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

Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis

Jan H Elderman  1 , Pieter C J ter Borg  2 , Jan Dees  3 , Adriaan Dees  1
Affiliations
Case Reports

Pregnancy and ABCB4 gene mutation: risk of recurrent cholelithiasis

Jan H Elderman et al. BMJ Case Rep. .

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.

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Figures

Figure1
Figure1
X-ray picture during endoscopic retrograde cholangiopancreatography showing several concretions within the ductus choledochus. In the left upper quadrant the clips can be seen of previous cholecystectomy.
See this image and copyright information in PMC

References

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