan Dees

^{Department of Medicine, Ikazia Hospital, Rotterdam, The Netherlands}

^{Department of Gastroenterology, Ikazia Hospital, Rotterdam, The Netherlands}

^{Department of Gastroenterology, Erasmus MC, Rotterdam, The Netherlands}

^{Dr Adriaan Dees,}ln.tenalp@seeDA

Accepted 2015 Jan 9.

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.

Abstract

UDCA, ursodeoxycholic acid.

Learning points

Footnotes

Contributors: JHE and AD wrote the final version of the manuscript. All authors participated in the preparation of the manuscript.

Competing interests: None.

Patient consent: Obtained.

Provenance and peer review: Not commissioned; externally peer reviewed.

Footnotes

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