title: Heap of stones: an unusual cause for biliary colic and elevated liver function tests.
abstract: A 40-year old woman presented with symptomatic intrahepatic gallstones in one liver segment only four years after cholecystectomy for cholelithiasis. Multiple small, yellow and round calculi were completely removed from the intrahepatic bile ducts via ERCP. The young age of the patient, recurrence of gallstones after cholecystectomy and intrahepatic gallstones suggested a subtype of the low-phospholipid associated cholelithiasis syndrome, a monogenic form of cholesterol cholelithiasis due to variations of the ABCB4 gene that encodes the canalicular phospholipid transporter MDR3.
authors.affiliation: University Hospital of Leipzig, Department of Internal Medicine, Neurology and Dermatology, Division of Gastroenterology and Rheumatology, Liebigstrasse 20, Leipzig, Germany. henning.wittenburg@medizin.uni-liepzig.de
authors.forename: Henning
authors.initials: H
authors.lastname: Wittenburg
authors.forename: Volker
authors.initials: V
authors.lastname: Keim
authors.forename: Albrecht
authors.initials: A
authors.lastname: Hoffmeister
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics / Q000378:metabolism; D000328:Adult; D001660:Biliary Tract Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000378:metabolism / Q000601:surgery; D002760:Cholangiopancreatography, Endoscopic Retrograde; D002763:Cholecystectomy / Q000009:adverse effects*; D002769:Cholelithiasis / Q000150:complications / Q000601:surgery*; D002784:Cholesterol / Q000378:metabolism; D003085:Colic / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000378:metabolism / Q000601:surgery; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008111:Liver Function Tests; D011237:Predictive Value of Tests; D012008:Recurrence; D016896:Treatment Outcome
chemical_list: D018435:ATP Binding Cassette Transporter, Subfamily B; D002784:Cholesterol; C095122:multidrug resistance protein 3