Liver, Pancreas, and Biliary TractMDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis☆
Section snippets
Patients
In the present study, we studied 6 patients (2 men and 4 women, aged between 26 and 55 years) with the following peculiar features: presence of at least 1 episode of biliary colic, pancreatitis, or cholangitis; biochemical evidence of mild chronic cholestasis; recurrence of symptoms after cholecystectomy; presence of echogenic material in the intrahepatic bile ducts; and prevention of recurrence by UDCA therapy. In addition, 3 women had the above symptoms (i.e., biliary pain, cholestasis, and
Morphology and histopathology
Ultrasonography detected echogenic material suggestive of multiple small gallstones in the intrahepatic bile ducts of all the patients. An ultrasonography picture of these peripheral intrahepatic gallstones is presented in Figure 1A.
Numerous radiolucent gallstones having
Discussion
We studied 6 adults with a peculiar form of cholesterol gallstone disease associated with mutations in the MDR3 gene.
Several lines of evidence suggest that an MDR3 gene defect is involved in this form of cholesterol cholelithiasis. First, the MDR3 protein is the physiologic translocator of phospholipids in bile. Secondly, phospholipids (mainly phosphatidylcholine) are the main carrier and solvent of biliary cholesterol. Third, all the patients showed evidence of both intrahepatic and
Acknowledgements
The authors thank the technical staff of the Laboratoire Commun de Biologie Moléculaire de la Fédération de Biochimie de l'Hôpital Saint-Antoine for their assistance.
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Address requests for reprints to: Raoul Poupon, M.D., Service d'Hépatogastroentérologie, Hôpital Saint-Antoine, 184, rue du Faubourg St-Antoine, 75571 Paris Cédex 12, France. e-mail: [email protected]; fax: (33) 1-49-28-21-07.